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<meta name="DC.Title" content="Neuroradiologic, clinic and genetic characterization of cerebellar heterotopia: a pediatric multicentric study" />
<meta name="DC.Identifier" content="10.3174/ajnr.A8450" />
<meta name="DC.Date" content="2024-10-15" />
<meta name="DC.Publisher" content="American Journal of Neuroradiology" />
<meta name="DC.Rights" content="© 2024 by American Journal of Neuroradiology" />
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<meta name="DC.Description" content="Background and purpose: Cerebellar heterotopia (CH) is a neuroradiological abnormality poorly reported and investigated in the literature. It can be observed as an isolated finding, but it has been mainly reported in the context of cerebellar dysgenesis and in syndromic conditions. The aim of this study is to provide a comprehensive neuroradiological, clinical, and genetic characterization of a cohort of pediatric patients with cerebellar heterotopia.

Materials and methods: Patients with a diagnosis of CH were systematically selected from the neuroimaging databases of the four Italian Centers participating in this retrospective study. For each patient, information regarding demographic, clinical, genetic and neuroradiological data were collected.

Results: Thirty-two pediatric patients were recruited and subdivided into two groups: patients with isolated CH and/or cerebellar malformations (n= 18) and patients with CH associated with cerebral malformations (n=14). Isolated CH consistently showed a peripheral subcortical localization in the inferior portion of cerebellar hemispheres, with either unilateral or bilateral distribution. Ten patients belonging to the second group had a diagnosis of CHARGE syndrome, and their nodules of CH were mainly but not exclusively bilateral, symmetric, located in the peripheral subcortical zone and in the inferior portion of the cerebellar hemispheres; the remaining 4 patients of the second group, showed either bilateral or unilateral CH, located in both peripheral cortex and deep white matter and in the superior and inferior portions of cerebellum. Patients with isolated CH showed high prevalence of language development delay; neurodevelopmental disorders were the most represented clinical diagnoses. Recurring features were behavioral problems and motor difficulties. A conclusive genetic diagnosis was found in 18/32 patients.

Conclusions: We found distinctive neuroradiological patterns of CH. Genetic results raise the possibility of a correlation between cerebellar morphological and functional developmental disruption, underscoring the importance of CH detection and reporting to orient the diagnostic path.

Abbreviations CH Cerebellar heterotopia; MRI Magnetic resonance imaging; CC Corpus callosum; ASD autism spectrum disorder; IVH inferior vermian hypoplasia." />
<meta name="DC.Contributor" content="Ludovica Pasca" />
<meta name="DC.Contributor" content="Filippo Arrigoni" />
<meta name="DC.Contributor" content="Romina Romaniello" />
<meta name="DC.Contributor" content="Maria Savina Severino" />
<meta name="DC.Contributor" content="Davide Politano" />
<meta name="DC.Contributor" content="Fulvio D’Abrusco" />
<meta name="DC.Contributor" content="Jessica Garau" />
<meta name="DC.Contributor" content="Valentina De Giorgis" />
<meta name="DC.Contributor" content="Adriana Carpani" />
<meta name="DC.Contributor" content="Sabrina Signorini" />
<meta name="DC.Contributor" content="Simona Orcesi" />
<meta name="DC.Contributor" content="Felice D’Arco" />
<meta name="DC.Contributor" content="Enrico Alfei" />
<meta name="DC.Contributor" content="Elisa Cattaneo" />
<meta name="DC.Contributor" content="Elisa Rognone" />
<meta name="DC.Contributor" content="Sara Uccella" />
<meta name="DC.Contributor" content="Maria Teresa Divizia" />
<meta name="DC.Contributor" content="Paolo Infantino" />
<meta name="DC.Contributor" content="Enza Maria Valente" />
<meta name="DC.Contributor" content="Renato Borgatti" />
<meta name="DC.Contributor" content="Anna Pichiecchio" />
<meta name="article:published_time" content="2024-10-15" />
<meta name="article:section" content="ORIGINAL RESEARCH" />
<meta name="citation_title" content="Neuroradiologic, clinic and genetic characterization of cerebellar heterotopia: a pediatric multicentric study" />
<meta name="citation_abstract" lang="en" content="&lt;h3&gt;ABSTRACT&lt;/h3&gt;
&lt;h3&gt;&lt;i&gt;Background and purpose:&lt;/i&gt;&lt;/h3&gt;
&lt;p&gt;Cerebellar heterotopia (CH) is a neuroradiological abnormality poorly reported and investigated in the literature. It can be observed as an isolated finding, but it has been mainly reported in the context of cerebellar dysgenesis and in syndromic conditions. The aim of this study is to provide a comprehensive neuroradiological, clinical, and genetic characterization of a cohort of pediatric patients with cerebellar heterotopia.&lt;/p&gt;&lt;h3&gt;&lt;i&gt;Materials and methods:&lt;/i&gt;&lt;/h3&gt;
&lt;p&gt;Patients with a diagnosis of CH were systematically selected from the neuroimaging databases of the four Italian Centers participating in this retrospective study. For each patient, information regarding demographic, clinical, genetic and neuroradiological data were collected.&lt;/p&gt;&lt;h3&gt;&lt;i&gt;Results:&lt;/i&gt;&lt;/h3&gt;
&lt;p&gt;Thirty-two pediatric patients were recruited and subdivided into two groups: patients with isolated CH and/or cerebellar malformations (n= 18) and patients with CH associated with cerebral malformations (n=14). Isolated CH consistently showed a peripheral subcortical localization in the inferior portion of cerebellar hemispheres, with either unilateral or bilateral distribution. Ten patients belonging to the second group had a diagnosis of CHARGE syndrome, and their nodules of CH were mainly but not exclusively bilateral, symmetric, located in the peripheral subcortical zone and in the inferior portion of the cerebellar hemispheres; the remaining 4 patients of the second group, showed either bilateral or unilateral CH, located in both peripheral cortex and deep white matter and in the superior and inferior portions of cerebellum. Patients with isolated CH showed high prevalence of language development delay; neurodevelopmental disorders were the most represented clinical diagnoses. Recurring features were behavioral problems and motor difficulties. A conclusive genetic diagnosis was found in 18/32 patients.&lt;/p&gt;&lt;h3&gt;&lt;i&gt;Conclusions:&lt;/i&gt;&lt;/h3&gt;
&lt;p&gt;We found distinctive neuroradiological patterns of CH. Genetic results raise the possibility of a correlation between cerebellar morphological and functional developmental disruption, underscoring the importance of CH detection and reporting to orient the diagnostic path.&lt;/p&gt;&lt;p&gt;Abbreviations &lt;b&gt;CH&lt;/b&gt; Cerebellar heterotopia; &lt;b&gt;MRI&lt;/b&gt; Magnetic resonance imaging; &lt;b&gt;CC&lt;/b&gt; Corpus callosum; &lt;b&gt;ASD&lt;/b&gt; autism spectrum disorder; &lt;b&gt;IVH&lt;/b&gt; inferior vermian hypoplasia.&lt;/p&gt;" />
<meta name="citation_journal_title" content="American Journal of Neuroradiology" />
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<meta name="citation_publication_date" content="2024/10/15" />
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<meta name="citation_section" content="ORIGINAL RESEARCH" />
<meta name="citation_author" content="Ludovica Pasca" />
<meta name="citation_author_institution" content="From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.)." />
<meta name="citation_author" content="Filippo Arrigoni" />
<meta name="citation_author_institution" content="From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.)." />
<meta name="citation_author" content="Romina Romaniello" />
<meta name="citation_author_institution" content="From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.)." />
<meta name="citation_author" content="Maria Savina Severino" />
<meta name="citation_author_institution" content="From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.)." />
<meta name="citation_author" content="Davide Politano" />
<meta name="citation_author_institution" content="From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.)." />
<meta name="citation_author" content="Fulvio D’Abrusco" />
<meta name="citation_author_institution" content="From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.)." />
<meta name="citation_author" content="Jessica Garau" />
<meta name="citation_author_institution" content="From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.)." />
<meta name="citation_author" content="Valentina De Giorgis" />
<meta name="citation_author_institution" content="From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.)." />
<meta name="citation_author" content="Adriana Carpani" />
<meta name="citation_author_institution" content="From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.)." />
<meta name="citation_author" content="Sabrina Signorini" />
<meta name="citation_author_institution" content="From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.)." />
<meta name="citation_author" content="Simona Orcesi" />
<meta name="citation_author_institution" content="From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.)." />
<meta name="citation_author" content="Felice D’Arco" />
<meta name="citation_author_institution" content="From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.)." />
<meta name="citation_author" content="Enrico Alfei" />
<meta name="citation_author_institution" content="From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.)." />
<meta name="citation_author" content="Elisa Cattaneo" />
<meta name="citation_author_institution" content="From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.)." />
<meta name="citation_author" content="Elisa Rognone" />
<meta name="citation_author_institution" content="From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.)." />
<meta name="citation_author" content="Sara Uccella" />
<meta name="citation_author_institution" content="From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.)." />
<meta name="citation_author" content="Maria Teresa Divizia" />
<meta name="citation_author_institution" content="From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.)." />
<meta name="citation_author" content="Paolo Infantino" />
<meta name="citation_author_institution" content="From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.)." />
<meta name="citation_author" content="Enza Maria Valente" />
<meta name="citation_author_institution" content="From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.)." />
<meta name="citation_author" content="Renato Borgatti" />
<meta name="citation_author_institution" content="From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.)." />
<meta name="citation_author" content="Anna Pichiecchio" />
<meta name="citation_author_institution" content="From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.)." />
<meta name="twitter:title" content="Neuroradiologic, clinic and genetic characterization of cerebellar heterotopia: a pediatric multicentric study" />
<meta name="twitter:card" content="summary" />
<meta name="twitter:description" content="Background and purpose: Cerebellar heterotopia (CH) is a neuroradiological abnormality poorly reported and investigated in the literature. It can be observed as an isolated finding, but it has been mainly reported in the context of cerebellar dysgenesis and in syndromic conditions. The aim of this study is to provide a comprehensive neuroradiological, clinical, and genetic characterization of a cohort of pediatric patients with cerebellar heterotopia.

Materials and methods: Patients with a diagnosis of CH were systematically selected from the neuroimaging databases of the four Italian Centers participating in this retrospective study. For each patient, information regarding demographic, clinical, genetic and neuroradiological data were collected.

Results: Thirty-two pediatric patients were recruited and subdivided into two groups: patients with isolated CH and/or cerebellar malformations (n= 18) and patients with CH associated with cerebral malformations (n=14). Isolated CH consistently showed a peripheral subcortical localization in the inferior portion of cerebellar hemispheres, with either unilateral or bilateral distribution. Ten patients belonging to the second group had a diagnosis of CHARGE syndrome, and their nodules of CH were mainly but not exclusively bilateral, symmetric, located in the peripheral subcortical zone and in the inferior portion of the cerebellar hemispheres; the remaining 4 patients of the second group, showed either bilateral or unilateral CH, located in both peripheral cortex and deep white matter and in the superior and inferior portions of cerebellum. Patients with isolated CH showed high prevalence of language development delay; neurodevelopmental disorders were the most represented clinical diagnoses. Recurring features were behavioral problems and motor difficulties. A conclusive genetic diagnosis was found in 18/32 patients.

Conclusions: We found distinctive neuroradiological patterns of CH. Genetic results raise the possibility of a correlation between cerebellar morphological and functional developmental disruption, underscoring the importance of CH detection and reporting to orient the diagnostic path.

Abbreviations CH Cerebellar heterotopia; MRI Magnetic resonance imaging; CC Corpus callosum; ASD autism spectrum disorder; IVH inferior vermian hypoplasia." />
<meta name="og-title" property="og:title" content="Neuroradiologic, clinic and genetic characterization of cerebellar heterotopia: a pediatric multicentric study" />
<meta name="og-url" property="og:url" content="http://ajnr-stage2.stage.highwire.org/content/early/2024/10/15/ajnr.A8450" />
<meta name="og-site-name" property="og:site_name" content="American Journal of Neuroradiology" />
<meta name="og-description" property="og:description" content="Background and purpose: Cerebellar heterotopia (CH) is a neuroradiological abnormality poorly reported and investigated in the literature. It can be observed as an isolated finding, but it has been mainly reported in the context of cerebellar dysgenesis and in syndromic conditions. The aim of this study is to provide a comprehensive neuroradiological, clinical, and genetic characterization of a cohort of pediatric patients with cerebellar heterotopia.

Materials and methods: Patients with a diagnosis of CH were systematically selected from the neuroimaging databases of the four Italian Centers participating in this retrospective study. For each patient, information regarding demographic, clinical, genetic and neuroradiological data were collected.

Results: Thirty-two pediatric patients were recruited and subdivided into two groups: patients with isolated CH and/or cerebellar malformations (n= 18) and patients with CH associated with cerebral malformations (n=14). Isolated CH consistently showed a peripheral subcortical localization in the inferior portion of cerebellar hemispheres, with either unilateral or bilateral distribution. Ten patients belonging to the second group had a diagnosis of CHARGE syndrome, and their nodules of CH were mainly but not exclusively bilateral, symmetric, located in the peripheral subcortical zone and in the inferior portion of the cerebellar hemispheres; the remaining 4 patients of the second group, showed either bilateral or unilateral CH, located in both peripheral cortex and deep white matter and in the superior and inferior portions of cerebellum. Patients with isolated CH showed high prevalence of language development delay; neurodevelopmental disorders were the most represented clinical diagnoses. Recurring features were behavioral problems and motor difficulties. A conclusive genetic diagnosis was found in 18/32 patients.

Conclusions: We found distinctive neuroradiological patterns of CH. Genetic results raise the possibility of a correlation between cerebellar morphological and functional developmental disruption, underscoring the importance of CH detection and reporting to orient the diagnostic path.

Abbreviations CH Cerebellar heterotopia; MRI Magnetic resonance imaging; CC Corpus callosum; ASD autism spectrum disorder; IVH inferior vermian hypoplasia." />
<meta name="og-type" property="og:type" content="article" />
<meta name="og-image" property="og:image" content="" />
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    <div class="highwire-article-citation highwire-citation-type-highwire-article node111254--5" data-node-nid="111254" id="top-node-111254--61718437413" data-pisa="ajnr;ajnr.A8450v1" data-pisa-master="ajnr;ajnr.A8450" data-apath="/ajnr/early/2024/10/15/ajnr.A8450.atom" data-hw-author-tooltip-instance="highwire_author_tooltip"><div class="highwire-cite highwire-cite-highwire-article highwire-citation-jcore-article-title-complete clearfix has-author-tooltip highwire-citation-highwire-article-top-a">
  
  
      <div class="highwire-cite-overline"><span  class="highwire-cite-metadata-article-type highwire-cite-metadata">Research Article</span><span class="separator-pipe"></span><span  class="highwire-cite-metadata-art-cat highwire-cite-metadata"><span class="wrapper">ORIGINAL RESEARCH</span></span></div>
  
      <div class="highwire-cite-access"><span class="highwire-citation-access highwire-citation-access-check" data-pisa-id="ajnr;ajnr.A8450" data-atom-uri="/ajnr/early/2024/10/15/ajnr.A8450.atom" data-request-view="full"></span></div>
  
      <h1 class="highwire-cite-title" id="page-title">Neuroradiologic, clinic and genetic characterization of cerebellar heterotopia: a pediatric multicentric study</h1>  
    	<div class="highwire-cite-authors"><span  class="highwire-citation-authors"><span class="highwire-citation-author first" data-delta="0">Ludovica Pasca</span>, <span class="highwire-citation-author" data-delta="1">Filippo Arrigoni</span>, <span class="highwire-citation-author" data-delta="2">Romina Romaniello</span>, <span class="highwire-citation-author" data-delta="3">Maria Savina Severino</span>, <span class="highwire-citation-author" data-delta="4">Davide Politano</span>, <span class="highwire-citation-author" data-delta="5">Fulvio D’Abrusco</span>, <span class="highwire-citation-author" data-delta="6">Jessica Garau</span>, <span class="highwire-citation-author" data-delta="7">Valentina De Giorgis</span>, <span class="highwire-citation-author" data-delta="8">Adriana Carpani</span>, <span class="highwire-citation-author" data-delta="9">Sabrina Signorini</span>, <span class="highwire-citation-author" data-delta="10">Simona Orcesi</span>, <span class="highwire-citation-author" data-delta="11">Felice D’Arco</span>, <span class="highwire-citation-author" data-delta="12">Enrico Alfei</span>, <span class="highwire-citation-author" data-delta="13">Elisa Cattaneo</span>, <span class="highwire-citation-author" data-delta="14">Elisa Rognone</span>, <span class="highwire-citation-author" data-delta="15">Sara Uccella</span>, <span class="highwire-citation-author" data-delta="16">Maria Teresa Divizia</span>, <span class="highwire-citation-author" data-delta="17">Paolo Infantino</span>, <span class="highwire-citation-author" data-delta="18">Enza Maria Valente</span>, <span class="highwire-citation-author" data-delta="19">Renato Borgatti</span> and <span class="highwire-citation-author" data-delta="20">Anna Pichiecchio</span></span></div>
  
    	<div class="highwire-cite-metadata"><span  class="highwire-cite-metadata-journal highwire-cite-metadata">American Journal of Neuroradiology </span><span  class="highwire-cite-metadata-date highwire-cite-metadata">October 2024,  </span><span  class="highwire-cite-metadata-pages highwire-cite-metadata">ajnr.A8450; </span><span  class="highwire-cite-metadata-doi highwire-cite-metadata">DOI: https://doi.org/10.3174/ajnr.A8450 </span></div>
  
  
  
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<div id="hw-article-author-popups-top-node-111254--61718437413" style="display: none;"><div class="author-tooltip-0"><div class="author-tooltip-name">Ludovica Pasca </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'>From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=Ludovica%2BPasca%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Pasca%20L&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link last"><a href="/search/author1%3ALudovica%2BPasca%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li></ul></div><div class="author-tooltip-1"><div class="author-tooltip-name">Filippo Arrigoni </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'>From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=Filippo%2BArrigoni%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Arrigoni%20F&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link last"><a href="/search/author1%3AFilippo%2BArrigoni%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li></ul></div><div class="author-tooltip-2"><div class="author-tooltip-name">Romina Romaniello </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'>From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=Romina%2BRomaniello%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Romaniello%20R&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link last"><a href="/search/author1%3ARomina%2BRomaniello%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li></ul></div><div class="author-tooltip-3"><div class="author-tooltip-name">Maria Savina Severino </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'>From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=Maria%2BSavina%2BSeverino%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Severino%20MS&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link last"><a href="/search/author1%3AMaria%2BSavina%2BSeverino%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li></ul></div><div class="author-tooltip-4"><div class="author-tooltip-name">Davide Politano </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'>From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=Davide%2BPolitano%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Politano%20D&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link last"><a href="/search/author1%3ADavide%2BPolitano%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li></ul></div><div class="author-tooltip-5"><div class="author-tooltip-name">Fulvio D’Abrusco </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'>From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=Fulvio%2BD%E2%80%99Abrusco%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=D%E2%80%99Abrusco%20F&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link last"><a href="/search/author1%3AFulvio%2BD%25E2%2580%2599Abrusco%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li></ul></div><div class="author-tooltip-6"><div class="author-tooltip-name">Jessica Garau </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'>From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=Jessica%2BGarau%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Garau%20J&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link last"><a href="/search/author1%3AJessica%2BGarau%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li></ul></div><div class="author-tooltip-7"><div class="author-tooltip-name">Valentina De Giorgis </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'>From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=Valentina%2BDe%2BGiorgis%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=De%20Giorgis%20V&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link last"><a href="/search/author1%3AValentina%2BDe%2BGiorgis%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li></ul></div><div class="author-tooltip-8"><div class="author-tooltip-name">Adriana Carpani </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'>From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=Adriana%2BCarpani%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Carpani%20A&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link last"><a href="/search/author1%3AAdriana%2BCarpani%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li></ul></div><div class="author-tooltip-9"><div class="author-tooltip-name">Sabrina Signorini </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'>From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=Sabrina%2BSignorini%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Signorini%20S&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link last"><a href="/search/author1%3ASabrina%2BSignorini%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li></ul></div><div class="author-tooltip-10"><div class="author-tooltip-name">Simona Orcesi </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'>From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=Simona%2BOrcesi%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Orcesi%20S&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link last"><a href="/search/author1%3ASimona%2BOrcesi%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li></ul></div><div class="author-tooltip-11"><div class="author-tooltip-name">Felice D’Arco </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'>From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=Felice%2BD%E2%80%99Arco%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=D%E2%80%99Arco%20F&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link last"><a href="/search/author1%3AFelice%2BD%25E2%2580%2599Arco%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li></ul></div><div class="author-tooltip-12"><div class="author-tooltip-name">Enrico Alfei </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'>From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=Enrico%2BAlfei%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Alfei%20E&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link last"><a href="/search/author1%3AEnrico%2BAlfei%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li></ul></div><div class="author-tooltip-13"><div class="author-tooltip-name">Elisa Cattaneo </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'>From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=Elisa%2BCattaneo%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Cattaneo%20E&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link last"><a href="/search/author1%3AElisa%2BCattaneo%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li></ul></div><div class="author-tooltip-14"><div class="author-tooltip-name">Elisa Rognone </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'>From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=Elisa%2BRognone%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Rognone%20E&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link last"><a href="/search/author1%3AElisa%2BRognone%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li></ul></div><div class="author-tooltip-15"><div class="author-tooltip-name">Sara Uccella </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'>From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=Sara%2BUccella%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Uccella%20S&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link last"><a href="/search/author1%3ASara%2BUccella%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li></ul></div><div class="author-tooltip-16"><div class="author-tooltip-name">Maria Teresa Divizia </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'>From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=Maria%2BTeresa%2BDivizia%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Divizia%20MT&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link last"><a href="/search/author1%3AMaria%2BTeresa%2BDivizia%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li></ul></div><div class="author-tooltip-17"><div class="author-tooltip-name">Paolo Infantino </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'>From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=Paolo%2BInfantino%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Infantino%20P&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link last"><a href="/search/author1%3APaolo%2BInfantino%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li></ul></div><div class="author-tooltip-18"><div class="author-tooltip-name">Enza Maria Valente </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'>From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=Enza%2BMaria%2BValente%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Valente%20EM&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link last"><a href="/search/author1%3AEnza%2BMaria%2BValente%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li></ul></div><div class="author-tooltip-19"><div class="author-tooltip-name">Renato Borgatti </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'>From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=Renato%2BBorgatti%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Borgatti%20R&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link last"><a href="/search/author1%3ARenato%2BBorgatti%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li></ul></div><div class="author-tooltip-20"><div class="author-tooltip-name">Anna Pichiecchio </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'>From the Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy (L.P., D.P., V.D.G., S.O., R.B., A.P.); Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.); Radiology and Neuroradiology Department, Children’s Hospital V. Buzzi, 20154 Milan, Italy (F.A.); Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (M.S.S.); Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy (F.D.A., E.M.V.); Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy (J.G., E.M.V.); Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom (F.D.A.); Pediatric Neurology Unite, Department of Pediatrics ‘’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.A.); Clinical Genetics Unit Department of Pediatrics ’Vittore Buzzi’’ Children’s Hospital, Milan, Italy (E.C.); Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy (E.R., A.P.); Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genoa, Italy (S.U.); Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy (S.U.); Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.T.D., P.I.); Università degli Studi di Genova, Genova, Italia (P.I.).</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=Anna%2BPichiecchio%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Pichiecchio%20A&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link last"><a href="/search/author1%3AAnna%2BPichiecchio%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li></ul></div></div></div>  </div>

  
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    <div class="highwire-markup"><div xmlns="http://www.w3.org/1999/xhtml" data-highwire-cite-ref-tooltip-instance="highwire_reflinks_tooltip" class="content-block-markup" xmlns:xhtml="http://www.w3.org/1999/xhtml"><div class="article abstract-view "><span class="highwire-journal-article-marker-start"></span><div class="section abstract" id="abstract-1"><h2 class="">ABSTRACT</h2><div id="sec-1" class="subsection"><p id="p-2"><strong><em>Background and purpose:</em></strong> Cerebellar heterotopia (CH) is a neuroradiological abnormality poorly reported and investigated in the literature. It can be observed as an isolated finding, but it has been mainly reported in the context of cerebellar dysgenesis and in syndromic conditions. The aim of this study is to provide a comprehensive neuroradiological, clinical, and genetic characterization of a cohort of pediatric patients with cerebellar heterotopia.</p></div><div id="sec-2" class="subsection"><p id="p-3"><strong><em>Materials and methods:</em></strong> Patients with a diagnosis of CH were systematically selected from the neuroimaging databases of the four Italian Centers participating in this retrospective study. For each patient, information regarding demographic, clinical, genetic and neuroradiological data were collected.</p></div><div id="sec-3" class="subsection"><p id="p-4"><strong><em>Results:</em></strong> Thirty-two pediatric patients were recruited and subdivided into two groups: patients with isolated CH and/or cerebellar malformations (n= 18) and patients with CH associated with cerebral malformations (n=14). Isolated CH consistently showed a peripheral subcortical localization in the inferior portion of cerebellar hemispheres, with either unilateral or bilateral distribution. Ten patients belonging to the second group had a diagnosis of CHARGE syndrome, and their nodules of CH were mainly but not exclusively bilateral, symmetric, located in the peripheral subcortical zone and in the inferior portion of the cerebellar hemispheres; the remaining 4 patients of the second group, showed either bilateral or unilateral CH, located in both peripheral cortex and deep white matter and in the superior and inferior portions of cerebellum. Patients with isolated CH showed high prevalence of language development delay; neurodevelopmental disorders were the most represented clinical diagnoses. Recurring features were behavioral problems and motor difficulties. A conclusive genetic diagnosis was found in 18/32 patients.</p></div><div id="sec-4" class="subsection"><p id="p-5"><strong><em>Conclusions:</em></strong> We found distinctive neuroradiological patterns of CH. Genetic results raise the possibility of a correlation between cerebellar morphological and functional developmental disruption, underscoring the importance of CH detection and reporting to orient the diagnostic path.</p><p id="p-6">Abbreviations <strong>CH</strong> Cerebellar heterotopia; <strong>MRI</strong> Magnetic resonance imaging; <strong>CC</strong> Corpus callosum; <strong>ASD</strong> autism spectrum disorder; <strong>IVH</strong> inferior vermian hypoplasia.</p></div></div><div class="section fn-group" id="fn-group-1"><h2>Footnotes</h2><ul><li class="fn-conflict" id="fn-1"><p id="p-1">The Authors declare no competing interests.</p></li></ul></div><ul class="copyright-statement"><li class="fn" id="copyright-statement-1">© 2024 by American Journal of Neuroradiology</li></ul><span class="highwire-journal-article-marker-end"></span></div><span class="related-urls"></span></div></div>  </div>

  
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    	<div class="highwire-cite-metadata"><span  class="highwire-cite-metadata-journal highwire-cite-metadata">American Journal of Neuroradiology </span><span  class="highwire-cite-metadata-date highwire-cite-metadata">Oct 2024, </span><span  class="highwire-cite-metadata-pages highwire-cite-metadata">ajnr.A8450; </span><span  class="highwire-cite-metadata-doi highwire-cite-metadata"><span class="label">DOI:</span> 10.3174/ajnr.A8450 </span></div>
  
  
  
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    	<div class="highwire-cite-metadata"><span  class="highwire-cite-metadata-journal highwire-cite-metadata">American Journal of Neuroradiology </span><span  class="highwire-cite-metadata-date highwire-cite-metadata">Oct 2024, </span><span  class="highwire-cite-metadata-pages highwire-cite-metadata">ajnr.A8450; </span><span  class="highwire-cite-metadata-doi highwire-cite-metadata"><span class="label">DOI:</span> 10.3174/ajnr.A8450 </span></div>
  
  
  
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