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RT Journal Article
SR Electronic
T1 A Case Series of X-Linked Deafness-2 with Sensorineural Hearing Loss, Stapes Fixation, and Perilymphatic Gusher: MR Imaging and Clinical Features of Hypothalamic Malformations
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 1087
OP 1093
DO 10.3174/ajnr.A6541
VO 41
IS 6
A1 Prat Matifoll, J.-A.
A1 Wilson, M.
A1 Goetti, R.
A1 Birman, C.
A1 Bennett, B.
A1 Peadon, E.
A1 Prats-Uribe, A.
A1 Prelog, K.
YR 2020
UL http://www.ajnr.org/content/41/6/1087.abstract
AB SUMMARY: X-linked deafness-2 (DFNX2) is an X-linked recessive disorder characterized by profound sensorineural hearing loss and a pathognomonic temporal bone deformity. Because hypothalamic malformations associated with DFNX2 have been rarely described, we aimed to further describe these lesions and compare them with features of a nonaffected population. All patients diagnosed with DFNX2 between 2006 and 2019 were included and compared with age-matched patients with normal MR imaging findings and without hypothalamic dysfunction. MR imaging features differing between groups were selected to help identify DFNX2. Sensitivity and specificity were calculated for these features. Agreement among 3 radiologists was quantified using the index κ. Information on the presence or absence of gelastic seizures, precocious puberty, or delayed puberty was also gathered. We selected distinctive MR imaging features of hypothalamic malformations in DFNX2. The feature selected on axial T2 images was the folded appearance of the ventromedial hypothalamus (sensitivity, 100%; specificity, 95.8%) characterized by an abnormal internal/external cleft (sensitivity, 100%; specificity, 95.7%). On coronal T2, the first distinctive feature was a concave morphology of the medial eminence (sensitivity, 100%; specificity, 97.1%), the second feature was at least 1 hypothalamic-septum angle ≥90° (sensitivity, 90%; specificity, 72.5%), and the third feature was a forebrain-hypothalamic craniocaudal length of ≥6 mm (sensitivity, 70%; specificity, 79.7%). Clinical features were also distinctive because 9 patients with DFNX2 did not present with gelastic seizures or precocious puberty. One patient had delayed puberty. The κ index and intraclass correlation coefficient ranged between 0.78 and 0.95. Imaging and clinical features of the hypothalamus suggest that there is a hypothalamic malformation associated with DFNX2. Early assessment for pubertal delay is proposed.CMAchromosomal microarrayDFNX2X-linked deafness-2ICCintraclass correlation coefficientSEsensitivitySPspecificity