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<meta name="DC.Description" content="SUMMARY: CDG-1a is an early-onset neurodegenerative disease with selective hindbrain involvement and highly variable clinical presentation. We retrospectively reviewed the clinical records and MR imaging studies of 5 children (3 boys and 2 girls aged 12 days to 2 years at presentation) with molecularly confirmed CDG-1a. The cerebellum was hypoplastic at presentation in 4 cases, progressive bulk loss involved the cerebellum and the pons in all cases, and the cerebellar cortex and subcortical white matter were hyperintense on T2-weighted and FLAIR images in all. We conclude that CDG-1a likely results from a combination of cerebellar hypoplasia and atrophy. Cerebellar volume loss with diffuse T2/FLAIR hyperintensity seems to be a peculiar association in the field of cerebellar atrophies, and may be useful to address the differential diagnosis.

BAEP
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CA
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CDG
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CH
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EEG
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ERG
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mIns
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NCV
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PMM
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PRESS
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sI
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&lt;p&gt;CDG-1a is an early-onset neurodegenerative disease with selective hindbrain involvement and highly variable clinical presentation. We retrospectively reviewed the clinical records and MR imaging studies of 5 children (3 boys and 2 girls aged 12 days to 2 years at presentation) with molecularly confirmed CDG-1a. The cerebellum was hypoplastic at presentation in 4 cases, progressive bulk loss involved the cerebellum and the pons in all cases, and the cerebellar cortex and subcortical white matter were hyperintense on T2-weighted and FLAIR images in all. We conclude that CDG-1a likely results from a combination of cerebellar hypoplasia and atrophy. Cerebellar volume loss with diffuse T2/FLAIR hyperintensity seems to be a peculiar association in the field of cerebellar atrophies, and may be useful to address the differential diagnosis.&lt;/p&gt;" />
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<meta name="twitter:title" content="The Shrunken, Bright Cerebellum: A Characteristic MRI Finding in Congenital Disorders of Glycosylation Type 1a" />
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<meta name="twitter:description" content="SUMMARY: CDG-1a is an early-onset neurodegenerative disease with selective hindbrain involvement and highly variable clinical presentation. We retrospectively reviewed the clinical records and MR imaging studies of 5 children (3 boys and 2 girls aged 12 days to 2 years at presentation) with molecularly confirmed CDG-1a. The cerebellum was hypoplastic at presentation in 4 cases, progressive bulk loss involved the cerebellum and the pons in all cases, and the cerebellar cortex and subcortical white matter were hyperintense on T2-weighted and FLAIR images in all. We conclude that CDG-1a likely results from a combination of cerebellar hypoplasia and atrophy. Cerebellar volume loss with diffuse T2/FLAIR hyperintensity seems to be a peculiar association in the field of cerebellar atrophies, and may be useful to address the differential diagnosis.

BAEP
:   brain stem auditory evoked potential
CA
:   cerebellar atrophy
CDG
:   congenital disorders of glycosylation
CH
:   cerebellar hypoplasia
EEG
:   electroencephalogram
ERG
:   electroretinogram
mIns
:   myo-inositol
NCV
:   nerve conduction velocity
PMM
:   phosphomannomutase
PRESS
:   point-resolved spectroscopy sequence
sI
:   scyllo-inositol
VEP
:   visual-evoked potentials" />
<meta name="og-title" property="og:title" content="The Shrunken, Bright Cerebellum: A Characteristic MRI Finding in Congenital Disorders of Glycosylation Type 1a" />
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<meta name="og-description" property="og:description" content="SUMMARY: CDG-1a is an early-onset neurodegenerative disease with selective hindbrain involvement and highly variable clinical presentation. We retrospectively reviewed the clinical records and MR imaging studies of 5 children (3 boys and 2 girls aged 12 days to 2 years at presentation) with molecularly confirmed CDG-1a. The cerebellum was hypoplastic at presentation in 4 cases, progressive bulk loss involved the cerebellum and the pons in all cases, and the cerebellar cortex and subcortical white matter were hyperintense on T2-weighted and FLAIR images in all. We conclude that CDG-1a likely results from a combination of cerebellar hypoplasia and atrophy. Cerebellar volume loss with diffuse T2/FLAIR hyperintensity seems to be a peculiar association in the field of cerebellar atrophies, and may be useful to address the differential diagnosis.

BAEP
:   brain stem auditory evoked potential
CA
:   cerebellar atrophy
CDG
:   congenital disorders of glycosylation
CH
:   cerebellar hypoplasia
EEG
:   electroencephalogram
ERG
:   electroretinogram
mIns
:   myo-inositol
NCV
:   nerve conduction velocity
PMM
:   phosphomannomutase
PRESS
:   point-resolved spectroscopy sequence
sI
:   scyllo-inositol
VEP
:   visual-evoked potentials" />
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    <div class="highwire-article-citation highwire-citation-type-highwire-article node12375--5" data-node-nid="12375" id="top-node-12375--61822742446" data-pisa="ajnr;33/11/2062" data-pisa-master="ajnr;ajnr.A3151" data-apath="/ajnr/33/11/2062.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">
  
  
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      <h1 class="highwire-cite-title" id="page-title">The Shrunken, Bright Cerebellum: A Characteristic MRI Finding in Congenital Disorders of Glycosylation Type 1a</h1>  
    	<div class="highwire-cite-authors"><span  class="highwire-citation-authors"><span class="highwire-citation-author first" data-delta="0">P. Feraco</span>, <span class="highwire-citation-author" data-delta="1">M. Mirabelli-Badenier</span>, <span class="highwire-citation-author" data-delta="2">M. Severino</span>, <span class="highwire-citation-author" data-delta="3">M.G. Alpigiani</span>, <span class="highwire-citation-author" data-delta="4">M. Di Rocco</span>, <span class="highwire-citation-author" data-delta="5">R. Biancheri</span> and <span class="highwire-citation-author" data-delta="6">A. Rossi</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">December 2012,  </span><span  class="highwire-cite-metadata-volume highwire-cite-metadata">33 </span><span  class="highwire-cite-metadata-issue highwire-cite-metadata">(11) </span><span  class="highwire-cite-metadata-pages highwire-cite-metadata">2062-2067; </span><span  class="highwire-cite-metadata-doi highwire-cite-metadata">DOI: https://doi.org/10.3174/ajnr.A3151 </span></div>
  
  
  
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<div id="hw-article-author-popups-top-node-12375--61822742446" style="display: none;"><div class="author-tooltip-0"><div class="author-tooltip-name">P. Feraco </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>a</span>Departments of Pediatric Neuroradiology (P.F., M.S., A.R.)</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=P.%2BFeraco%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=Feraco%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%3AP.%2BFeraco%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">M. Mirabelli-Badenier </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>b</span>Infantile Neuropsychiatry (M.M.-B., R.B.)</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=M.%2BMirabelli-Badenier%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=Mirabelli-Badenier%20M&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%3AM.%2BMirabelli-Badenier%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">M. Severino </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>a</span>Departments of Pediatric Neuroradiology (P.F., M.S., A.R.)</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=M.%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%20M&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%3AM.%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-3"><div class="author-tooltip-name">M.G. Alpigiani </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>c</span>Pediatrics (M.G.A.)</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=M.G.%2BAlpigiani%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=Alpigiani%20M&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%3AM.G.%2BAlpigiani%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">M. Di Rocco </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>d</span>Pediatrics II (M.D.R.), G. Gaslini Children's Hospital, Genova, Italy.</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=M.%2BDi%2BRocco%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=Di%20Rocco%20M&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%3AM.%2BDi%2BRocco%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">R. Biancheri </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>b</span>Infantile Neuropsychiatry (M.M.-B., R.B.)</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=R.%2BBiancheri%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=Biancheri%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%3AR.%2BBiancheri%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">A. 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<p id="p-2"><strong>SUMMARY:</strong> CDG-1a is an early-onset neurodegenerative disease with selective hindbrain involvement and highly variable clinical presentation. We retrospectively reviewed the clinical records and MR imaging studies of 5 children (3 boys and 2 girls aged 12 days to 2 years at presentation) with molecularly confirmed CDG-1a. The cerebellum was hypoplastic at presentation in 4 cases, progressive bulk loss involved the cerebellum and the pons in all cases, and the cerebellar cortex and subcortical white matter were hyperintense on T2-weighted and FLAIR images in all. We conclude that CDG-1a likely results from a combination of cerebellar hypoplasia and atrophy. Cerebellar volume loss with diffuse T2/FLAIR hyperintensity seems to be a peculiar association in the field of cerebellar atrophies, and may be useful to address the differential diagnosis.</p>
</div></div><div class="section glossary" id="glossary-1"><h2>ABBREVIATIONS:</h2>
<dl id="def-list-1"><dt id="def-item-1">BAEP<span class="def-item-dt-sep"></span></dt><dd>brain stem auditory evoked potential<span class="def-item-dd-sep"></span></dd><dt id="def-item-2">CA<span class="def-item-dt-sep"></span></dt><dd>cerebellar atrophy<span class="def-item-dd-sep"></span></dd><dt id="def-item-3">CDG<span class="def-item-dt-sep"></span></dt><dd>congenital disorders of glycosylation<span class="def-item-dd-sep"></span></dd><dt id="def-item-4">CH<span class="def-item-dt-sep"></span></dt><dd>cerebellar hypoplasia<span class="def-item-dd-sep"></span></dd><dt id="def-item-5">EEG<span class="def-item-dt-sep"></span></dt><dd>electroencephalogram<span class="def-item-dd-sep"></span></dd><dt id="def-item-6">ERG<span class="def-item-dt-sep"></span></dt><dd>electroretinogram<span class="def-item-dd-sep"></span></dd><dt id="def-item-7">mIns<span class="def-item-dt-sep"></span></dt><dd>myo-inositol<span class="def-item-dd-sep"></span></dd><dt id="def-item-8">NCV<span class="def-item-dt-sep"></span></dt><dd>nerve conduction velocity<span class="def-item-dd-sep"></span></dd><dt id="def-item-9">PMM<span class="def-item-dt-sep"></span></dt><dd>phosphomannomutase<span class="def-item-dd-sep"></span></dd><dt id="def-item-10">PRESS<span class="def-item-dt-sep"></span></dt><dd>point-resolved spectroscopy sequence<span class="def-item-dd-sep"></span></dd><dt id="def-item-11">sI<span class="def-item-dt-sep"></span></dt><dd>scyllo-inositol<span class="def-item-dd-sep"></span></dd><dt id="def-item-12">VEP<span class="def-item-dt-sep"></span></dt><dd>visual-evoked potentials</dd></dl>
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      <div class="highwire-cite-title">The Shrunken, Bright Cerebellum: A Characteristic MRI Finding in Congenital Disorders of Glycosylation Type 1a</div>  
    	<div class="highwire-cite-authors"><span  class="highwire-citation-authors"><span class="highwire-citation-author first" data-delta="0"><span class="nlm-given-names">P.</span> <span class="nlm-surname">Feraco</span></span>, <span class="highwire-citation-author" data-delta="1"><span class="nlm-given-names">M.</span> <span class="nlm-surname">Mirabelli-Badenier</span></span>, <span class="highwire-citation-author" data-delta="2"><span class="nlm-given-names">M.</span> <span class="nlm-surname">Severino</span></span>, <span class="highwire-citation-author" data-delta="3"><span class="nlm-given-names">M.G.</span> <span class="nlm-surname">Alpigiani</span></span>, <span class="highwire-citation-author" data-delta="4"><span class="nlm-given-names">M.</span> <span class="nlm-surname">Di Rocco</span></span>, <span class="highwire-citation-author" data-delta="5"><span class="nlm-given-names">R.</span> <span class="nlm-surname">Biancheri</span></span>, <span class="highwire-citation-author" data-delta="6"><span class="nlm-given-names">A.</span> <span class="nlm-surname">Rossi</span></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">Dec 2012, </span><span  class="highwire-cite-metadata-volume highwire-cite-metadata">33 </span><span  class="highwire-cite-metadata-issue highwire-cite-metadata">(11) </span><span  class="highwire-cite-metadata-pages highwire-cite-metadata">2062-2067; </span><span  class="highwire-cite-metadata-doi highwire-cite-metadata"><span class="label">DOI:</span> 10.3174/ajnr.A3151 </span></div>
  
  
  
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