| Clinical neuroimaging features and outcome in molybdenum cofactor deficiency. | |
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MedLine Citation:
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PMID: 21907887 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Molybdenum cofactor deficiency predominantly affects the central nervous system. There are limited data on long-term outcome or brain magnetic resonance imaging (MRI) features. We examined the clinical, brain MRI, biochemical, genetic, and electroencephalographic features and outcome in 8 children with a diagnosis of molybdenum cofactor deficiency observed in our institution over 10 years. Two modes of presentation were identified: early (classical) onset with predominantly epileptic encephalopathy in 6 neonates, and late (atypical) with global developmental impairment in 2 children. Children in both groups had varying degrees of motor, language, and visual impairment. There were no deaths. Brain MRI demonstrated cerebral infarction in all but one child in the atypical group. Distinctive features were best observed on early brain MRI: acute symmetrical involvement of the globus pallidi and subthalamic regions coexisting with older cerebral hemisphere infarction, chronic lesions suggestive of a prenatal insult, pontocerebellar hypoplasia with retrocerebellar cyst, and presence of a distinctive band at the cortical/subcortical white matter. Sequential imaging revealed progressive pontine atrophy and enlargement of retrocerebellar cyst. The brain MRI of one child with atypical presentation (verbal dyspraxia, lens dislocation) showed symmetrical cerebellar deep nuclei signal abnormality without cerebral infarction. Imaging pattern on early brain MRI (<1 week) may prompt the diagnosis, potentially allowing early treatment and disease modifications. |
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Authors:
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Kayal Vijayakumar; Rox Gunny; Stephanie Grunewald; Lucinda Carr; Kling W Chong; Catherine Devile; Robert Robinson; Niamh McSweeney; Prab Prabhakar |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Pediatric neurology Volume: 45 ISSN: 1873-5150 ISO Abbreviation: Pediatr. Neurol. Publication Date: 2011 Oct |
Date Detail:
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Created Date: 2011-09-12 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8508183 Medline TA: Pediatr Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 246-52 Citation Subset: IM |
Copyright Information:
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Copyright © 2011 Elsevier Inc. All rights reserved. |
Affiliation:
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Department of Neuroscience, Great Ormond Street Hospital, London, UK. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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