Document Detail


Myoclonic seizures in Krabbe disease: a unique presentation in late-onset type.
MedLine Citation:
PMID:  16876017     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Krabbe disease is a rare, recessively inherited degenerative disorder of myelin, caused by a deficiency of the lysosomal enzyme galactocerebroside beta-galactosidase. Ninety-five percent of cases begin in early infancy, typically presenting with irritability, hypertonicity, tonic spasms, visual loss with optic atrophy, and occasionally seizures. In 5% of cases, symptoms begin late, between 15 months and 10 years, usually presenting with spastic paralyses, cerebellar ataxia, visual failure, and peripheral neuropathy. Seizures occasionally develop months to years after symptom onset. In a review of 50 such cases from the world literature, in only two did seizures signal the onset. This report describes an 18-month-old male with late-onset Krabbe disease who is the first such reported patient presenting with myoclonic seizures, an epileptic encephalopathy normally thought to reflect gray matter disease.
Authors:
Lara E Morse; N Paul Rosman
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric neurology     Volume:  35     ISSN:  0887-8994     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  2006 Aug 
Date Detail:
Created Date:  2006-07-31     Completed Date:  2006-10-20     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  154-7     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Division of Pediatric Neurology, Floating Hospital for Children, Tufts-New England Medical Center, and Boston University School of Medicine, Boston Medical Center, Massachusetts 02118-2393, USA.
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MeSH Terms
Descriptor/Qualifier:
Epilepsies, Myoclonic / diagnosis,  etiology*,  therapy
Fatal Outcome
Humans
Infant
Leukodystrophy, Globoid Cell / complications*,  diagnosis*,  therapy
Male

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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