Document Detail

Myoclonic seizures in Krabbe disease: a unique presentation in late-onset type.
MedLine Citation:
PMID:  16876017     Owner:  NLM     Status:  MEDLINE    
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.
Lara E Morse; N Paul Rosman
Related Documents :
479867 - Status epilepticus. an uncommon hysterical conversion syndrome.
7492047 - Seizures caused by ingestion of composition c-4.
6709127 - Hypomelanosis of ito. case report with involvement of the central nervous system and re...
6702787 - 'idiopathic' neonatal cerebral infarction.
24753647 - Prolonged hemoptysis caused by primary pulmonary epithelioid hemangioendothelioma; a ca...
23853407 - Lingual schwannoma: case report and review of the literature.
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    
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.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Epilepsies, Myoclonic / diagnosis,  etiology*,  therapy
Fatal Outcome
Leukodystrophy, Globoid Cell / complications*,  diagnosis*,  therapy

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

Previous Document:  Fumarate hydratase deficiency in monozygotic twins.
Next Document:  Landau-Kleffner syndrome with mitochondrial respiratory chain-complex I deficiency.