Document Detail


Metachromatic leukodystrophy: a case of triplets with the late infantile variant and a systematic review of the literature.
MedLine Citation:
PMID:  20038527     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Metachromatic leukodystrophy is a rare disorder with great clinical variability. We report the first case of triplets with the late infantile form of the disease and their systematic progression of symptoms. We reviewed the literature and identified all human studies that reported new cases since 1921. We analyzed survival by decade to assess the impact of historical changes in the management of care. Mean age at death and the 5-year survival from onset of symptoms for late infantile, juvenile, and adult phenotypes were 4.2 years and 24.9%, 17.4 years and 70.3%, and 43.1 years and 88.6%, respectively. The 5-year survival of cases reported after 1990 was significantly better than cases reported before 1970 in all subtypes of metachromatic leukodystrophy (late infantile: 52% vs 14%, juvenile: 100% vs 46%, adult: 95% vs 67%). Survival in the late infantile subtype was worse than that in other subtypes. Survival significantly improved over time in all subtypes.
Authors:
Asif Mahmood; Jay Berry; David A Wenger; Maria Escolar; Magdi Sobeih; Gerald Raymond; Florian S Eichler
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Extramural; Review     Date:  2009-12-28
Journal Detail:
Title:  Journal of child neurology     Volume:  25     ISSN:  1708-8283     ISO Abbreviation:  J. Child Neurol.     Publication Date:  2010 May 
Date Detail:
Created Date:  2010-04-23     Completed Date:  2010-08-05     Revised Date:  2014-09-05    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  572-80     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adult
Age of Onset
Brain / pathology
Disease Progression
Humans
Infant
Leukodystrophy, Metachromatic* / genetics,  mortality,  pathology
Sex Factors
Triplets
Grant Support
ID/Acronym/Agency:
1K08NS52550-01A1/NS/NINDS NIH HHS; DK08795/DK/NIDDK NIH HHS; K08 NS052550/NS/NINDS NIH HHS

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