Document Detail

Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum.
MedLine Citation:
PMID:  16396828     Owner:  NLM     Status:  MEDLINE    
Gaucher disease, the inherited deficiency of glucocerebrosidase, is characterized by significant genetic and phenotypic heterogeneity. At the extreme end of the phenotypic continuum is the perinatal lethal variant, typically presenting in utero or during the neonatal period as hydrops and/orcongenital ichthyosis, with severe and progressive neurological involvement. Insights from the null-allele Gaucher mouse model contributed to the identification of this distinct phenotype, which has unique epidermal involvement. While multiple mutations are encountered, many affected infants are homozygous for recombinant alleles. The diagnosis is often missed due to the early lethality and the failure to recognize the association between lysosomal disorders and hydrops fetalis. The incidence of severe perinatal Gaucher disease may prove more common than currently appreciated with greater physician awareness of the disorder.
Michael J Eblan; Ozlem Goker-Alpan; Ellen Sidransky
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Fetal and pediatric pathology     Volume:  24     ISSN:  1551-3815     ISO Abbreviation:  Fetal Pediatr Pathol     Publication Date:    2005 Jul-Oct
Date Detail:
Created Date:  2006-01-06     Completed Date:  2006-03-14     Revised Date:  2008-10-01    
Medline Journal Info:
Nlm Unique ID:  101230972     Medline TA:  Fetal Pediatr Pathol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  205-22     Citation Subset:  IM    
Section on Molecular Neurogenetics, National Institute of Mental Health and Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
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MeSH Terms
Disease Models, Animal
Gaucher Disease / genetics*,  physiopathology*
Hydrops Fetalis / etiology
Ichthyosis / etiology
Infant, Newborn

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