Document Detail

Severe type II Gaucher disease with ichthyosis, arthrogryposis and neuronal apoptosis: molecular and pathological analyses.
MedLine Citation:
PMID:  10756347     Owner:  NLM     Status:  MEDLINE    
Severe infantile Gaucher disease associated with ichthyosis and neonatal death is a rare subgroup of Type II Gaucher disease. This group of infants has little, if any, detectable beta-glucocerebrosidase activity, and prior genetic analyses have been limited in detecting the mutations responsible for this phenotype. We document an Hispanic infant succumbing with arthrogryposis and collodion membrane covering the skin who had no detectable beta-glucocerebrosidase activity in tissue samples and who was homozygous for a rare recombinant allele, RecNciI. Microscopic evaluation demonstrated accumulation of Gaucher cells in visceral organs and extensive loss of neurons in the anterior horns, brainstem, and cortex of the nervous system. The apoptosis of neuronal cells from the anterior horns and brainstem are a reasonable explanation for the arthrogryposis and neonatal death, respectively.
L S Finn; M Zhang; S H Chen; C R Scott
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  91     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  2000 Mar 
Date Detail:
Created Date:  2000-05-19     Completed Date:  2000-05-19     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  222-6     Citation Subset:  IM    
Copyright Information:
Copyright 2000 Wiley-Liss, Inc.
Department of Pathology, Children's Hospital and Medical Center, University of Washington, Seattle, Washington, USA.
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MeSH Terms
Arthrogryposis / complications,  pathology*
Brain / pathology,  ultrastructure
Fatal Outcome
Gaucher Disease / complications,  enzymology,  genetics,  pathology*
Glucosylceramidase / analysis,  genetics
Ichthyosiform Erythroderma, Congenital / complications,  pathology*
Infant, Newborn
Liver Cirrhosis / pathology
Neurons / pathology*
Spinal Cord / pathology,  ultrastructure
Reg. No./Substance:

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

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