Document Detail

Infantile sialic acid storage disease associated with renal disease.
MedLine Citation:
PMID:  3072006     Owner:  NLM     Status:  MEDLINE    
A child with infantile sialic acid storage disease is reported. Ultrasonography demonstrated fetal ascites. At birth, the infant appeared hydropic and presented with numerous dysmorphic features, including sparse white hair, coarse facies, hypertelorism, epicanthal folds, anteverted nostrils, and a long philtrum. In addition, he had visceromegaly, bilateral inguinal hernias, and a slight gibbus deformity. Lymphocytes were vacuolated and bone marrow contained large numbers of foam cells. There were generalized vacuolations of both reticuloendothelial and parenchymal cells in the examined tissues. Neuropathologic studies revealed wide-spread neuronal storage, myelin loss, axonal spheroids, and gliosis. Neurons, endothelial cells, and Kupffer cells stained with wheat germ agglutinin indicated an accumulation of sialic acid. Free sialic acid was significantly increased in urine and serum, as well as in liver, heart, and brain tissues. The alpha-neuraminidase activity was normal. It is assumed that the basic defect of infantile sialic acid storage disease lies in impaired transport of sialic acid across the lysosomal membrane.
S M Pueschel; P A O'Shea; J Alroy; M W Ambler; F Dangond; P F Daniel; E H Kolodny
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Pediatric neurology     Volume:  4     ISSN:  0887-8994     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:    1988 Jul-Aug
Date Detail:
Created Date:  1989-06-06     Completed Date:  1989-06-06     Revised Date:  2006-05-23    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  207-12     Citation Subset:  IM    
Department of Pediatrics, Child Development Center, Providence, RI 02902.
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MeSH Terms
Brain / metabolism,  pathology
Kidney Diseases / complications*,  pathology
Liver / metabolism,  pathology
Metabolic Diseases / complications*,  pathology
Myocardium / metabolism,  pathology
Sialic Acids / metabolism*
Reg. No./Substance:
0/Sialic Acids

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