A severe infantile sialidosis: clinical, biochemical, and microscopic features.
An infant boy is described whose clinical findings include congenital ascites, hepatosplenomegaly, postnatal growth failure, dysostosis multiplex, delayed development, pericardial effusion, and the nephrotic syndrome. Death occurred before he reached 2 years of age. Evidence indicates that these abnormalities resulted from an autosomal recessive inherited deficiency of neuraminidase.
D001201:Ascites / Q000151:congenital; D004392:Dwarfism / Q000209:etiology; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology; D007674:Kidney Diseases / Q000209:etiology; D008099:Liver / Q000473:pathology; D008297:Male; D009439:Neuraminidase / Q000172:deficiency*; D010490:Pericardial Effusion / Q000209:etiology; D012867:Skin / Q000201:enzymology; D006848:Testicular Hydrocele / Q000151:congenital
D009439:Neuraminidase