title: A severe infantile sialidosis: clinical, biochemical, and microscopic features.
abstract: 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.
mesh_terms: 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
chemical_list: D009439:Neuraminidase