title: Wolman's disease: clinical, biochemical and ultrastructural studies in an unusual case without striking adrenal calcification.
abstract: A case of Wolman's disease is described in a German infant who died at the age of 4 months. Hepatosplenomegaly, abdominal distention, gastrointestinal symptoms, dyserythropoietic changes in the bone marrow, but not adrenal calcification on X-ray were present. Stored lipid material could be demonstrated in liver, spleen, intestine, adrenals, thymus, kidneys, blood cells, but not in the central nervous system. Cholesterylesters and triglycerides were markedly increased in liver and spleen. Lysosomal acid lipase was found to be decreased in leucocytes and liver to less than 10% of normal, when measured with synthetic and natural substrates.
mesh_terms: D000311:Adrenal Glands / Q000000981:diagnostic imaging; D001853:Bone Marrow / Q000473:pathology; D005260:Female; D006529:Hepatomegaly / Q000175:diagnosis; D006801:Humans; D007223:Infant; D007962:Leukocytes / Q000201:enzymology; D008049:Lipase / Q000172:deficiency*; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology; D008099:Liver / Q000201:enzymology; D008247:Lysosomes / Q000201:enzymology; D011859:Radiography; D013163:Splenomegaly / Q000175:diagnosis
chemical_list: D008049:Lipase