Wolman's disease with hypolipoproteinemia and acanthocytosis: Clinical and biochemical observations
1970; Elsevier BV; Volume: 77; Issue: 5 Linguagem: Inglês
10.1016/s0022-3476(70)80248-7
ISSN1097-6833
AutoresYoshikatsu Eto, Teruo Kitagawa,
Tópico(s)Peroxisome Proliferator-Activated Receptors
ResumoA 9-month-old girl is described who has the characteristic findings of Wolman's disease, accompanied by malabsorption of lipid, distinctly low levels of beta lipoprotein in the serum, and acanthocytosis in peripheral blood resembling that seen in abetalipoproteinemia. Lipid analysis of various tissues revealed excessive accumulation of triglyceride within liver cells, with involvement of spleen, central nervous tissue, and other organs. Clinical and biochemical data suggest the presence of a biochemical disorder of lipoprotein within tissue.
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