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Malignant Hyperlipemia in Infancy

Am J Dis Child. 1964;107(3):267-276. doi:10.1001/archpedi.1964.02080060269008.
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A previously unknown, rapidly fatal disorder of infancy characterized by markedly increased serum triglycerides, pancytopenia, hepatosplenomegaly, and neutral-fat-containing granuloma-like cell infiltrates in various organs was reported by us in a short communication in 1961.15 In the present paper a full report of our original case will be given as well as available data about an older sister, who had died in infancy a few years earlier with an almost identical clinical picture. Re-examination of the microscopic material showed the same histological picture. In addition, fat-loading tests on the healthy members of the family will be presented.

A. Clinical Picture  Case 1 (Record No. 393/59, U-a).—This boy, who was born Jan 23, 1959, was the third child of young healthy parents without any consanguinity or known familial disorders. The elder sister, born in 1955 (Case 2) had died at the age of 3½ months with a very similar clinical picture


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