Congenital generalized lipodystrophy. Report on one case, with special reference to postmortem findings.

Generalized lipodystrophy (Berardinelli-Seip's syndrome) was diagnosied in a boy at the age of 8-1/2 months. Ten months later he died because of aspiration of food. Necropsy with special reference to the CNS revealed hypothalamic lesions, probably of a malformative or hamartomatous nature. The findings lend additional support to the view that hypothalamic dysfunction is responsible for the signs and symptoms of generalized lipodystrophy.