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.
D001921:Brain / Q000473:pathology; D006801:Humans; D007031:Hypothalamus / Q000473:pathology; D007223:Infant; D008060:Lipodystrophy / Q000151:congenital* / Q000473:pathology; D008099:Liver / Q000473:pathology; D008168:Lung / Q000473:pathology; D008297:Male; D009206:Myocardium / Q000473:pathology; D013154:Spleen / Q000473:pathology