Generalized Lipodystrophy

Abstract

In 1959, three patients with generalized lipodystrophy, increased growth rate and a number of other clinical features were described by one of us (Seip, 1959). The signs of the disease were present from birth, and two of the patients were siblings. The main clinical features of the syndrome were: generalized lipodystrophy, increased growth rate with acromegaloid pattern, large hands and feet, advanced bone age and dental development, muscular hypertrophy, increased muscular glycogen, hepatosplenomegaly (fatty infiltration and slight cirrhotic changes in the liver), cardiomegaly, corneal opacities, skin pigmentation and dry, coarse skin, hypertrichosis, phlebomegaly, and abnormal pneumoencephalogram. In two cases the parents were consanguineous.