Berardinelli-Seip lipodystrophy.

Abstract

Berardinelli-Seip lipodystrophy (BSCL) is a rare, but widely distributed, congenital disorder of metabolism. It is characterized by insulin-resistant diabetes mellitus and marked deficiency of adipose tissue. The clinical and imaging features of the syndrome are mostly due to fat deficiency, diabetes, or to manifestations of secondary hyperinsulinemia, which results from the failure of the tissues to respond to insulin. Absence of fat may be generalized, or depending upon the subtype of the disease, may not affect areas where fat plays a mechanical function, such as the palms and soles. Muscles appear hypertrophic. In addition, characteristic, but idiopathic, peri-articular lytic lesions may be seen in some individuals. The combination of imaging, clinical, and laboratory findings is characteristic and readily recognized once the components of the syndrome are known.