Congenital generalized lipodystrophy type 2
Overview
Congenital generalized lipodystrophy type 2 is an autosomal recessive disorder characterized a pronounced generalized paucity of adipose tissue, steatosis of the liver, hypertriglyceridemia and an early onset of diabetes mellitus that is insulin resistant. This variety of congenital lipodystrophy is caused by mutations in the BSCL2 gene.
Symptoms
Patients have accelerated growth, voracious appetite, and advanced bone age during early childhood. The biochemical anomalies found in this syndrome have an abnormal response to insulin (hyperinsulinemia) action and the incapability of producing adipose tissue. Other characteristics include hepatomegaly affecting liver functions, gum hypertrophy, hypertriglyceridemia, arterial hypertension, acanthosis nigricans, hirsutism, cardiac hypertrophy, and nephropathy. Diabetes mellitus usually appears during the pubertal years. Fatty infiltration of the liver occurs early and may lead to cirrhosis and its complications. Umbilical hernia or prominence seems to be a consistent finding. Post-pubertal patients may also develop focal lytic lesions in the appendicular bones. A few patients have been reported to have hypertrophic cardiomyopathy and mental retardation.
Causes
It is caused by mutation of gene encoding seipin (BSCL2).
Treatment
1. Kidney Transplantation 2. Total Parenteral Nutrition 3. Hypophysectomy