Congenital Generalized Lipodystrophy

Congenital Generalized Lipodystrophy

Berardinelli-Seip Syndrome

Congenital Generalized Lipodystrophy is a rare genetic disease. It is characterized by near complete absence of body fat. It is inherited as an autosomal recessive disorder. It is a disease involving the adipose tissue (fat tissue) of the body.

Parents are carriers of the genes but are not affected. There is a 25% chance of transmission of both defective genes to the affected children. The ratio of affected to unaffected children is 1:4.

Clinical features

  • The diagnosis is evident at birth or immediately afterwards. These infants look very muscular due to the absence of fat. Nearly the entire body is affected, only the palms, soles and scalp are spared.
  • These patients also have accelerated growth during their childhood and have a voracious appetite.
  • The onset of diabetes is usually during the pubertal years and requires high dose of insulin to control the blood glucose levels.
  • They have Severe insulin resistance; high serum insulin and triglyceride levels and low levels of high-density lipoprotein (HDL) cholesterol.
  • Also have acanthosis nigricans (dark velvety pigmentation of the skin) in the axilla, neck or groin.
  • Enlarged hands, feet and prominent mandible (acromegaloid features), umbilical hernia .
  • They have lytic lesions (look like bone is eaten-up on X-rays) in the long bones of the body such as the humerus, femur.
  • Females present with enlarged clitoris, increased body hair, absence of or irregular menstrual cycles and polycystic ovaries
  • A gene for CGL has been identified on the long arm of chromosome 9 (9q34).
Acquired Generalized Lipodystrophy
Familial Partial Lipodystrophy