Synonym: Berardinelli-Seip Syndrome
Inheritance: autosomal recessive
Clinical features:
(1) The condition may be recognized at birth or during infancy.
(2) There is a generalized lack of adipose tissue.
(3) Subcutaneous veins and skeletal muscle are prominent.
(4) The umbilicus may be prominent.
(5) Hepatomegaly with hepatic steatosis/steatohepatitis.
(6) Variable splenomegaly.
(6) Hyperphagia.
(7) Accelerated linear growth with increased bone age.
(8) Acromegaloid features (enlarged hands and feet, enlarged mandible).
(9) Acanthosis nigracans.
(10) Diabetes mellitus with frequent episodes of ketosis.
Women may have evidence of polycystic ovary syndrome (hirsutism, clitoromegaly, infertility, irregular menses, hyperandrogenism)
Laboratory findings:
(1) hyperinsulinemia
(2) hypertriglyceridemia
(3) decreased leptin
Diagnosis may be delayed if the patient does not have access to medical care.
