Congenital generalized lipodystrophy (also, Berardinelli-Seip syndrome) is a rare, autosomal recessive syndrome characterized by the almost total absence of subcutaneous adipose tissue in children within the first year of life, resulting in a marked generalized muscular appearance, followed by severe diabetes mellitus, no ketosis/ketonuria, and insulin resistance before adolescence.
Raygada and Rennert (2005) described an affected sib pair born to consangunoeus healthy parents. One maternal first cousin had been earlier diagnosed with the condiiton. Both children were born with paucity of fat, protruding abdomen, and acromegaloid features. BOth brother and sister showed signs of precocious puberty, which developed earlier in the female patient. Intellectual disability was more prnonounced in the male sibling.
Agarwal et al. (2003) analyzed a consanguineous family from Palestine with a daughter affected with congenital generalized lipodystrophy. Genotyping showed no substantial alterations in the coding regions of the BSCL2 and AGPAT2 genes, indicating that a mutation in a yet unmapped gene resulted in the observed phenotype.