Congenital Generalized Lipodystrophy: A Multisystemic Metabolic Disorder

Loss of fatty tissue occurring in a partial or generalized distribution is called as lipodystrophy. Generalized lipodystrophy may be congenital or acquired in nature. Congenital generalized lipodystrophy or Berardinelli-Seip syndrome is a rare autosomal recessive multisystem disorder characterized by the near absence of subcutaneous and visceral adipose tissue from birth or early infancy with severe insulin resistance. Other clinical and biological features include a specific phenotype, cutaneous changes, and an anabolic syndrome with metabolic derangements. Findings seen less commonly include xanthomas, cardiac hypertrophy, hypertension, enlargement of parotid glands, ovarian cysts and clitoromegaly in females [1]. Difficult to control brittle diabetes mellitus may present by the end of second decade. Herein we present a 6 year old child who showed all the phenotypic and metabolic features of this syndrome with early appearance of and difficult to control diabetes mellitus.