Berardinelli-Seip congenital lipodystrophy: an autosomal recessive disorder with rare association of duodenocolonic polyps.
Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive disorder characterized by a nearly complete absence of adipose tissue and generalized muscular appearance. This condition is associated with various dermatological and systemic manifestations. We report a 5-year-old boy, with clinical and metabolic presentation resembling BSCL and unusual features, such as diabetes detected at an early age and multiple duodenal and colonic polyps.
Ritesh Kumar
RK
Agrawala
Arun Kumar
AK
Choudhury
Binoy Kumar
BK
Mohanty
Anoj Kumar
AK
Baliarsinha
D002675:Child, Preschool; D003920:Diabetes Mellitus / Q000175:diagnosis*; D006801:Humans; D006943:Hyperglycemia / Q000150:complications*; D007333:Insulin Resistance; D007417:Intestinal Polyps / Q000150:complications*; D052497:Lipodystrophy, Congenital Generalized / Q000150:complications*; D008297:Male