title: A very rare cause of acute pancreatitis: Berardinelli-Seip congenital lipodystrophy.
abstract: Pancreatitis is among rare diseases in pediatrics clinics. It is usually presented with a sign of underlying systemic disease. Berardinelli-Seip congenital lipodystrophy (BSCL) is a very rare disease characterized by near absence of adipose tissue resulting in apparent muscle hypertrophy from birth or early infancy associated with severe insulin resistance. Common clinical features are hypertriglyceridemia, acanthosis nigricans, hepatomegaly with or without splenomegaly and high stature. Acromegaloid features, cardiomyopathy and mental retardation can also be present. We describe a 7-year-old Turkish boy with these clinical features of BSCL and presented with acute pancreatitis.
authors.affiliation: Department of Pediatric Gastroenterology, Akdeniz University Faculty of Medicine, Antalya, Turkey. aygen@akdeniz.edu.tr.
authors.forename: Ali
authors.initials: A
authors.lastname: İşlek
authors.forename: Ersin
authors.initials: E
authors.lastname: Sayar
authors.forename: Aygen
authors.initials: A
authors.lastname: Yılmaz
authors.forename: Özgür
authors.initials: Ö
authors.lastname: Duman
authors.forename: Reha
authors.initials: R
authors.lastname: Artan
mesh_terms: D000208:Acute Disease; D002648:Child; D006801:Humans; D052497:Lipodystrophy, Congenital Generalized / Q000150:complications*; D008297:Male; D010195:Pancreatitis / Q000209:etiology*; D035583:Rare Diseases