A very rare cause of acute pancreatitis: Berardinelli-Seip congenital lipodystrophy

İŞLEK A., SAYAR E., YILMAZ A., DUMAN Ö., ARTAN R.

TURKISH JOURNAL OF GASTROENTEROLOGY, cilt.25, ss.216-219, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 25
  • Basım Tarihi: 2014
  • Doi Numarası: 10.5152/tjg.2014.3667
  • Dergi Adı: TURKISH JOURNAL OF GASTROENTEROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.216-219
  • Anahtar Kelimeler: Pancreatitis, berardinelli-seip congenital lipodystrophy, childhood, GENERALIZED LIPODYSTROPHY, LEPTIN-REPLACEMENT, THERAPY
  • Akdeniz Üniversitesi Adresli: Evet

Özet

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.