نتایج جستجو برای: seip lypodystrophy

تعداد نتایج: 181  

Journal: :IOSR Journal of Dental and Medical Sciences 2013

2013
Sucharita Datta Isita Tripathy

Berardinelli–Seip Congenital Lipodystrophy( BSCL) also called Congenital Generalised Lipodystrophy (CGL) is a very rare autosomal recessive metabolic syndrome with a prevalence of less than1 case in 12 million. About 200 cases have been reported so far world-wide. BSCL2 ,the more severe form of the disease with onset in the neonatal period or early infancy is present in Lebanon, Portugal, Norwa...

Journal: :The journal of the Royal College of Physicians of Edinburgh 2013
H Wimalaratna A S D Nandasiri

Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive disorder of generalised lipoatrophy, characterised by the absence of functioning adipocytes, with lipid being stored in muscles, the liver and the pancreas. The usual presentation is in adulthood, with manifestations of insulin resistance, hypertriglyceridaemia and liver steatosis. Cirrhosis as the first presentatio...

2015
Aline Dantas Costa Riquetto Lucas Santos de Santana Lílian Araújo Caetano Antônio Marcondes Lerário Joya Emilie Menezes Correia-Deur Márcia Nery Alexander Augusto de Lima Jorge Milena Gurgel Teles

Background Congenital generalized lipodystrophies (CGL) or Berardinelli-Seip Congenital Lipodystrophy (BSCL) are rare autosomal recessive disorders with reduction of subcutaneous and visceral adipose tissue, associated with deregulation of lipidic and glycidic metabolism, most of them developing insulin resistance and diabetes mellitus during the second decade of life. There are four CGL syndro...

Journal: :The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology 2014
Ali İşlek Ersin Sayar Aygen Yılmaz Özgür Duman Reha Artan

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 hypertri...

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