Two unusual features in a child with Berardinelli-Seip congenital generalised lipodystrophy.

نویسندگان

  • M P Senanayake
  • I Karunaratne
چکیده

Berardinelli-Seip congenital generalised lipodystrophy (BSCGL) is an extremely rare autosomal recessive disorder characterised by congenital absence of functional adipocytes causing lipoatrophy, dyslipidemia and fat maldistribution [1]. Fat deposited in liver, heart and muscle result in stetosis-induced cirrhosis, cardiac failure, insulin resistance and diabetes mellitus. We report two additional findings of aortic stenosis, and testicular microlithiasis in a Sri Lankan boy who fulfilled the clinical and metabolic diagnostic criteria of BSCGL.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

A Rare case in Indians -- Berardinelli–Seip Congenital Lipodystrophy

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...

متن کامل

A case of Berardinelli-Seip syndrome presenting with cirrhosis.

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...

متن کامل

Berardinelli-Seip syndrome in a Chinese boy with Seipin gene mutation: a case study and literature review of genotype-phenotype

Objective Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare and heterogeneous disease of autosomal recessive inheritance characterized by the generalized absence of adipose tissue at birth and severe adverse metabolic consequences. The identified causative genes for CGL include 1-acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2), Berardinelli-Seip congenit...

متن کامل

Case Report: Berardinelli-Seip congenital generalized lipodystrophy - A case report and literature review

Congenital generalized lipodystrophy (GLD) is a rare autosomal recessive disease characterized by near absence of adipose tissue from birth or early infancy and severe insulin resistance. Since Berardinelli described a very rare case of congenital generalized lipodystrophy, nearly 120 cases have been reported in the literature. We report a case of GLD which, to the best of our knowledge, is the...

متن کامل

Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation.

Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive condition associating insulin resistance, absence of subcutaneous fat and muscular hypertrophy. Disease-causing mutations have been described in AGPAT2 and BSCL2 genes. Hypertrophic cardiomyopathy is a classical late (third decade) complication which has only been occasionally described in childhood. We report on a ...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • The Ceylon medical journal

دوره 59 3  شماره 

صفحات  -

تاریخ انتشار 2014