Precocious endothelial dysfunction in patients with congenital generalized lipodystrophy (Berardinelli-Seip syndrome) evaluated by two different methods
نویسندگان
چکیده
Virgínia Oliveira Fernandes, Ana Paula Dias Rangel Montenegro, Clarisse Mourão Melo Ponte, Lia Beatriz de Azevedo Souza Karbage, Manuela Montenegro Dias de Carvalho, Daniel Duarte Gadelha, Synara Cavalcante Lopes, Marivaldo Loyola Aragão, Ana Paula Abreu Martins Sales, Cristiane Bezerra Rocha Liberato, Ana Gardênia Liberato Ponte Farias, Catarina Brasil D’Alva, Francisco Herlânio Costa Carvalho, Izabella Tamira Galdino Farias Vasconcelos, Carla Antoniana Ferreira de Almeida Vieira, Ana Paula Germano Lopes Cavalcante, Mariella Zaiden Rezende Reis, Renan Magalhães Montenegro Junior
منابع مشابه
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 کاملPhenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.
Recently, two missense mutations (N88S, S90L) in the Berardinelli-Seip congenital lipodystrophy gene have been identified in autosomal dominant distal hereditary motor neuropathy and Silver syndrome. We report the phenotypic consequences of the N88S mutation in 90 patients of 1 large Austrian family and two unrelated German families. Variation in the clinical and electrophysiological phenotype ...
متن کاملA 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 کاملTwo unusual features in a child with Berardinelli-Seip congenital generalised lipodystrophy.
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 addition...
متن کاملSevere 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