Genes, crianças e pediatras: síndrome de Berardinelli-Seip

• Author(s): Bandeira, A. ; Cunha, S. ; Álvares, S. ; Martins, E.
• Date: 2010
• Persistent ID: http://hdl.handle.net/10400.16/667
• Origin: Repositório Científico do Centro Hospitalar do Porto
• Subject(s): Generalized lipodystrophy; Berardinelli-Seip syndrome
• Document Type: Article
• Language: Portuguese

Description

ABSTRACT A 13 years old boy presented an abnormal habitus since birth with generalized paucity of fat, muscular overdevelopment and hepatomegaly. Laboratory tests revealed increased triglycerides. Congenital generalised lipodystrophy was diagnosed.