Case Report: Berardinelli-Seip congenital generalized lipodystrophy - A case report and literature review
نویسندگان
چکیده
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 first Saudi child. The earlier case from Saudi Arabia was a Yemeni.
منابع مشابه
Berardinelli-Seip syndrome in a Chinese boy with Seipin gene mutation: a case study and literature review of genotype-phenotype
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