Resumo

SANTANA HERNANDEZ, Elayne Esther  e  RODRIGUEZ FONT, Elena Gertrudis. Berardinelli syndrome. Rev Cubana Endocrinol [online]. 2017, vol.28, n.1, pp. 1-7. ISSN 1561-2953.

Berardinelli syndrome is a rare disease, with broad clinical and genetic heterogeneity, and clinically characterized by loss of fatty tissue at subcutaneous level and of other tissues. This generalized congenital lipodystrophy causes muscle hypertrophy associated to endocrine disorders, accelerated growth at childhood, early puberty and hyperglycemia. It is considered as a rare metabolic disease and also recessive autosomal inheritance. Nowadays, four variants of the syndrome are described in which several gens are involved. The objective of this paper was to describe the clinical characteristics of a girl whose phenotypical aspect resembles this syndrome due to the marked lipodystrophy and increased musculature since her breastfeeding phase. Therefore, it was necessary to make an assessment by a multidisciplinary team for her adequate follow-up and the genetic counselling to her family.

Palavras-chave : Berardinelly-type lipodystrophy; Seip syndrome; Lawrence syndrome; Berardinelli-Seip-Lawrence syndrome; congenital generalized lipodystrophy.

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