Team Seip-Berardinelli

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Seip-Berardinelli's Seip-Beradinelli Seizure (Seip-Berardinelli congenital lipodystrophy, BSCL) is a very rare genetic disease inherited in the autosomal recessive pattern characterized by triad of symptoms: lipodystrophy, hypertriglyceridaemia and hepatomegaly, as well as acromegaloid features. . In this syndrome there is tissue resistance to insulin, which results in diabetes beginning with the second decade of life. Possible complications are hypertrophic cardiomyopathy, hepatic dysfunction, muscular hypertrophy and various endocrine disorders. Three gene loci have been identified so far involved in the pathogenesis of the syndrome, and in one case, the responsible gene expression (BSCL2 encoding the sepiin protein) has been cloned.

He described Berardinelli as the first Brazilian physician in 1954, and his observations were confirmed in 1959 by Norwegian Martin Seip (1921-2001). Bibliography

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