Berardinelliseip syndrome bss or berardinelliseip congenital lipoatrophy, is a rare autosomal recessive genetic disease, with only up to 200 reported cases to date. A case of berardinelliseip syndrome, a congenital generalised lipodystrophy, is. I was born in chile in early 80s and i was a normal baby until my first 2 months of life. Impairment of respiratory muscle strength in berardinelli. Este estudo qualitativo foi desenvolvido com onze interlocutores, sendo nove pessoas vivendo com a sindrome e duas maes. Kim, jocelyn magre2, gilda porta 1, nuvarte setian, durval damiani1 resumo. Barra cb, savoldelli sv, manna td, kim ca, magre j, porta g, setian n, damiani d. Berardinelliseip syndrome is very uncommon, and the present case is particularly rare because it is the only case at least as reported in the. Pdf cardiometabolic abnormalities in patients with. Exomphalosmakroglossiegigantismussyndrom, berardinelli. Berardinelliseip syndrome is an extremely rare disorder that belongs to other group of congenital generalised lipodystrophies. This lipodystrophy is associated with fatty liver, hypertriglyceridemia, hyperinsulinemia, type 2 diabetes, acanthosis nigricans, prominent musculature and other clinical conditions 2, 3, 4, 5.
Berardinelliseip congenital lipodystrophy bscl is a rare disease characterized by the almost complete absence of adipose tissue. Although cardiovascular disturbances have been observed in bscl patients, there are no studies regarding the respiratory muscle strength rms in this type of lipodystrophy. Sindrome progeroide neonatal o sindromede wiedemannrautenstrauch progeriade hutchinson gliford diabetes mellitus mal controlada hipertiroidismo insuficiencia suprarrenal neoplasias sida. Although a large number of bscl cases was previously identified in rio grande do norte rn, a state in northeast brazil, its prevalence in rn regions and municipalities remains unknown. Congenital generalized lipodystrophy also called berardinelliseip congenital lipodystrophy is a rare condition characterized by an almost total lack of fatty adipose tissue in the body and a very muscular appearance. Adipose tissue is found in many parts of the body, including beneath the skin and surrounding the internal organs. Posteriormente fue detallado por seip, en 1959, en 3 pacientes. It is a type of lipodystophy disorder where the magnitude of fat loss determines the severity of metabolic complications. Berardinelliseip congenital lipodystrophy bscl is a rare autosomal recessive disease characterized by a nearcomplete absence of adipose tissue from birth. Envolvimento cardiaco na lipodistrofia total generalizada. Congenital generalized lipodystrophy genetics home. Berardinelliseip congenital generalized lipodystrophy bscl is an ultrarare metabolic disease characterized by hypertriglyceridemia, hyperinsulinemia, hyperglycemia, hypoleptinemia, and diabetes mellitus. Congenital generalized lipodystrophy is an extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues. Cardiometabolic abnormalities in patients with berardinelliseip syndrome.
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