Alström Sendromulu İki Kardeş Olgu

Abstract

Alström sendromu ALMS1 geninde mutasyon sonucu oluşan çoklu organ tutulumu ile seyreden otozomal resesif bir bozukluktur. Ana fenotipik özellik bebeklik döneminde başlayan ve ilerleyen retinal distrofiye bağlı gelişen körlük, nörosensöriyal işitme kaybı, insülin direnci ve obezitedir. İlişkili endokrinolojik bulgular hiperinsülinemi, erken başlangıçlı tip 2 diyabet ve hipertrigliseridemidir. Burada, nistagmus, fotofobi ve obezite şikayetleri ile kliniğimize başvuran, Alström sendromu düşünülen ve hipertrigliseridemi, insülin rezistansı ve karaciğer fibrozisi saptanan iki kardeş olgu sunduk. Obez çocuklarda, eşlik eden ek bulgular varsa, Alström sendromu da akılda tutulmalıdır.

Keywords

• Alström sendromu, obezite

TWO SIBLINGS WITH ALSTROM SYNDROME

Abstract

Mutations in the ALMS1 gene have been found to be causative for Alstrom syndrome, a rare autosomal recessive disease characterized by multiorgan dysfunction. The predominat features are blindness due to congenital retinal dystrophy beginning in infancy, sensorineural hearing loss, insulin resistance, and obesity. Associated endocrinologic features include hyperinsulinemia, early-onset type 2 diabetes, and hypertriglyceridemia. Hereby, we presented two siblings who admitted to our clinic with the complaint of nystagmus, photophobia, and obesity and considered as Alstrom syndrome. Hypertrigliseridemia, insulin resistance, and hepatic fibrosis have also been detected. Alstrom syndrome should be kept in mind in obese children with additional findings

Keywords

• Alstrom syndrome, obesity

References

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