@article{article_549929, title={TWO SIBLINGS WITH ALSTROM SYNDROME}, journal={Türkiye Çocuk Hastalıkları Dergisi}, volume={6}, pages={232–236}, year={2012}, author={Baş, Veysel Nijat and Çetinkaya, Semra and Ağladıoğlu, Sebahat Yilmaz and Kendirci, Havva Nur Peltek and Aycan, Zehra}, keywords={Alstrom syndrome, obesity}, 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}, number={4}, publisher={T.C. Sağlık Bakanlığı Ankara Şehir Hastanesi}