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- Title
ALSTRÖM SENDROMULU İKİ KARDEŞ OLGU.
- Authors
BAŞ, Veysel Nijat; ÇETİNKAYA, Semra; YILMAZ AĞLADIOĞLU, Sebahat; PELTEK KENDİRCİ, Havva Nur; AYCAN, Zehra
- 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.
- Subjects
ALSTROM syndrome; MULTIPLE organ failure; RETINAL degeneration; CONGENITAL disorders; INSULIN resistance; OVERWEIGHT children
- Publication
Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi, 2012, Vol 6, Issue 4, p232
- ISSN
1307-4490
- Publication type
Article