Birce İzgi AKÇAY, Selçuk TEKE, Yasin Maruf ERGEN, İsmihan Merve TEKİN, Necati BALAMTEKİN
Gulhane Medical Journal - 2026;68(2):147-150
Alström syndrome (AS) is a rare autosomal recessive ciliopathy caused by pathogenic variants in the ALMS1 gene on chromosome 2p13, with multisystem involvement including the retina, cochlea, heart, liver, and kidneys. It is characterized by progressive cone-rod dystrophy, sensorineural hearing loss, truncal obesity, insulin resistance, type 2 diabetes mellitus and cardiomyopathy. Although hepatic involvement is frequent, advanced complications such as portal hypertension and variceal bleeding are extremely rare in childhood. We report the case of a 16-year-old girl with AS who presented with hematemesis and altered mental status. Laboratory evaluation revealed chronic liver disease and diabetic ketoacidosis. Upper gastrointestinal endoscopy demonstrated grade 2-3 esophageal varices that were treated with band ligation. Genetic testing identified a homozygous pathogenic frameshift mutation (NM_001378454.1:c.10218del, p.Ser3407Valfs*12) in exon 15 of the ALMS1 gene. This patient is the youngest reported pediatric AS case in Türkiye presenting with life-threatening variceal hemorrhage secondary to portal hypertension. The case underscores the importance of early genetic confirmation and proactive hepatic monitoring in pediatric patients with AS.
