Alström syndrome in an adolescent with portal hypertension

Alström syndrome (AS) is a rare genetic disorder with multisystem involvement, including congenital blindness, obesity, severe insulin resistance, Type 2 diabetes, hearing loss, and hepatic dysfunction. We report a male adolescent with AS presenting with right upper quadrant pain, obesity, and Grade 4 insulin resistance. Imaging showed a fatty liver, hepatosplenomegaly, and portal hypertension, while endoscopy revealed non-bleeding esophageal varices. The case highlights that patients with AS are at increased risk for severe liver complications, even in adolescence. Noninvasive imaging, such as shear wave elastography, is essential for early fibrosis detection in AS. Prompt diagnosis and management are crucial to address severe hepatic complications and improve patient outcomes.