All issues > Volume 46(1); 2003

Case Report

J Korean Pediatr Soc. 2003;46(1):86-90. Published online January 15, 2003.

A Case of Moyamoya Disease in a Child with Alagille Syndrome

Mi Rang MR Lim¹, So Yaun SY Lee¹, Deok Soo DS Kim¹, Kyung Mo KM Kim¹, Tae Sung TS Ko¹

¹Department of Pediatrics, Asan Medical Center, College of Medicine, Ulsan University, Seoul, Korea

Correspondence Tae Sung TS Ko ,Email: tsko@www.amc.seoul.kr

Abstract

Alagille syndrome is a autosomal dominant disorder characterized by intrahepatic bile duct paucity and resultant chronic cholestasis in combination with cardiac(mainly peripheral pulmonary stenosis), skeletal, ocular, and facial abnormalities. In addition to the pulmonary stenosis, in large series, anecdotal reports of vascular lesions have concerned the renal artery, aorta, hepatic artery, carotid artery, celiac artery or subclavian artery. Theses diffuse vascular abnormalities, which appear to be a feature of Alagille syndrome, suggest Notch signaling pathway defects affect angiogenesis. The associations of Alagille syndrome with moyamoya disease, the chronic cerebrovascular occlusive disease, were reported and suggested as additional evidence of vasculopathy of Alagille syndrome. We report another 25 month-old Alagille syndrome girl who presented with acute left hemiparesis and was diagnosed with moyamoya disease through the cerebral angiographic study.

Keywords :Alagille syndrome, Moyamoya disease, Vasculopathy