All issues > Volume 48(1); 2005

Case Report

Korean J Pediatr. 2005;48(1):93-96. Published online January 15, 2005.

A Case of Moyamoya Disease with Neurofibromatosis Type I

Mi A MA Lee¹, Joo Pil JP Eum¹, Hae Young HY Lee¹, Byung Ho BH Cha¹

¹Department of Pediatrics, Wonju College of Medicine, Yonsei University, Wonju, Korea

Correspondence Byung Ho BH Cha ,Email: cha12bho@wonju.yonsei.ac.kr

Abstract

Neurofibromatosis type I is an autosomal dominant disorder with varied manifestations in bone, soft tissue, the nervous system and skin. This is characterized by cafe-au-lait spots, neurofibromas, Lisch nodules, optic glioma, bony displasia, and intertriginous freckling. One of the more serious aspect of the disease relates to the arterial involvement. Vascular changes in neurofibromatosis may occur in any arterial tree from the proximal aorta to the small arteries but these changes are most common in the renal arteries, aorta, celiac arteries and mesenteric arteries. Of the many complications observed in neurofibromatosis type I, cerebrovascular lesions may be the least appreciated. About 40 cases of neurofibromatosis type I associated with occlusive cerebrovascular disorders have been reported in the literature, but MRI and angiographic findings typical of moyamoya disease are rarely described. We experienced a case of moyamoya disease associated with neurofibromatosis type I in a 3-year-old girl who of complained gait disturbance and paraparesis and showed findings typical of moyamoya disease on MRI and carotid angiogram.

Keywords :Neurofibromatosis typeI , Moyamoya disease