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A Case of Moyamoya Disease with Neurofibromatosis Type I

Korean Journal of Pediatrics 2005;48(1):93-96.
Published online January 15, 2005.
A Case of Moyamoya Disease with Neurofibromatosis Type I
Mi A Lee, Joo Pil Eum, Hae Young Lee, Byung Ho Cha
Department of Pediatrics, Wonju College of Medicine, Yonsei University, Wonju, Korea
제 1형 신경섬유종증에 합병된 모야모야병 1례
이미아, 엄주필, 이해용, 차병호
연세대학교 원주의과대학 소아과학교실
Correspondence: 
Byung Ho 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.
Key Words: Neurofibromatosis typeI , Moyamoya disease


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