Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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제 1형 신경섬유종증에 합병된 모야모야병 1례

A Case of Moyamoya Disease with Neurofibromatosis Type I

  • 이미아 (연세대학교 원주의과대학 소아과학교실) ;
  • 엄주필 (연세대학교 원주의과대학 소아과학교실) ;
  • 이해용 (연세대학교 원주의과대학 소아과학교실) ;
  • 차병호 (연세대학교 원주의과대학 소아과학교실)
  • Lee, Mi A (Department of Pediatrics, Wonju College of Medicine, Yonsei University) ;
  • Eom, Joo Pil (Department of Pediatrics, Wonju College of Medicine, Yonsei University) ;
  • Lee, Hae Young (Department of Pediatrics, Wonju College of Medicine, Yonsei University) ;
  • Cha, Byung Ho (Department of Pediatrics, Wonju College of Medicine, Yonsei University)
  • 투고 : 2004.08.09
  • 심사 : 2004.09.22
  • 발행 : 2005.01.15
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초록

저자들은 출생 시부터 전신에 분포하는 밀크 커피색 반점이 있고, 액와부에 작은 주근깨를 보이며 정신 지체와 발달 지연등 제1형 신경섬유종증의 소견을 보이는 환아에서 급성 신경학적 쇠약 증세가 있어 시행한 뇌자기공명영상 촬영과 뇌동맥조영 촬영상 모야모야병의 소견이 동반된 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

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.

키워드

참고문헌

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