모야모야병 환자에서 안과검사를 통해 모야모야증후군으로 진단한 1예
A Case of Moyamoya Syndrome Diagnosed by Ophthalmic Examination in a Patient with Moyamoya Disease
1
조회
0
다운로드
2
인용
0
참고문헌
키워드
초록
목적: 중년의 모야모야병 환자에서 안과검사를 통해 제1형 신경섬유종증을 추가 진단하여 모야모야증후군으로 진단한 예를 보고하고자 한다. 증례요약: 내원 2년 전 두부외상 후 시행한 뇌영상검사에서 모야모야병으로 진단 받은 60세 남자가 내원하였다. 초진 시 최대 교정시력 우안 무광각, 좌안 20/25, 안압은 우안 8 mmHg, 좌안 10 mmHg였다. 안저검사에서 우안은 매체혼탁으로 안저가 관찰되지 않았고, 좌안은 시신경유두함몰비 증가 이외 특이 소견이 없었지만, 적외선안저영상에서 다수의 흰색 병변, 형광안저혈관조영술에서 군데군데 맥락막충만지연이 관찰되었다. 경과 관찰 중 세극등현미경검사에서 리쉬결절을 발견한 이후, 피부에서 다발성 담갈색반점 및 신경섬유종을 확인하여 제1형 신경섬유종증으로 진단할 수 있었다. 결론: 모야모야병을 가진 환자를 진료할 때 모야모야병에 의한 안구 이상뿐 아니라 모야모야병과 연관될 수 있는 전신질환의 동반 여부를 세심한 안과검사를 통해 확인해야 한다. 특히 제1형 신경섬유종증은 모야모야증후군과 연관성이 높은 질환으로, 이 경우에는 눈을 포함한 전신의 혈관병증 및 그 합병증 발생에 대한 경과 관찰이 필요하다.
Abstract
Purpose: To report a case of moyamoya syndrome after an additional diagnosis of neurofibromatosis type 1 (NF 1) using an ophthalmic examination in a middle-aged patient with moyamoya disease. Case summary: A 60-year-old male with no specific past medical history except moyamoya disease visited our hospital for an ophthalmic examination. Two years prior, he had been diagnosed with moyamoya disease by brain imaging performed after a head trauma. At the first visit, his best corrected visual acuity was no light perception in the right eye (OD) and 20/25 in the left eye (OS). The intraocular pressure was 8 mmHg (OD) and 10 mmHg (OS). On fundus examination, the right eye showed a dense opacity of an ocular media and the left eye showed no abnormality except an increased cup-to-disc ratio. However, infrared imaging showed multiple whitish lesions in the left eye. Fluorescein angiography showed a patchy choroidal filling delay. During the follow-up, slit-lamp microscopy revealed Lisch nodules and multiple café au lait spots and neurofibromas were found in the skin which led to the diagnosis of NF 1. Conclusions: When examining patients with moyamoya disease, ophthalmologists should check not only ocular comorbidity associated with moyamoya disease but also ocular comorbidity with other systemic diseases that can accompany moyamoya disease. NF 1 is the most common systemic disease associated with moyamoya syndrome. In this case, appropriate follow-up was essential to monitor the development of ocular or systemic vasculopathies and their complications.
참고문헌 (16)
- Scott RM, "Moyamoya disease and moyamoya syndrome", N Engl J Med, 360, pp.1226~1237 (2009)[DOI]
- Williams M, "Moyamoya disease presenting to the ophthalmology clinic", Can J Ophthalmol, 41, pp.633~634 (2006)[DOI]
- 피지훈, "Moyamoya Syndrome : A Window of Moyamoya Disease", 대한신경외과학회지, 57(6), pp.408~414 (2015), 대한신경외과학회
- Huson S, "Ophthalmic manifestations of neurofibromatosis", Br J Ophthalmol, 71, pp.235~238 (1987)[DOI]
- 방재순, "신경섬유종증의 안과적 소견", 대한안과학회지, 49(11), pp.1829~1838 (2008), 대한안과학회
- Takeuchi K, "Hypoplasia of the bilateral internal carotid arteries", Brain Nerve, 9, pp.37~43 (1957)
- Suzuki J, "Cerebrovascular "moyamoya" disease. Disease showing abnormal net-like vessels in base of brain", Arch Neurol, 20, pp.288~299 (1969)[DOI]
- Witmer MT, "Ophthalmic artery ischemic syndrome associated with neurofibromatosis and moyamoya syndrome", JAMA Ophthalmol, 131, pp.538~539 (2013)[DOI]
- Ferner RE, "Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective", Lancet Neurol, 6, pp.340~351 (2007)[DOI]
- 이연희, "제 1형 신경섬유종증 환자에서 발생한 절반-망막중심정맥폐쇄", 대한안과학회지, 51(1), pp.150~154 (2010), 대한안과학회
- Salyer WR, "The vascular lesions of neurofibromatosis", Angiology, 25, pp.510~519 (1974)[DOI]
- Hamilton SJ, "Insights into the pathogenesis of neurofibromatosis 1 vasculopathy", Clin Genet, 58, pp.341~344 (2000)
- Viola F, "Choroidal abnormalities detected by near-infrared reflectance imaging as a new diagnostic criterion for neurofibromatosis 1", Ophthalmology, 119, pp.369~375 (2012)[DOI]
- Abdolrahimzadeh S, "Morphologic and vasculature features of the choroid and associated choroid-retinal thickness alterations in neurofibromatosis type 1", Br J Ophthalmol, 99, pp.789~793 (2015)[DOI]
- Koss M, "Moyamoya syndrome associated with neurofibromatosis Type 1: perioperative and long-term outcome after surgical revascularization", J Neurosurg Pediatr, 11, pp.417~425 (2013)[DOI]
- Monroe CL, "Dissecting clinical heterogeneity in neurofibromatosis type 1", Annu Rev Pathol, 12, pp.53~74 (2017)[DOI]