제1형 신경섬유종증 환자에서 동반된 다발망막모세혈관종
Multiple Retinal Capillary Hemangioma Associated with Neurofibromatosis Type 1
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목적: 제1형 신경섬유종증에서 동반된 다발망막모세혈관종과 이로 인한 신생혈관녹내장 1예를 경험하였기에 문헌 고찰과 함께 보고하는 바이다. 증례요약: 이주 전부터 시작된 좌안 시력저하와 욱신거리는 통증을 주소로 13세 남자 환아가 내원하였다. 좌안의 홍채 리쉬결절과신생혈관 및 전방각 신생혈관이 관찰되었고 고안압으로 각막상피부종이 관찰되었다. 좌안 망막 상측 적도부 주위에 다발망막모세혈관종과 동반된 망막정맥의 구불거림, 확장 및 유리체출혈이 관찰되었다. 우안은 홍채 유두결절 외 다른 특이 소견은 없었다. 전신에 다수의 담갈색 반점과 액와부 주근깨가 관찰되었고 뇌자기공명영상에서 기저핵, 좌측 시상 및 양측 소뇌 백질 영역에 다발성으로 T2 신호 증강이 관찰되었지만 혈관조영 뇌자기공명영상에서 혈관 이상은 발견되지 않았다. 안압하강제 점안에도 고안압이 유지되었고 여과 수술 후 안압은 정상화되었다. 결론: 본 증례를 통하여 제1형 신경섬유종증 환자에서 다발망막모세혈관종이 동반될 수 있으며 이로 인하여 신생혈관녹내장이 발생할 수 있음을 알 수 있었다.
Abstract
Purpose: To report a case of multiple retinal capillary hemangioma associated with neurofibromatosis type 1 and resulting neovascular glaucoma. Case summary: A 13-year-old boy was admitted with complaint of visual disturbance and dull pain in his left eye which had begun two weeks prior. Lisch nodules were observed in his left iris and corneal opacity with neovascularization of the iris and angle were detected in the same eye. Multiple retinal capillary hemangiomas with increased tortuosity and congestion of feeding retinal vessels were observed on the upper equator of the left retina; in addition, vitreous hemorrhage was observed. There were no other abnormalities except iris mammillations in the right eye. Numerous café au lait macules were observed on the patient’s entire body. He also exhibited axillary freckling. On brain magnetic resonance imaging, T2-weighted signal intensity was increased in the basal ganglia, left thalamus, and cerebellar white matter; however, no vessel abnormalities were observed on magnetic resonance angiography. High intraocular pressure (IOP) persisted despite the use of IOP lowering agents and IOP was normalized after trabeculectomy with mitomycin C administration. Conclusions: This case shows that multiple retinal capillary hemangiomas can be accompanied by neurofibromatosis type 1, which may result in neovascular glaucoma.
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