결절경화증환자에서 발생한 성상세포 과오종과 연관된 시신경섬유 결손
Retinal Nerve Fiber Layer Defect Associated with Astrocytic Hamartoma in a Patient with Tuberous Sclerosis
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목적: 시신경 유두 및 망막의 과오종과 연관되어 시신경섬유층의 결손이 발생한 결절경화증 환자를 경험하여 이를 보고하고자 한다. 증례요약: 결절경화증으로 진단받고 항경련제 Vigabatrin을 복용 중인 6세 남아가 약제에 의한 시야변화 확인을 위해 소아신경과에서의뢰되었다. 환아는 안저검사상 우안의 시신경유두 위쪽 테두리에 연접한 1/2 시신경 유두 크기의 성상세포 과오종이 확인되었으며다른 특이소견은 관찰되지 않았다. 초진 당시 좌안에는 특이 소견이 없었다. 초진 1년 6개월 후 우안의 시신경유두주위 성상세포 과오종의 크기가 다소 증가하였고 좌안에는 1.5 유두직경거리의 황반하측에 새로운 망막 과오종이 발생하였다. 초진 3년 후 우안에 크기가증가했던 시신경유두 성상세포 과오종이 과오종부위에 상이측과 중심하부방향으로 시신경섬유결손이 발생하였다. 결론: 결절경화증 환자에서 성상세포 과오종은 일반적으로 변하지 않는다고 알려졌으나 본 증례와 같이 크기가 증가하면서 시신경섬유결손을 야기할수도 있으므로 이를 염두에 두고 면밀히 추적관찰하여야 할 것이다.
Abstract
Purpose: To report the progression of an astrocytic hamartoma of the right optic nerve head as well as the retina, and the progression of retinal nerve fiber defect associated with astrocytic hamartoma in a patient with tuberous sclerosis. Case summary: A 6-year-old boy with tuberous sclerosis and an astrocytic hamartoma of the right optic nerve head, which was found at the time of ophthalmologie examinations, was referred from the pediatric neurologist for evaluation of the vigabatrin-associated visual field changes. Fundus examination revealed 1/2 disc diameter (DD)-sized astrocytic hamartoma located at the margin of the superior part of the optic nerve. The retina of the left eye was normal. Eighteen months after the first visit, enlarged optic disc hamartoma of the right eye and newly onset retinal astrocytic hamartoma located approximately 1.5 DD inferior to the fovea of the left eye were found. Three years later, an increase in the size of the astrocytic hamartoma of the right optic nerve and development of retinal nerve fiber defects were observed. Conclusions: Astrocytic hamartoma in patients with tuberous sclerosis is usually stable without progression. However, in our patient, astrocytic hamartoma showed progression, and development of retinal nerve fiber defects occurred. Regular follow-up is necessary for astrocytic hamartoma in patients with tuberous sclerosis.
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