망막 이상을 보이는 주버트 증후군 1예
A Case of Joubert Syndrome Accompanied with Retinal Abnormality
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목적: 주버트 증후군은 소뇌와 뇌간을 주로 침범하는 드문 질환으로, 주버트 증후군에 동반된 망막 이상 1예를 경험하였기에 보고하고자 한다. 증례요약: 9세 여아가 양안 저시력과 안진, 주시 장애를 주소로 내원하였다. 내원 시 최대교정시력 우안 20/80, 좌안 20/80이었으며사시는 관찰되지 않았다. 색각 검사상 양안 전색약 소견을 보였다. 전안부 검사상 이상소견을 보이지 않았으나 안저검사상 양안 주변부 망막의 미만성 색소침착 및 변성, 혈관 세약, 시신경 유두의 창백이 관찰되었다. 환아는 전반적인 발달지연, 근긴장도 저하가 있었으나 유전자 검사 및 선천 대사질환 검사는 정상이었다. 뇌자기 공명영상에서 중뇌의 대구치 징후(molar tooth sign) 및 소뇌 하충부결손, 제4 뇌실 확장이 관찰되었다. 결론: 주버트 증후군에서 망막 색소변성 및 시기능 이상이 발생할 수 있으므로 이에 대한 적절한 평가가 필요하다.
Abstract
Purpose: Joubert syndrome is a rare disorder which affects the cerebellum and the brain stem. Herein, we report a case of Joubert syndrome accompanied with retinal abnormality. Case summary: A 9-year-old female visited our hospital with chief complaints of low vision in both eyes, nystagmus, and lack of gaze movement. The best-corrected visual acuity in her right eye was 20/80 and in the left 20/80 and heterotropia was not observed. She appeared to have incomplete total color blindness on the color vision test. The anterior segment test showed no abnormal findings other than diffuse pigmentation and degeneration of the peripheral retina, vascular attenuation, and pale optic disc in both eyes on fundus examination. The patient showed overall developmental delay and decreased muscle tension, but genetic and congenital metabolic disease tests were normal. The molar tooth sign of the midbrain, defect in the lower part of the cerebellum and dilatation of the fourth ventricle were observed on magnetic resonance imaging. Conclusions: Appropriate evaluation of retinitis pigmentosa and visual function should be performed in Joubert syndrome patients.
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