結節性硬化症合併視網膜星狀細胞缺陷瘤－病例報告

Tuberous Sclerosis with Retinal Astrocytic Hamartoma-A Case Report

柯豐隆(Feng-Long Ke) ； 王璐琦(Luh-Chyi Wang) ； 游旭明(Shiuh-Ming You) ； 陳文淵(Wen-Iuan Chern)

《中華民國眼科醫學會雜誌》 35卷2期 (1996/06) Pp. 235-240

https://doi.org/10.30048/ACTASOS.199606.0019

摘要

本文報告一名34歲女性結節性硬化症(tuberous sclerosis)病例，且因侵犯肺部合併肺炎，造成呼吸衰竭而住進加護病房。患者有接受詳細的全身檢查及眼科檢查，結果發現有視網膜星狀細胞缺陷瘤(retinal astrocytic hamartoma)、皮脂腺瘤(adenoma sebaceum)、鯊魚皮狀斑(shagreen patch)、指甲纖維瘤(ungula fibromas)、多發性腎囊腫(multiple renal cyst)、腦室旁鈣化結節(subependymal hamartoma with calcification)及肺部淋巴肌纖維增生(pulmonary Iymphangiomyofibromatosis)等，本文並討論此病症在臨床及優生學上的重要性。

並列摘要

We present a 34-year-old female who suffered from dyspnea and cyanosis. Patient was sent to ER where chest X-ray film revealed honey-comb change and infiltrative change over bilateral low lung regions. Patient received a series of examinations and revealed: retinal astrocytic hamartoma, adenoma sebaceum, shagreen patch, ungual fibromas, multiple renal cysts, subependymal hamartoma with calcification and pulmonary lymphangiomyofibromatosis. Tuberous sclerosis was diagnosed.
Tuberous sclerosis was reviewed and the role of ophthlamologist for this congenital systemic disease was discussed.

並列關鍵字

tuberous sclerosis ； retinal astrocytic hamartoma ； pulmonary lymphangiomyofibromatosis ； shagreen patch