摘要
本文報告一家族中二代有三例結節性硬化症，患者及其家族中其他成員均接受詳細病史檢查、眼底檢查、視野檢查、理學檢查、放射線檢查、腎臟超音波檢查、頭部電腦斷層檢查、及皮膚切片檢查，結果顯示三例有皮脂腺瘤，二例有視網膜星狀細胞瘤、皮膚低色素斑、腦部皮質結節性硬化、室管膜下結節、顱內鈣化及腎臟缺陷瘤，一例右眼窩異位性淚腺，一例肝臟缺陷瘤。並發現視神經盤或黃斑部有視網膜星狀細胞瘤的患者，有視神經萎縮及視野缺損，其餘視力正常，預後良好。
關鍵字
無資料並列摘要
Tuberous sclerosis is a single-gene autosomal dominant disorder associated with hamartomatous malformations of multiple organ system. Because extremely variable clinical expressions and a high rate of spontaneous gene mutation, genetic counselling of those patients are difficult and important. Three members of one family, mother and two male offsprings, suffered from significant systemic and ocular manifestations of tuberous sclerosis were reported. Adenoma sebaceum, skin hypopigmented macules and shagreen patchs, ungal fibromata, intracranial tuberous calcification, kidney and liver hamartoma were their major postive systemic lesions. In their ocular examination, optic disc astrocytoma, mulberry retinal astrocytoma, ectopic lacrimal gland of orbit were also observed. Clinically, Variable phenotype of hereditary familial tuberous sclerosis are presented. Detailed systemic and ocular examinations are highly suggested in all the risk member of the affected family which including: (1) History of genetic counselling. (2) Skin examination. (3) Cranial CT. (4) Skull, hand and foot X-ray. (5) Renal ultrasound and (6) Fundus and fluorescein angiography examinations through a dilated pupil.
延伸閱讀
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