摘要
結節性硬化症(tuberous sclerosis)是一種影響多數身體器官的遺傳疾病，包括腦、皮膚、腎臓、心臓及其他內臓器官或組織均可能發生症狀。吾等共追蹤18名病人及其家族，發現男女發生比率是11比7。診斷年齡自出生後一個月至18歲不等。癲癇、皮膚病變及腦組織鈣化爲最常見的症狀。智障情況則與癲癇之發作有密切的關係。腦、視綱膜、心臓、肺臓及腎臓的腫瘤均被發現並予以適當處理。在較小的孩童、脫色斑、心房（室）腫瘤以及嬰兒點頭性痙攣(infantile spasm)，常是早期診斷的臨床症候。結節性硬化症雖然已被公認爲屬於常染色體顯性遺傳(autosomal dominant inberitance)，但仍有不少病例是由新突變(new mutation)産生。共有6人有家庭史，但其中一名之雙親並無外顯情況(nonpenetrating)。在做遺傳諮詢時，詳細的家族篩檢是相當重要的。
關鍵字
無資料並列摘要
Tuberous sclerosis (TS) is a multiple-system disease involving the brain, skin, kidneys, heart and other visceral organs. There were 18 children with TS at our clinic, and complete studies of these patients and their families were performed. Male to female ratio was 11:7. Age at diagnosis was from 1 month to 18 years. Seizures (infantile spasm, generalized and partial epilepsy), skin lesions and intracranial calcifications were the most common clinical manifestations. Mental retardation was closely correlated with seizure attacks. Neoplasms of the brain, retina, heart, lung and kidneys were all encountered. Hypopigmented macules, intracardiac tumors and infantile spasms were usually the first signs in younger ages and can give hints of early diagnosis of TS. In total, six patients had positive family histories and one of them had non-penetrating parents. Detailed family studies are mandatory prior to genetic counseling.
延伸閱讀
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