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題 名 | Cerebrotendinous Xanthomatosis with Psychiatric Disorders: Report of Three Siblings and Literature Review=腦及肌腱黃瘤症合併精神疾病--三姐弟之個案報告及文獻回顧 |
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作 者 | 李昱; 林博彥; 邱念睦; 張文能; 文榮光; | 書刊名 | 長庚醫學 |
卷 期 | 25:5 2002.05[民91.05] |
頁 次 | 頁334-340 |
分類號 | 415.933 |
關鍵詞 | 腦及肌腱黃瘤症; 精神疾病; 智能不足; 憂鬱; Cerebrotendinous xanthomatosis; Psychiatric disorders; Mental retardation; Depression; |
語 文 | 英文(English) |
中文摘要 | 腦及肌腱黃瘤症(cerebrotendinous xanthomatosis,簡稱CTX)是一種罕見的家族性體染色體隱性遺傳疾病,是由於sterol 27-hydroxylase gene之突變所引起。這種極少見的病症亦可合併精神疾病,此類個案研究在國內雖有張等之報告,但尚不曾有合併精神疾病之報告發表過。茲將介紹一家族中有三姐弟罹患腦及肌腱黃瘤症合併智能不足的病例報告,其中一位病患出現情緒低落,容易哭泣與易怒,且有食慾不振,失眠,疲勞,悲觀想法達六年之久,後來轉介至精神科診斷為輕鬱症,經過兩年半之追蹤治療,其憂鬱症大為改善,本文並針對CTX合併精神疾病的現象做一文獻回顧。 |
英文摘要 | Cerebrotendinous xanthomatosis (CTX), a rare familial lipid metabolic disease inherited via an autosomal recessive trait, is caused by mutations of the sterol 27-hydroxylase gene. Psychiatric disorders may occur in patients with CTX. In Taiwan, Chang et al presented patients with CTX. However, there has not been a case presented about CTX with psychiatric disorders in Taiwan. We present three siblings in one family with CTX combined with moderate mental retardation. One of the siblings had long-term depressed mood, irritability, poor appetite, insomnia, fatigability, and pessimistic thinking and was diagnosed as dysthymic disorder. After 2.5 years of antidepressant treatment at our outpatient clinic, the depressive symptoms of the dysthymic sibling improved greatly. However, the results of the IQ tests of the three siblings did not change after effective treatments for physical manifestations of CTX. In addition, the authors reviewed the literature of CTX combined with psychiatric disorders. |
本系統中英文摘要資訊取自各篇刊載內容。