Monday, November 15, 2010

56 王先生38歲,他在近2年來逐漸變得多疑,事事挑人毛病,偶會爆發脾氣,同時無法集中注意力,手指會出現不規則扭動,無法長時間緊握一件物體。追問其家族史發現他的爸爸在45歲左右有類似的症狀,發病幾年後已去世。最可能之診斷是:
 魏斯特氏症候群(West’s syndrome) 亞爾培氏症(Alper’s disease)
貝爾氏麻痺(Bell’s palsy) 亨丁頓氏症(Huntington’s disease)

patient presented with huntington's chorea
亨丁頓舞蹈症屬於體染色體顯性遺傳,



Alpers' disease, also called Alpers' syndrome,[1] Alpers' Huttenlocher disease, progressive neuronal degeneration of childhood,[1] progressive sclerosing poliodystrophy, and progressive infantile poliodystrophy, is a progressive degenerative disease of the central nervous system that occurs mostly in infants and children. It is an autosomal recessive disorder that is sometimes seen in siblings. Alpers' disease is caused by certain genetic mutations in the POLGgene.
First signs of the disease, which include intractable seizures and failure to meet meaningful developmental milestones, usually occur in infancy, after the first year of life, but sometimes as late as the fifth year.


West syndrome or West's Syndrome is an uncommon to rare epileptic disorder in infants. It is named after the English physician

The syndrome is age-related, generally occurring between the third and the twelfth month, generally manifesting around the fifth month. There are various causes ("polyetiology"). The syndrome is often caused by an organic brain dysfunction whose origins may be prenatal, perinatal (caused during birth) or postnatal.

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