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題名 | Primary Systemic Carnitine Deficiency Presenting as Recurrent Reye-Like Syndrome and Dilated Cardiomyopathy=以反覆類雷氏症發作及擴張型心肌病變表現之原發型系統性肉鹼缺乏症 |
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作者 | 侯家瑋; | 書刊名 | 長庚醫學 |
卷期 | 25:12 2002.12[民91.12] |
頁次 | 頁832-837 |
分類號 | 417.592 |
關鍵詞 | 肉鹼; 雷氏症; 心肌病變; Carnitine; Reye's syndrome; Cardiomyopathy; |
語文 | 英文(English) |
中文摘要 | 原發型肉鹼缺乏症是極罕見的先天代謝疾病。一名六歲女童在住院九次後才被診斷出罹患這種疾病,病人主要的症狀包括新生兒期的代謝性酸血症,四歲以前陸續出現抽搐、重覆感染、急性腦症及擴張型心肌病變。五歲以後又出肝腫大、低血醣症及高血氨症。經過口服L型肉鹼治療(劑量50至100mg/kg/天),一年半以來不再有類似症狀,心臟功能也恢復正常。缺少肉鹼有致死的可能,但若能及早發現,仍是可以治療的。當幼兒出現類似雷氏症的症狀時,肉鹼缺乏症是必須考慮的疾病之一,應及早給予L型肉鹼治療。 |
英文摘要 | Canitine deficiency syndrome is a rare and potentially fatal but treatable metabolic disorder. I present a 6-year-old girl with primary systemic carnitine deficiency (SCD) proved by very low plasma carnitine level. Her major clinical features included neonatal metabolic acidosis epilepsy, recurrent infections, acute encephalopathy, and dilated cardiomyopathy with heart failure before 4 years of age. Other features such as hepatomegaly, hypoglycemia, or hyperammonemia were noted around 5 years of age. Her health improved with resolving cardiomyopathy after the use of L-carnitine (50-100 mg/kg/day). Patients with SCD have high morbidity and mortality. If SCD is suggested as a cause of reye-like syndrome or dilated cardiomyopathy, L-carnitine therapy should be initiated as diagnostic test immediatedly, until the definite diagnosis is confirmed. |
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