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題 名 | 門克氏扭曲髮徵候群--以Copper-Histidine治療之病例報告=Menkes' Kinky Hair Syndrome--Report of One Case Treated with Copper-Histidine |
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作 者 | 李美青; 莊雅慧; 洪宏翔; | 書刊名 | 中華皮膚科醫學雜誌 |
卷 期 | 21:2 2003.06[民92.06] |
頁 次 | 頁192-197 |
分類號 | 415.596 |
關鍵詞 | 門克氏扭曲髮徵候群; X染色體隱性遺傳; 銅代謝異常; Copper metabolism; Menkes' kinky hair syndrome; Trichorrhexis nodosa; X-linked recessive disorder; |
語 文 | 中文(Chinese) |
中文摘要 | 門克氏扭曲髮徵候群(MKHS)是一種少見的X染色體隱性遺傳銅代謝異常疾病。在此,我譬報告一例罹患MKHS的八個月大男嬰。病人於兩三個月大時,開始出現癲癇發作、發育遲緩。理學檢查可見全身膚色蒼白、臉腫脹以及稀疏、易斷裂、色淡的扭曲狀毛髮。在血液學檢查方面,血漿中的銅(copper)和血漿銅藍蛋白(ceruloplasmin)含量低。將頭髮送光學顯微鏡檢查,可見結節性脆髮症(tricorrhexis nodosa)之變化。掃描式電子顯微鏡呈現髮幹過度風化伴隨頭髮斷裂及結節形成。確立診斷後,病人開始接受每天0.05mg的copper-histidine皮下注射,持續三個月的追蹤治療後,可見髮色、膚色明顯變黑。但心智和神經的損害依然持續存在。 |
英文摘要 | Menkes’ kinky hair syndrome (MKHS) is a rare x-linked recessive disorder of copper metabo- lism. We report an 8-month-old male infant with MKHS. Seizures and growth retardation developed since the first few months of is life. Physical examination showed generalized pale skin, puffy face, and sparse, brittle, light-colored, kinky hairs. Blood tests showed low levels of serum copper and ceruloplasmin. Light microscopic examination of the hairs revealed findings of trichorrhexis nodosa. Excessive weathering with hair fracture and node formation was found under the scanning electron microscope. After daily subcutaneous administration of copper-histidine 0.5 mg for 3 months, skin and hair color improved. However, the mental and neurologic impairment still persisted. |
本系統中英文摘要資訊取自各篇刊載內容。