- 期刊
Menkes氏紐結毛髮症：一病例報告
Menkes' Kinky Hair Disease: Report of One Case
摘要
紐結毛髮症是一種性連隱性遺傳疾病，病例大都是男性。在嬰幼兒時期，病兒常呈低體溫、體重增加不良、抽搐、心智運動發育遲緩及毛髮紐結現象。目前認爲此病與銅代謝障礙造成分佈不好有關。病例是一名二個月大的男嬰，第三胎。出生時情況良好，直到一個月大時被發現有眨眼、眼球上吊、四肢抽動及角弓反張的現象。住院時理學檢查：體重2.7公斤。低體溫(35.7℃)。低肌張力，活動力差。皮膚白晢、略爲乾燥、鬆弛。頭髮淺黃色、稀疏、短而粗糙。眼神呆滯，不會追隨光源移動，瞳孔對光反射正常。雙手緊握、頭頸呈角弓反張姿勢。周邊血液檢查及脊髓液檢查正常。血清銅濃度(10mg/de)，藍胞漿素(13.5mg/de)，頭髮銅濃度(9.73ppm)均偏低。腦波檢查右側大腦半球顳葉、枕葉有不正常銳波。眼底檢查發現兩側視神經皆有萎縮。頭髮在顯微鏡下可見紐結(pili torti)現象。住院中病兒之複雜性局部痙孿不易控制，活動力及餵食均欠佳，持續低體溫及呈角弓反張姿勢。於三個月大時死亡。
關鍵字
無資料並列摘要
A male infant, 2-month-old, was delivered normally at term. He weighed 3.0 Kg and was stated to be quite well until convulsion was presented at the age of 1 month. The convulsion was complex partial seizure in character. Physical examinations showed body weight 2.7 Kg (＜3 percentile), body temperature 35.7℃, opsithotonic in posture, staring of eyes and unawareness of the outside environment. His hair appeared sparse, coarse and light yellowish color. Laboratory examinations showed normal hemogram and cerebrospinal fluid data. Low serum copper (10mg/dl), ceruloplasmin (13.5 mg/dl) and hair copper (9.73 ppm) were found. The EEG revealed paroxysmal sharp waves with phase reverses at right temporal and occipital area. Fundus examination showed bilateral optic atrophy. Microscopic examination of the hair showed pili torti (twisting) of the hair. The baby was persisted in hypothermia, poor activity and poor weight gain. The convulsion was poorly controlled and progressed in opisthotonus. The baby died of unknown cause at 3 months of age.