唐氏症合併先天性分離狀齒樣突及脊髓損傷：病例報告

唐氏症(Down syndrome)是第二十一對染色體數目異常造成的先天性疾病，發生率約1/800，臨床上可能合併有智能障礙、聽力障礙及各種先天性畸形，如先天性心臟病，先天腸胃道畸形，骨骼異常等。常見骨骼異常有髖骨或髖骨脫臼，膝外翻及第一、二頸椎不穩定(atlanto-axial instability, AAI)等，其中第一、二頸椎不穩定應及早發現治療。本篇報告一位七歲唐氏兒因AAI後導致第二頸椎齒樣突斷裂其臨床病程與相關探討。
該男童於89年10月與哥哥玩耍時曾從事翻跟斗、倒立等活動，半年後自90年4月起出現右側肢體明顯無力及步態不穩情形，理學檢查懷疑有第一、二頸椎不穩定及神經壓迫現象，經X光與核磁共振檢查顯示其有先天性分離狀齒樣突(os odontoideum)且合併第二頸椎齒樣突斷裂及脊髓損傷(spinal cord injury)，於5月接受第一次手術，以線圈固定枕骨及第一、二頸椎。因術後復原情況不佳，於6月接受第二次手術，切除第一頸椎椎板及自枕骨至第六頸椎裝置內因定，之後病況穩定轉入接受住院復健治療。入院時，左右側肌力爲4及3分，站立需協助且無法行走，亦合併大小便失禁，復健治療包括弦化肌力、行走及如廁訓練，約一個月住院治療，於出院前左右側肌力恢復至5及4分，功能有顯著進步，可獨自行走短距離及上下樓梯，如廁訓練也成功，無法改善的是頸部活動嚴重受限，被固定於直立姿勢，乃因內固定所致，復健治療無法改善，也影響其執行日常生活之能力。

關鍵字

唐氏症；先天性分離狀齒樣突；脊髓損傷

並列摘要

Down syndrome is a genetic disorder caused by trisomy on chromosome 21 that occurs in 1 of every 800 live births. Down syndrome can involve skeletal malformations that include patella or hip dislocation, genu valgus and atlanto-axial instability (AAI). Prompt recognition and treatment of the latter is important. This case report describes an odontoid fracture due to AAI in a seven-year-old with Down syndrome.
Since October 2000, the child had involved in robust activities including floor tumbling and hand stands. Beginning in April 2001, the right extremities showed signs of weakness and there was an unsteady gait. Upon physical examination, AAI with combined cord compression was suspected. X-ray and MRI showed an os odontoideum combined odontoid fracture with cord compression. In May, the first surgery was carried out and a wire was used to fix the occiput to Cl and C2. Post surgery outcome did not meet expectations. A second surgery was conducted in June, whereupon Cl laminectomy provided internal fixation from the occiput to C6. Upon admittance to the rehabilitation ward, his muscle power was grade four and three over the left and right side, respectively. He could not walk or stand and sphincter incontinence was also noted. Therapy included strengthening, ambulation and bladder/bowel training. After rehabilitative therapy for a month, muscle power had improved to grade five for the left side and grade four for the right side. The patient could walk short distances and climb stairs independently and exhibited improved bladder/bowel control. The only thing that did not improve was the patient's stiff neck, which was caused by the internal fixation. This could not be helped by the therapy and disturbed his daily life.

並列關鍵字

Down syndrome ； os odontoideum ； spinal cord injury

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唐氏症合併先天性分離狀齒樣突及脊髓損傷：病例報告

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