第三屆 杜裘亨氏肌肉失養症的早期症狀 -口語發展遲緩個案報告

Delay in Speech and Language Development  As Early sign of Duchenne Muscular Dystrophy Cases Report
張明裕 趙可屏 趙文崇  Ming-Yuh Chang, Ke-Ping Chao, Wun-Tsong Chaou
財團法人彰化基督教醫院  Changhua Christian Hospital

報告緣起：
杜裘亨氏肌肉失養症是一種台灣常見的性聯遺傳性肌肉病變。罹患此種疾患的病童在嬰幼兒時期沒有什麼症狀，常常等到五歲左右才會因走路不穩，步履蹣跚被注意到。因此對於沒有家族史的患童很難早期診斷。彰化基督教醫院發展遲緩兒童聯合評估中心在過去半年中經驗三位杜裘亨氏肌肉失養症個案，以說話語言發展遲緩前來接受檢查，最後證實為此遺傳性疾患，特提出報告。早期診斷不但可以早期接受復健防禦治療，更可以提供遺傳資訊給父母，避免家中更多的罹患病童出現。


個 案 一：
現為六歲男童，三歲四個月大時因語言發展遲緩前來就診評估。當時患童尚無口語，經過一般理學檢查及神經學檢查並無異樣，包括腦波檢查及腦幹聽覺反應皆正常，我們發現其語言理解亦正常，但語言使用（Verbal dyspraxia）有問題，雖囑其進一步進行語言分析及在發展門診追蹤，但不久即失去聯繫。該童於四歲半左右因逐漸走路姿勢怪異，容易跌倒，到台中榮總接受檢查，確定為杜裘亨氏肌肉失養症，目前在本院復健治療，其語言仍然較差。


個 案 二：
為三歲大男童，到本院發展遲緩評估中心接受評估，主訴為口語發展遲緩。語言發展只有類似叫哥哥的聲音，身體檢查發現，除了走路的足距較寬，其雙下肢小腿肌肉有較同年齡幼童粗大。故除安排腦波檢查及腦幹聽力反應（皆正常），並抽血檢查血中磷酸肌酐酵素，發現高達23690，之後安排住院，接受肌肉切片檢查證實為杜裘亨氏肌肉失養症，我們亦進行病童及母親血液基因檢查，但未發現其基因異常處。


個 案 三：
現為五歲男童，為個案二的表兄（母親為姊妹）。兩歲大時曾因口語發展遲緩，首度帶到本院發展門診接受檢查。經過常規檢查及語言能力評估(腦波及腦幹聽力反應皆正常)後，確有口語發展遲緩現象，安排接受語言治療。三歲時意外發現肝酵素異常升高，GOT/GPT為：177/228。個案的肝炎追蹤檢查及治療時，發現血中磷酸肌酐酵素也高達18997，在接受肌肉切片檢查之後，確定亦為杜裘亨氏肌肉失養症。


討 論：
* 杜裘亨氏肌肉失養症為台灣常見先天性遺傳的肌肉疾病，病患主要問題是大約入學前開始，肌肉逐漸萎縮而失去力量。一般醫師再接受教育時，大多注意其肌肉問題相關表徵及遺傳問題，或許會注意此類病患也常有智能問題，一般認為是邊緣性智商或至多輕度智能障礙。但由本中心提出之病歷，以及國外文獻，語言發展遲緩也可見於杜裘亨氏肌肉失養症。

* 有文獻報告指出，利用相關發展量表（Griffiths's mental development scales）及語言量表（Reynell language scales），杜裘亨氏肌肉失養症患者會有發展遲緩，其發展遲緩最明顯在於動作及語言兩方面，利用此一發現，該文獻希望有助於早期診斷，以防止家族中繼續出現杜裘亨氏肌肉失養症患者。

* 英國另一文獻則指出，造成延遲診斷杜裘亨氏肌肉失養症，主要是無法把非運動方面，特別是說話語言遲緩，辨別出是根於杜裘亨氏肌肉失養症。他們提出醫療人員要更熟記並注意這樣的情況，並降低條件要求，多測量血中磷酸肌酐酵素。

* 若給予智商衡鑑，全智商（Full IQ）普遍較正常低，語言智商（Verbal IQ）會比操作智商（Performance IQ）更差，但在較大病童時，此差異會較不明顯。如果更進一步分析其語言遲緩，根據我們的經驗及文獻內容，語言理解（Verbal comprehension）大多較接近正常，主要是語用（Verval dyspraxia），即語言表達方面，會有極明顯的落後。


結 論：
在無任何家族史協助之下，遺傳性杜裘亨氏肌肉失養症個案的早期診斷比較困難。由於此症常合併輕度的認知發展遲緩，成為比肢體運動障礙更早尋求醫療協助的原因，而且常是以口語發展遲緩來表現。此三個案提醒早期療育評估人員，應特別注意此現象。經由血清學及基因的檢查可提供早期診斷的確立。除了可早期預防姿勢骨骼的變形惡化發生外，進而可避免家庭日後因再增添罹患病童的困擾。


Duchenne Muscular dystrophy is a frequent reported X-linked muscular disorder. Due to no special finding during infancy, they were noted with unstable gait till about 5 years old. There is difficulty to early diagnose such disorder when there is no associated family history. The development evaluation center in Changhua Christian Hospital reported 3 cases of Duchenne muscular dystrophy with delay in speech and language development as early sign.

Case 1 is 6 years old male child now. He was sent to our center for evaluation due to speech delay when 3 year and 4 months old. The general examination and neurological examination (including electroencephalography and brainstem auditory evoked potential) were normal. We arranged speech study and outpatient department follow up. But he was not sent back. He suffered from unstable gait and easy to fall when about 4.5 years old. He was sent to another medical center, where Duchenne muscular dystrophy was confirm.



Case 2 was 3 years old male child. His chief complaint was speech development delay. At our development evaluation center, we noted widening gait and pseudohypertrophy of both small legs. Apart from electroencephalography and brainstem auditory evoked potential, we also checked his serum creatine phosphokinase. The level of serum creatine phosphokinase was as high as 23690. He was diagnosed as Duchenne muscular dystrophy by muscle biopsy with special stain (dystrophy stain).

The case 3 boy is 5 years old now. His mother is the sister of case 2's mother. He was sent to our development evaluation center due to speech delay at about 2 years old. After complete evaluation (including electroencephalography and brainstem auditory evoked potential), speech therapy was suggested. He was noted with abnormal liver function test (GOT 177, GPT 228) later. Under the impression of hepatitis, we found his serum creatine phosphokinase as high as 18997. After muscle biopsy, Duchenne muscular dystrophy was confirmed.

Early diagnosis of Duchenne muscular dystrophy is difficult without associated family history. The patient of DMD is frequently present as mild mental delay, especially as speech and language delay. The family easily called for medical help due to these problems. So we reported these 3 cases to reminder health personals to become aware of this condition and hope to diagnose this disorder early. So we can perform physical therapy to prevent further disability in these patients and avoid that their parents give birth to another victim of Duchenne muscular dystrophy.