筋生検・ミトコンドリアDNA遺伝子診断などによりMELASと診断され,脳卒中様発作を繰り返し,頭部MRIで病変が確認された成人MELAS5症例に,少量のジクロロ酢酸を含むLiverall^を投与し,脳卒中様発作を抑制できるか臨床経過を検討した.内服開始後は,全例で頭部MRI画像上病変を認める脳卒中様発作は生じなかった.従来小児科領域で報告されていた必要量よりも少量で発作を抑制できる可能性があると考えられた.しかし,血清中の乳酸・ピルビン酸は異常値を示す場合もあり,痙攣発作やイレウスなどの合併症状を呈する症例も2例あり,今後の検討が必要と考えられた.本論文の要旨は,第44回日本神経学会総会(横浜,2003年5月)において発表した.In five adult patients with MELAS, we evaluated clinical symptoms, FLAIR and DWI brain MRI, and serum level of lactate and pyruvic acid, to assess whether stroke-like episodes in MELAS are suppressed by small dose of dichloroacetate. After beginning oral therapy of Liverall^ for MELAS, none of the five cases showed any occurrence of the stroke-like episodes associated with brain MRI lesions. We noticed that the stroke-like episodes were suppressed by using a smaller dose of dichloroacetate, compared with the dose required for therapy of pediatric patients with MELAS. In spite of favorable effect of Liverall^ for MELAS in symptomatic and MRI evaluations, the serum level of lactate and pyruvic acid continued to show abnormal values and convulsive seizures or ileus occurred in a few cases. Further investigations are required to know whether Liverall^ is a useful therapeutic drug
