脳血管性痴呆に類似の多彩な精神症状を呈したミトコンドリア脳筋症（MELAS）の1症例

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-like Episodes: A case report—An analogy to cerebrovascular dementia

　抄録　37歳の時，けいれん発作で発症し，当初脳梗塞を疑われたMELAS（mitochondrial myopathy，encephalopathy，lactic acidosis and stroke-like episodes）の1例を報告した。

　低身長，頭痛，けいれん発作，失語や視空間失認などの巣症状からなる臨症床状と，頭部CTでの脳梗塞様の低吸収域，血中および髄液中の乳酸，ピルビン酸の高値，筋生検で観察されたragged-red fiberなどの検査所見よりMELASと診断され，coenzyme Q₁₀ idebenoneの大量投与療法が行われた。本例では上記の臨床症状に加えて，感情障害，痴呆，人格水準低下，意識障害など多彩な精神症状が観察された。

　We described a 37-year-old man with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). He had multiple symptoms of short stature, headache, jacksonian seizures, transcortical sensory aphasia, agraphia, acalculia, visual spacial agnosia, and a little muscle weakness. Brain CT revealed low-density areas that corresponded to the focal symptoms. Investigation estableished the presence of a mitochondrial myopathy with lactic and pyruvate acidemia. The patient's disorder was characterized, especially by various kinds of psychiatric symptoms, such as labile mood, emotional incontinence, mild deterioration of sentiment, deterioration of memory, dementia, and disturbance of consciousness, and fluctuation of the symptoms, analogous to cerebrovascular dementia.