性格変化が先行し，MRIにて中枢神経系に広範な病変を認めた中年発症のadrenoleukodystrophyの1例

A Middle-aged Case of Adrenoleukodystrophy with Preceding Personality Changes and Extensive MRI Lesfons in the Central Nervous System

　Adrenoleukodystrophy（ALD）は，遺伝性の脱髄性疾患で，脳・脊髄・末梢神経・副腎を侵し，生化学的には極長鎖脂肪酸が増加する。その臨床亜型に，O'Neillら^5）のいうadrenoleukomyelo-neuropathy（ALMN）がある。これはchildhood ALDとadrenomyeloneuropathy（AMN）の臨床症状を合わせ持ち，精神症状，痙性対麻痺を主症状とする緩徐進行性疾患をいう。今回，頭部CTで明らかな所見がないにもかかわらず頭部MRIでは広範な所見があり，副腎機能低下および赤血球膜の極長鎖脂肪酸分析などの検査結果と臨床経過によりALMNと考えられる，性格変化が先行した中年発症の症例を経験した。

　A 43-year-old man was hospitalized because of memory disturbance and gait disturbance. He had been a habitual drinker since 13 years previously, and personality changes gradually developed.

　On admission, alcoholic encephalopathy was suspected. However, he had spastic paraplegia and mental deterioration. T2-weighted MRI revealed abnormal high intensity areas in the occipital white matter surrounding the posterior horns of the lateral ventricles, the regions extending from the globus pallidus and internal capsule to the cerebral peduncle and pontine base, and the cerebellar white matter surrounding the dentate nucleus. Laboratory examinations showed adrenal insufficiency and abnormal very long chain fatty acid in erythrocyte membranes. Rectal biopsy disclosed characteristic inclusions. From these findings, he was diagnosed as having adrenoleukodystrophy (ALD). Furthermore, adrenoleukomyeloneuropathy (ALMN) as a clinical variant of ALD was suspected, since electromyography and sensory nerve conduction velocity and somatosensory evoked potential suggested the presence of peripheral neuropathy.

　It is unusual that, in this case, the brain CT did not show low density areas, although MRI revealed extensive lesions. In addition, no middleaged ALMN case with preceding long-period personality changes has been reported previously.