成人型Metachromatic Leukodystrophy

Adult metachromatic leukodystrophy (Adult MLD) Report of a case with progressive dementia, character change and convulsive seizures. Review or 39 reported cases.

　痴呆を主症状とする疾患は多く^1），その臨床診断はしばしば困難とされる。成人型metachromatic lcukodystrophy（adult MLD）はその一つであり，また本症は発症年齢により少なくとも3型（late-infantile，juvenile，adult）に分類される先天性代謝異常症metachromaticleukodystrophyの一型でもある^2,3）。本稿では，本症の臨床診断例の報告と文献的考察を行なう。

　A male case of adult MLD was presented. The diagnosis of MLD was established by chemical and biochemical studies of urine and leukocytes. This is the tenth and the first documented case of clinically diagnosed adult MLD from the world and Japan, respectively.

　This 35-year-old fireman was the product of normal pregnancy and delivery and showed no abnormalities in early behavioral or intellectual development. There was no family history of neurologic disease. Following graduation from high school, he worked as a fireman. At about the age of twenty, he became a heavy drinker.