Longstreth W T, Daven J R, Farrell D F, Bolen J W, Bird T D
Neurology. 1982 Nov;32(11):1295-9. doi: 10.1212/wnl.32.11.1295.
A 43-year-old man presented with splenomegaly and a 20-year history of a neurologic disorder that included vertical supranuclear ophthalmoplegia, mild dementia, and a movement disorder. Adult dystonic lipidosis was diagnosed from the clinical picture and demonstration of foamy and sea-blue histiocytes in bone marrow. Ultrastructural patterns in cytolysosomes suggested accumulation of neutral fat and phospholipids. Liver content of bis-(monoacylglycerol) phosphate was increased, probably because the number of lysosomes had increased. Sphingomyelinase activity was normal in cultured skin fibroblasts. Juvenile and adult dystonic lipidosis form a clinically, histologically, and biochemically distinct neurovisceral storage disease that differs from Niemann-Pick disease.
一名43岁男性，出现脾肿大，并有20年神经系统疾病史，包括垂直性核上性眼肌麻痹、轻度痴呆和运动障碍。根据临床表现以及骨髓中泡沫状和海蓝色组织细胞的表现，诊断为成人肌张力障碍性脂质沉积症。细胞溶酶体的超微结构模式提示中性脂肪和磷脂的蓄积。双（单酰甘油）磷酸酯的肝脏含量增加，可能是因为溶酶体数量增多。培养的皮肤成纤维细胞中鞘磷脂酶活性正常。青少年和成人肌张力障碍性脂质沉积症形成一种在临床、组织学和生化方面都不同的神经内脏贮积病，与尼曼-匹克病不同。
