Ashwal S, Thrasher T V, Rice D R, Wenger D A
Ann Neurol. 1984 Aug;16(2):184-92. doi: 10.1002/ana.410160205.
A 15-year-old girl evidenced a slowly progressive central nervous system degenerative disorder. The illness had begun and progressed between ages 1 and 12 years, with ataxia, spasticity, choreoathetosis, early-onset seizures (which later ceased), and mild retardation. At age 13 she had developed rapidly progressive generalized weakness and atrophy, indicating peripheral nervous system involvement. Laboratory investigation revealed the presence of sea-blue histiocytes in the bone marrow without evidence of a disorder of sphingolipid metabolism or neuronal ceroid lipofuscinosis. Muscle biopsy showed large- and small-group atrophy, and sural nerve biopsy demonstrated axonal degeneration. This patient's illness appears to be a hitherto undescribed form of "sea-blue histiocytosis" associated with neurological dysfunction in children.
一名15岁女孩患有一种缓慢进展的中枢神经系统退行性疾病。该疾病始于1岁至12岁之间，并逐渐发展，伴有共济失调、痉挛、舞蹈手足徐动症、早发性癫痫（后来停止发作）和轻度智力发育迟缓。13岁时，她出现了快速进展的全身无力和萎缩，提示外周神经系统受累。实验室检查发现骨髓中有海蓝色组织细胞，但没有鞘脂代谢紊乱或神经元蜡样脂褐质沉积症的证据。肌肉活检显示大小组萎缩，腓肠神经活检显示轴突变性。该患者的疾病似乎是一种迄今未被描述的与儿童神经功能障碍相关的“海蓝色组织细胞增生症”形式。
