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尼曼-匹克氏病(Niemenn-pick disease,NPD)又名神经磷脂网状内皮细胞病,属常染色体隐性遗传代谢性疾病。1988年我院收治1例,现报告如下。患儿男,10岁。近一个月来右颞部出现阵发性剧痛,伴恶心、右侧肢体发麻,每日发作1～2次,每次持续数分钟至20分钟后自行缓解。外院曾以“颅内占位性病变”、“精神分裂症”、“癔病”,用卡马西平等治疗无效而转本院。体检:T36.8℃,神志清楚。皮肤巩膜无黄染,浅表淋巴结无肿大。心肺(-)。肝右肋下0.5cm,质软,无触痛,脾末触及。颅神经检查无异常,
Niemenn-pick disease (NPD), also known as neurotrophic reticuloendothelial disease, is an autosomal recessive metabolic disease. In our hospital in 1988 admitted to a case, are as follows. Children male, 10 years old. Nearly a month to the right temporal paroxysmal pain, with nausea, right limb numbness, attack 1 to 2 times a day, each lasting several minutes to 20 minutes after the self-remission. Outside the hospital had “intracranial space-occupying lesions”, “schizophrenia”, “hysteria”, with carbamazeputh treatment ineffective and transferred to hospital. Physical examination: T36.8 ℃, conscious. Skin sclera without yellow dye, superficial lymph nodes without swelling. Cardiopulmonary (-). Liver right rib 0.5cm, soft, no tenderness, touch the spleen. No abnormal cranial nerve examination,