Nasu-Hakola病(NHD)最早由Nasu等(1971)和Hakola(1972)报道，l又称为脂膜样多发性囊性骨发育不良(1ipomembranous1polycystic1osteodyspla-sia)、i膜性脂质营养不良(membranous1lipodystro-phy)，l为常染色体隐性遗传神经变性疾病，l迄今约报道l60余例，l男女均可发病，l呈全球分布，l以芬兰、i日本、i欧洲和非洲等地多见，l芬兰年发病率为2／10万。病人20岁出现腕、i踝部疼痛、i触痛，l骨折，l30～40岁出现早老性痴呆，l尚无有效治疗，l40岁死于肺部感染。

Hakola主要根据病程分期：i①潜伏期：i无症状。②骨性期：i20～30岁。可见腕踝部牵拉后疼痛和肿胀，l轻微外伤即可骨折。X线可见指骨、i掌／跗骨、i腕骨、i踝骨、i长骨骨骺端囊性疏松。囊肿充满胶胨样、i部分坏死的脂样物。骨骼受损症状轻微，l常在出现神经精神症状后才诊断。③神经精神期：i30～40岁。可见进行性痴呆，l额叶综合征，l记忆障碍，l欣快，l社会行为失控，l痉挛性下肢轻截瘫，l锥体外系症状，l肌阵挛或癫癎发作，l原始反射等。EEG可见同步化周期性和弥漫性6～8Hz活动α波可由无定形的θ、iσ波替代。其他如麻痹性肠梗阻、i巨结肠、i尿失禁、i阳瘘等罕见。视盘可见神经纤维层损害、i视神经萎缩或二者并存。④痴呆期：i35～45岁。常见恶病质、i癫癎发作。出现神经系统症状后平均病程为10年，l最后死于肺部感染。

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