Wakida Kenji, Matsuyama Zenjiro, Suzuki Yasuyuki, Sawada Michio, Tsurumi Hisashi, Kimura Akio, Hayashi Yuichi, Hashizume Tatsuma, Hozumi Isao, Inuzuka Takashi
Department of Neurology and Geriatrics, Gifu University Graduate School of Medicine, 1-1 Yanagido, Gifu-shi, Gifu 501-1194, Japan.
No To Shinkei. 2004 Dec;56(12):1047-53.
Niemann-Pick disease, type C (NPC) is a neurometabolic genetic disorder that is distinguished from other types of Niemann-Pick disease by its later onset, more insidious progression, variable visceromegaly, and abnormalities of intracellular cholesterol metabolism. We report cases in 18-year-old and 20-year-old brothers who presented with disinhibition and involuntary movement of their hands. Both brothers presented various signs such as dementia, vertical supranuclear ophthalmoplegia (VSO), dysarthria, axial and limb dystonia, hyperreflexia, pathologic reflex, cerebellar ataxia, as reported. They also presented startle response. Brain MRI showed diffuse cerebral atrophy and abdominal CT reveals hepato-splenomegaly in both patients. These cases were suspected to be NPC based on dementia, VSO, cerebellar ataxia, hepato-splenomegaly and foam cells in the bone marrow. Generally, the diagnosis of NPC is based on deficient cholesterol esterification and excessive lysosomal filipin staining in cultured skin fibroblasts. However, culture of fibroblasts obtained from a biopsied skin samples is slow. We have rapidly made the diagnosis of NPC in our patients by filipin staining of foam cells from bone marrow. This diagnostic process using a bone marrow smear is more convenient and rapid than previous methods using cultured skin fibroblasts.
C型尼曼-匹克病（NPC）是一种神经代谢性遗传疾病，它与其他类型的尼曼-匹克病的区别在于起病较晚、进展更为隐匿、内脏肿大情况不一以及细胞内胆固醇代谢异常。我们报告了两例病例，患者为18岁和20岁的兄弟，他们表现出手部抑制障碍和不自主运动。正如所报道的，两兄弟均出现了各种体征，如痴呆、垂直性核上性眼肌麻痹（VSO）、构音障碍、轴向和肢体肌张力障碍、反射亢进、病理反射、小脑共济失调。他们还表现出惊吓反应。脑部MRI显示弥漫性脑萎缩，腹部CT显示两名患者均有肝脾肿大。基于痴呆、VSO、小脑共济失调、肝脾肿大以及骨髓中的泡沫细胞，这些病例被怀疑为NPC。一般来说，NPC的诊断基于培养的皮肤成纤维细胞中胆固醇酯化不足和溶酶体荧光素染色过度。然而，从活检皮肤样本中获取的成纤维细胞培养速度较慢。我们通过对骨髓中的泡沫细胞进行荧光素染色，迅速对我们的患者做出了NPC诊断。这种使用骨髓涂片的诊断过程比以前使用培养的皮肤成纤维细胞的方法更方便、快捷。
