C型尼曼-匹克病4例临床分析

Clinical analysis of 4 case of Niemann-Pick disease type C

目的分析C型尼曼-匹克病(NPC)临床特征、诊断及治疗方法。方法总结中南大学湘雅医院2006年1月至2010年4月收治的4例NPC患儿的临床表现、实验室资料及治疗情况。结果 4例起病年龄6个月至10岁。首发症状为步态不稳2例,吐字不清1例,脾大1例。就诊时主要症状为内脏受累和锥体外系症状。骨髓细胞学检查发现典型尼曼-匹克细胞和海蓝细胞各2例。4例均予低脂饮食、多种维生素等支持治疗,2例给予抗癫痫治疗。随访1个月至4年,1例死亡,3例智力运动发育仍在倒退。结论 NPC是一种致死性常染色体隐性遗传病,临床表现为肝脾大、共济失调、神经退行性改变和脑干功能损害。本病目前尚无特效治疗,美格鲁特(Miglustat)早期治疗可延缓神经系统症状的出现时间、延长寿命。

Objective To summarize and analyze the clinical features, diagnostic approaches and treatment of Niemann-Piek disease type C （NPC） in children. Methods Data of 4 cases of NPC children being followed up from 2006 to 2010 in Xiangya Hospital, Central South University were collected and analyzed. Results Among the 4 cases, age of onset of clinical signs ranged from 6 months to 10 years. The primary symptoms were instability of gait, alalia, and splenomegaly. Clinical features included visceral signs, conical signs and extrapyramidal signs. Brain stem signs included vertical supranuelear ophthalmoplegia （3 cases） , dysarthria （3 cases） , and dysphagia （2 cases）. Bone marrow biopsy showed Niemann-Piek cells （2 cases） and sea-blue histioeytes （2 cases ）.Brain MRI showed either normal （2 cases） or mild encephalatrophy （2 eases）.The EEG presented abnormal in 4 eases which showed slow background activity. Epileptiform discharges were found in 3 cases of the patients. Activity of acid sphingomyelinase was performed in 2 cases, and the results were normal.Four patients were given low-fat diet and mixed vitamin.Two patients receiving antiepileptie drugs treatment did not show significant improvement. The follow-up ranged from 1 month to 4 years.One patient died, and three patients showed retrogressive mental and motor development with brain stem signs.Conclusion NPC is a fatal autosomal recessive disorder. Clinical features are hepatosplenomegaly, ataxia, neurodegenerative changes and brain stem dysfunction. Until recently, there has been no available disease-specific therapies for NPC.Miglustat is available to stabilize the disease course and prolongs lifespan.