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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 analyze the clinical characteristics, diagnosis and treatment of C-type Nehmann-Pick disease (NPC). Methods The clinical manifestations, laboratory data and treatment of 4 NPC patients admitted to Xiangya Hospital of Central South University from January 2006 to April 2010 were summarized. Results 4 cases onset age of 6 months to 10 years old. The first symptom of gait instability in 2 cases, 1 case of unclear articulation, splenomegaly in 1 case. When the main symptoms of visceral involvement and extrapyramidal symptoms. Bone marrow cytology found that there were 2 cases of typical Niemann-Pick cells and sea-blue cells. 4 cases were given low-fat diet, multivitamins and other supportive treatment, 2 cases were given antiepileptic treatment. Follow-up from 1 month to 4 years, 1 case died, and 3 cases of mental motor development is still backward. Conclusion NPC is a fatal autosomal recessive disease with clinical manifestations of hepatosplenomegaly, ataxia, neurodegeneration and brain stem dysfunction. The disease is currently no specific treatment, early treatment of Miglustat can delay the appearance of neurological symptoms, prolong life.