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目的:报道一例B型尼曼-匹克病患者的病例资料,提高对该病的认识。方法:观察1例B型尼曼-匹克病患者的临床表现、骨髓涂片及骨髓活检结果,并进行相关的文献复习。结果:B型尼曼-匹克为自幼发病,无神经系统受损表现,伴有肝脾肿大、外周血三系降低,骨髓涂片及活检结果可见尼曼-匹克细胞。结论:尼曼-匹克病是一种罕见的鞘磷脂沉积性遗传性疾病,临床表现多样,骨髓、肝脾淋巴结病理及基因检测是确诊的关键方法,此病预后差,无特效治疗药物。
OBJECTIVE: To report a case of type B Niemann-Pick disease and to raise awareness of the disease. Methods: The clinical manifestations, bone marrow smears and bone marrow biopsy results of 1 patient with type B Niemann-Pick disease were observed and related literatures were reviewed. Results: B-type Niemann-Pick was an infancy onset with no neurological damage, accompanied by hepatosplenomegaly and peripheral blood three-way reduction. The results of bone marrow smear and biopsy showed Niemann-Pick cells. Conclusion: Niemann - Pick disease is a rare inherited sphingomyelosis genetic disease, clinical manifestations of various bone marrow, liver and spleen lymph node pathology and genetic testing is the key method of diagnosis, the prognosis is poor, no specific treatment drugs.