Simões Rita Gonçalves, Maia Helena
Department of Internal Medicine, Centro Hospitalar Entre Douro e Vouga, Santa Maria da Feira, Portugal.
BMJ Case Rep. 2015 Feb 5;2015:bcr2014208286. doi: 10.1136/bcr-2014-208286.
Niemann-Pick disease (NPD) is a rare group of autosomal recessive disorders associated with intracellular deposition of sphingomyelin. NPD type B is a milder form, generally later in onset, with a good prognosis for survival into adulthood and usually with no neurological abnormalities. The authors describe the case of a 52-year-old man who presented with unexplained pancytopenia and splenomegaly. He was admitted to emergency splenectomy due to pathological splenic rupture. The histological findings showed diffuse histiocytosis, suggesting lysosomal storage disease. The NPD was confirmed when residual activity of acid sphingomyelinase in peripheral blood leucocytes and cultured skin fibroblasts was detected. Besides lipid abnormalities, the patient also had lipid interstitial pneumonia. There is no treatment for NPD. Management is based on surveillance and supportive care. The patient has reached the sixth decade of life with no symptoms and, despite the pneumonia and splenectomy, he still has a fairly healthy life.
尼曼-匹克病（NPD）是一组罕见的常染色体隐性疾病，与鞘磷脂在细胞内沉积有关。B型尼曼-匹克病症状较轻，通常发病较晚，成年后存活预后良好，通常无神经学异常。作者描述了一名52岁男性的病例，该患者出现不明原因的全血细胞减少和脾肿大。因病理性脾破裂，他接受了急诊脾切除术。组织学检查结果显示弥漫性组织细胞增多症，提示溶酶体贮积病。当检测到外周血白细胞和培养的皮肤成纤维细胞中酸性鞘磷脂酶的残余活性时，尼曼-匹克病得到确诊。除脂质异常外，该患者还患有脂质间质性肺炎。尼曼-匹克病尚无治疗方法。治疗以监测和支持治疗为主。该患者已步入花甲之年，没有症状，尽管患有肺炎且接受了脾切除术，但他仍过着相当健康的生活。
