NPC1突变致以弥漫肺间质改变为首发表现的尼曼匹克病C型1例  

Case report on Niemann-Pick disease type C with diffuse interstitial lung disease as the initial manifestation due to NPC1 gene mutation

作　　者：郭思远 刘军[1] 贺建新[1] 徐保平[1] Guo Siyuan;Liu Jun;He Jianxin;Xu Baoping(Department of Respiratory Medicine,Beijing Children′s Hospital,Capital Medical University,Beijing 100045,China)

机构地区：[1]首都医科大学附属北京儿童医院呼吸中心,北京100045

出　　处：《中华实用儿科临床杂志》2024年第12期940-942,共3页Chinese Journal of Applied Clinical Pediatrics

摘　　要：回顾性分析2017年12月22日在首都医科大学附属北京儿童医院确诊的1例尼曼匹克病C型患儿的临床资料。患儿,男,1岁28 d,主因"间断发热、咳喘8个月,发现肝脾大20 d"入院。患儿以咳嗽、咳痰、喘息起病,随后出现肌张力减低,运动发育落后,1岁出现肝脾大,双肺弥漫间质改变。3岁出现明显的垂直性核上性凝视麻痹和痴笑猝倒发作,随后出现构音及吞咽困难等表现。骨髓细胞学找到泡沫细胞,查鞘磷脂酶、葡糖脑苷酯酶均正常,除外尼曼匹克病A/B型及戈谢病,基因检测发现NPC1基因2个致病性突变,确诊尼曼匹克病C型。患儿3岁开始应用麦格司他治疗,垂直性核上性凝视麻痹及痴笑猝倒曾一度改善,但此后神经系统症状再次加重,并出现吞咽困难,呼吸困难亦逐渐加重,于4岁11个月死亡。The clinical data of a case of Niemann-Pick disease type C diagnosed at Beijing Children′s Hospital,Capital Medical University on December 22,2017 were retrospectively analyzed.The patient,male,1 year and 28 days old,was admitted to the hospital primarily due to intermittent fever,cough and dyspnea for 8 months,and hepatosplenomegaly for 20 days.The patient initially presented with cough,expectoration,and wheezing,followed by hypotonia and delayed motor development.At the age of 1 year,the child developed hepatosplenomegaly and diffuse interstitial changes in both lungs.At the age of 3 years,the child had obvious vertical supranuclear gaze palsy and gelastic cataplexy,followed by dysarthria and dysphagia.The foam cells were found by bone marrow cytology,while sphingomyelinase and glucocerebrosidase were normal,so Niemann-Pick disease type A/B and Gaucher disease were excluded.Finally,genetic testing revealed two pathogenic mutations in the NPC1 gene,so Niemann-Pick disease type C was confirmed.Miglustat treatment began when the child was 3 years old,and vertical supranuclear gaze palsy and gelastic cataplexy improved for a while,but then the neurological symptoms worsened again,with dysphagia and dyspnea gradually increasing,and finally he died at the age of 4 years and 11 months.

关 键 词：尼曼匹克病 胆固醇转运障碍 间质性肺疾病 麦格司他 

分 类 号：R725.9[医药卫生—儿科]