尼曼匹克病C1型合并抗GQ1b抗体阳性1例

One case of Niemann-Pick disease type C1 combined with anti-GQ1b antibody positive

回顾性分析2022年2月在上海交通大学医学院附属新华医院儿神经内科确诊的1例尼曼匹克病C1型合并抗GQ1b抗体阳性患儿的临床资料。患儿,男,7岁,因"步态异常伴言语模糊、学习能力下降2年余"就诊入院,主要表现为行走步态姿势不协调,走路易摔倒,并逐渐出现学习能力下降、言语含糊、语速减慢,通过全外显子测序及骨髓穿刺明确诊断为尼曼匹克病C1型。此外,该患儿血中合并抗GQ1b抗体阳性,且通过免疫治疗患儿有一定程度的恢复,提示在尼曼匹克病C型中可能合并一定的免疫反应,而免疫治疗可能会改善患儿的部分症状,从而为该病的临床诊疗及后续治疗研究提供新的方向。

A case of clinical data of a boy diagnosed as Niemann-Pick disease type C1 combined with anti-GQ1b antibody positive at the Department of Pediatric Neurology,Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine in February 2022 was analyzed retrospectively.The boy was 7 years old,admitted to the hospital because of the"abnormal gait and fuzzy words,and the learning ability decreased for more than 2 years".The boy mainly manifested as the walking gait posture not harmonious,easy to fall down,and gradually declined in learning ability,vague words and slow speaking speed,which was clearly diagnosed with whole exome sequencing and bone marrow puncture as Niemann-Pick disease type C1.In addition,the boy′s blood test combined with anti-GQ1b antibody positive,and had a certain degree of recovery through immunotherapy,prompting that a certain immune response may paticipate in Niemann-Pick disease type C.And immunotherapy may improve some symptoms in children,which may provide new direction for the clinical diagnosis and treatment of the disease.