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

VernacularTitle:尼曼匹克病C1型合并抗GQ1b抗体阳性1例
Author: Di LIAN ¹ ; Jing WU ; Ling LI
Author Information

1. 上海交通大学医学院附属新华医院儿神经内科，上海　200092
Keywords: Immunotherapy; Niemann-Pick disease type C; Anti-GQ1b antibody
From: Chinese Journal of Applied Clinical Pediatrics 2024;39(9):691-694
CountryChina
Language:Chinese
Abstract: 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.