The Affiliated Changsha Central Hospital, Department of Pediatrics, Hengyang Medical School,University of South China, Changsha, China.
BMC Neurol. 2023 Apr 27;23(1):170. doi: 10.1186/s12883-023-03213-7.
Anti-GQ1b antibody syndrome is a rare autoimmune neuropathy, and atypical cases are even more rare, only a few cases have been reported. Anti-GQ1b antibody syndrome is difficult in early diagnosis and prone to misdiagnosis. Generally,in children with anti-GQ1b antibody syndrome,extraocular muscle paralysis is the initial symptom. However, anti-GQ1b antibody syndrome with vomiting as the initial symptom followed by abnormal gait has not been reported.
We reported a case of anti-GQ1b antibody syndrome with vomiting as the initial symptom, followed by abnormal gait. One day after vomiting, the child developed abnormal gait, which primarily manifested as a slight tilt of the upper body during walking as well as an opening and swaying of the legs at fast walking paces,then progressively aggravated, and finally he could not stand on his own.In the auxiliary examination, cerebrospinal fluid routine,biochemical and metagenomic Next-Generation Sequencing (DNA and RNA), brain + spinal cord contrast magnetic resonance imaging (MRI),magnetic Resonance angiography (MRA) and diffusion-weighted image (DWI), hip and knee joint ultrasound showed normal results. Anti-GQ1b antibody syndrome was not confirmed until the positive anti-GQ1b IgG antibody was detected in the serum. After treatment with intravenous immunoglobulin (IVIG) and glucocorticoid, the child recovered well, and a 3-month outpatient follow-up showed that the child was able to walk normally.
There are no previous reports of anti-GQ1b antibody syndrome with vomiting as the initial symptom, followed by abnormal gait. Therefore, this valuable case contributes to expanding the database of clinical manifestation of anti-GQ1b antibody syndrome, so as to improve pediatricians' awareness about such rare diseases and reduce misdiagnosis.
抗-GQ1b 抗体综合征是一种罕见的自身免疫性神经病,而不典型病例则更为罕见,仅有少数病例报道。抗-GQ1b 抗体综合征在早期诊断较为困难,且易于误诊。一般来说,儿童抗-GQ1b 抗体综合征以眼外肌麻痹为首发症状。然而,以呕吐为首发症状,继以步态异常为表现的抗-GQ1b 抗体综合征尚未见报道。
我们报道了一例以呕吐为首发症状,继以步态异常为表现的抗-GQ1b 抗体综合征。患儿呕吐后第 1 天出现步态异常,主要表现为行走时上身轻度倾斜,双腿快速行走时张开摇晃,逐渐加重,最终无法站立。辅助检查脑脊液常规、生化及宏基因组下一代测序(DNA 和 RNA)、脑+脊髓对比磁共振成像(MRI)、磁共振血管造影(MRA)和弥散加权成像(DWI)、髋关节和膝关节超声均未见异常。血清中检测到抗-GQ1b IgG 抗体阳性,才确诊为抗-GQ1b 抗体综合征。经静脉注射免疫球蛋白(IVIG)和糖皮质激素治疗后,患儿恢复良好,3 个月门诊随访时患儿已能正常行走。
以呕吐为首发症状,继以步态异常为表现的抗-GQ1b 抗体综合征尚无既往报道。因此,这一有价值的病例有助于扩大抗-GQ1b 抗体综合征临床表现的数据库,从而提高儿科医生对这类罕见疾病的认识,减少误诊。