Case Report: Nystagmus as a core presenting sign in pediatric anti-Ma2 antibody-associated cerebellar ataxia: diagnostic implications from clinical and serological profiling

Nystagmus was first identified in pediatric patients with anti-Ma2 antibody-associated syndrome, expanding clinicians' knowledge of the phenotype in children. Our case demonstrates that IVIG and steroids induced rapid and sustained remission despite presumed cell-mediated immunity cases, with complete symptom resolution within 8 weeks and no recurrence at 1-year follow-up. We also emphasize CBA's superior accessibility and its higher sensitivity and specificity in detecting low-titer antibodies for detecting antibodies in autoimmune encephalitis, particularly in mild or atypical presentations.

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Journal
Frontiers in Pediatrics
Published
2025-10-15
DOI
https://doi.org/10.3389/fped.2025.1659483
Primary Topic
Autoimmune Neurological Disorders and Treatments
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article
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article

Case Report: Nystagmus as a core presenting sign in pediatric anti-Ma2 antibody-associated cerebellar ataxia: diagnostic implications from clinical and serological profiling

Zhijian Li, Kaliadin Ni, Jiehui Ma, Ping Cao et al.
Frontiers in Pediatrics
Autoimmune Neurological Disorders and Treatments
article

Case Report: Nystagmus as a core presenting sign in pediatric anti-Ma2 antibody-associated cerebellar ataxia: diagnostic implications from clinical and serological profiling

Zhijian Li, Kaliadin Ni, Jiehui Ma, Ping Cao, Xiaofang Cai, Dan Sun, Yuting Yang, Qianqian Tan
article en

Abstract

Nystagmus was first identified in pediatric patients with anti-Ma2 antibody-associated syndrome, expanding clinicians' knowledge of the phenotype in children. Our case demonstrates that IVIG and steroids induced rapid and sustained remission despite presumed cell-mediated immunity cases, with complete symptom resolution within 8 weeks and no recurrence at 1-year follow-up. We also emphasize CBA's superior accessibility and its higher sensitivity and specificity in detecting low-titer antibodies for detecting antibodies in autoimmune encephalitis, particularly in mild or atypical presentations.

Frontiers in PediatricsVol. 13
Wuhan Municipal Engineering Design & Research Institute (CN), Wuhan Children's Hospital (CN), Wuhan YZY Biopharma (China) (CN), Huazhong University of Science and Technology (CN)
Openalex Percentile: Top 58%
Autoimmune Neurological Disorders and Treatments
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Case Report: Nystagmus as a core presenting sign in pediatric anti-Ma2 antibody-associated cerebellar ataxia: diagnostic implications from clinical and serological profiling — Zhijian Li, Kaliadin Ni, et al. · Frontiers in Pediatrics (2025) | TGRS Research Map | TGRS