Table 1_Neuronal intranuclear inclusion disease with initial manifestation of intractable nausea and vomiting responsive to corticosteroids: a case report.docx

Neuronal intranuclear inclusion disease (NIID) can initially present with gastrointestinal symptoms as the sole or primary manifestation for decades before neurological signs emerge. We report the case of a 61-year-old woman with a 22-year history of drug-refractory, recurrent nausea and vomiting. Previous extensive gastrointestinal evaluations were unremarkable, and conventional therapies proved ineffective. The diagnosis of NIID was established on the basis of the following key findings: diffusion-weighted imaging revealed a characteristic “crown-like” hyperintensity at the corticomedullary junction; genetic analysis revealed a GGC repeat expansion in the NOTCH2NLC gene, with no abnormalities detected in FMR1; and skin biopsy demonstrated p62-positive intranuclear inclusions within sweat gland cells. The patient’s symptoms improved markedly with corticosteroid therapy but recurred upon repeated withdrawal. Subsequent initiation of a maintenance corticosteroid regimen resulted in sustained clinical stability, with only occasional mild symptom fluctuations over a six-month follow-up period. This case highlights that vomiting can be a prominent and early clinical feature of NIID. The condition should be considered in the differential diagnosis of patients with unexplained, refractory nausea and vomiting, for whom long-term corticosteroid therapy may represent a viable treatment strategy.

神经元核内包涵体病（Neuronal intranuclear inclusion disease, NIID）可在出现神经体征前数十年，仅以胃肠道症状作为唯一或主要临床表现。本文报告1例61岁女性患者，其存在22年药物难治性复发性恶心呕吐病史。此前全面的胃肠道检查未发现异常，常规治疗亦无效。基于以下关键发现确诊NIID：弥散加权成像显示皮髓质交界处存在特征性“冠状”高信号；基因分析检出NOTCH2NLC基因存在GGC重复扩增，且FMR1基因未检测到异常；皮肤活检可见汗腺细胞内存在p62阳性核内包涵体。患者经糖皮质激素治疗后症状显著改善，但反复停药后症状复发。后续启动糖皮质激素维持治疗方案，患者临床状态持续稳定，6个月随访期间仅偶有轻微症状波动。本病例提示，呕吐可作为NIID的突出早期临床表现。对于病因不明的难治性恶心呕吐患者，应将NIID纳入鉴别诊断范畴，而长期糖皮质激素治疗或为可行的治疗策略。