Shirai Harumi, Saito-Sato Naoko, Horiuchi Emiko, Kikuchi Hirotoshi, Kadowaki Saori, Ohnishi Hidenori, Suzuki Takeshi
Department of Rheumatology & Allergology, Japanese Red Cross Medical Center, Tokyo, Japan.
Department of Neurology, Japanese Red Cross Medical Center, Tokyo, Japan.
Front Immunol. 2025 Jan 7;15:1508307. doi: 10.3389/fimmu.2024.1508307. eCollection 2024.
Patients with A20 haploinsufficiency (HA20) presenting with central nervous system (CNS) symptoms are rare, and available reports are limited. Here, we describe a patient with HA20, previously followed up as Behçet disease, who presented with CNS symptoms in adulthood. A 38-year-old Japanese male who had been followed up for incomplete Behçet disease at another hospital since 28 years of age presented to our hospital with acute-onset diplopia and persistent hiccups that were severe enough to cause vomiting. Despite suspicion of neuro-Behçet disease on the basis of the patient's medical history, a definitive diagnosis could not be made. He experienced transient episodes of diplopia over a short period, and brain magnetic resonance imaging T2 fluid-attenuated inversion recovery images revealed nonspecific hyperintensities in the cerebral white matter. He was initially managed with low-dose prednisolone and colchicine but continued to experience low-grade fever, recurrent oral ulcers, and genital ulcers. A gene panel test for periodic fever syndromes revealed a variant in the gene, showing a c.259C>T nonsense variant. As previous reports have described the same variant in patients with HA20, the patient was diagnosed with HA20. The patient's response to glucocorticoids and colchicine therapy was limited, and his symptoms improved upon initiation of tumor necrosis factor-α inhibitor therapy. The variant showing a c.259C>T nonsense variant in the gene has been previously reported in China and France, making this the first report in Japan, which is considered a rare instance of HA20 with CNS involvement.
患有A20单倍体不足（HA20）并出现中枢神经系统（CNS）症状的患者很罕见，现有报告有限。在此，我们描述一名患有HA20的患者，该患者先前被诊断为白塞病并接受随访，成年后出现了CNS症状。一名38岁的日本男性，自28岁起在另一家医院因不完全性白塞病接受随访，现因急性发作的复视和持续性呃逆前来我院就诊，呃逆严重到足以引起呕吐。尽管根据患者病史怀疑为神经白塞病，但无法做出明确诊断。他在短时间内经历了短暂的复视发作，脑部磁共振成像T2液体衰减反转恢复图像显示脑白质有非特异性高信号。他最初接受低剂量泼尼松龙和秋水仙碱治疗，但仍持续低热、反复出现口腔溃疡和生殖器溃疡。一项针对周期性发热综合征的基因检测显示该基因存在一个变异，表现为c.259C>T无义变异。由于先前的报告已描述HA20患者存在相同变异，该患者被诊断为HA20。患者对糖皮质激素和秋水仙碱治疗反应有限，开始使用肿瘤坏死因子-α抑制剂治疗后症状有所改善。该基因中显示c.259C>T无义变异的情况先前在中国和法国有过报道，这是日本的首例报告，被认为是HA20累及CNS的罕见病例。
