METHODS: A 76-year-old man initially presented with slurred speech and limb tremors, followed by epileptic-like seizures, lethargy, and sleep apnea. IgG anti-IgLON5 antibodies were positive in both serum and cerebrospinal fluid. The patient responded well to the treatment of plasma exchange and a pulse and gradual reduction of steroids therapy. When the oral steroids started, mycophenolate mofetil was added. Two months later, the patient had bloody stools and pathological-confirmed moderately differentiated adenocarcinoma of the rectum.
CONCLUSIONS: Whereas sleep disturbance is the most common feature in patients with anti-IgLON5 disease, our case presented with slurred speech and limb tremors. Anti-IgLON5 disease complicated with rectal cancer is very rare. Tumor screening should be considered in patients with anti-IgLON5 disease to investigate the association between tumor and this disease.
方法:一名76岁的男子最初表现为言语不清和肢体震颤,接着是癫痫样发作,嗜睡,和睡眠呼吸暂停。IgG抗IgLON5抗体在血清和脑脊液中均呈阳性。患者对血浆置换治疗和类固醇治疗的脉冲和逐渐减少反应良好。当口服类固醇开始时,加入霉酚酸酯。两个月后,患者出现血便和病理证实的直肠中分化腺癌.
结论:尽管睡眠障碍是抗IgLON5病患者最常见的特征,我们的病例表现为言语不清和肢体震颤。抗IgLON5病并发直肠癌非常罕见。在患有抗IgLON5疾病的患者中,应考虑进行肿瘤筛查,以研究肿瘤与该疾病之间的关系。