Krivitski David, Alcalay Yifat, Peer Michael, Paran Yael, Eisenstein Orna, Davidson Tima, Gadoth Avi
Department of Neurology, Tel Aviv Medical Center, Tel Aviv, 6243906, Israel.
Immunology Laboratory, Epilepsy Service Imaging Unit, Tel Aviv Medical Center, 6243906, Tel Aviv, Israel.
Neurol Sci. 2023 Jan;44(1):369-372. doi: 10.1007/s10072-022-06369-1. Epub 2022 Sep 16.
Paraneoplastic neurological syndromes have diverse clinical presentations and offer an opportunity for early diagnosis of malignancy and treatment. Recently, a new paraneoplastic syndrome associated with seminoma was described, consisting of rhombencephalitis with antibodies targeting the Kelch-like protein 11 (KLHL11). Questions were raised as to the spectrum of clinical symptoms and strength of association to seminoma.
We present a 45-year-old man with bilateral sensorineural hearing loss, vertigo, and progressive ataxia. An extensive diagnostic workup led to the diagnosis of anti-KLHL11 paraneoplastic syndrome based on an immunofluorescence assay showing a typical pattern and a confirmatory serological assay. As a result, the patient underwent a meticulous search for an underlying seminoma.
Although initially, all images were interpreted as negative, a revision of the positron emission tomography-CT (PET-CT) examination identified a small mediastinal suspicious mass. The mass was resected, and pathological examination confirmed it to be an extra-testicular seminoma.
Patients presenting with progressive sensorineural hearing loss, vertigo, and ataxia should be evaluated for KLHL11 paraneoplastic syndrome. Furthermore, we support a strong association between anti-KLH11 rhombencephalitis and an underlying seminoma and recommend a thorough search for an undiagnosed germ cell tumor in these patients.
副肿瘤性神经系统综合征临床表现多样，为恶性肿瘤的早期诊断和治疗提供了契机。最近，一种与精原细胞瘤相关的新型副肿瘤综合征被描述，其特征为伴有靶向 Kelch 样蛋白 11（KLHL11）抗体的菱形脑炎。关于其临床症状谱以及与精原细胞瘤的关联强度引发了诸多疑问。
我们报告一名 45 岁男性，患有双侧感音神经性听力损失、眩晕和进行性共济失调。经过广泛的诊断性检查，基于免疫荧光检测显示典型模式及确诊性血清学检测，诊断为抗 KLHL11 副肿瘤综合征。因此，对该患者进行了细致的潜在精原细胞瘤排查。
尽管最初所有影像检查结果均判为阴性，但对正电子发射断层扫描 - CT（PET - CT）检查结果的复查发现了一个纵隔小的可疑肿块。该肿块被切除，病理检查证实为睾丸外精原细胞瘤。
对于出现进行性感音神经性听力损失、眩晕和共济失调的患者，应评估是否患有 KLHL11 副肿瘤综合征。此外，我们支持抗 KLH11 菱形脑炎与潜在精原细胞瘤之间存在密切关联，并建议对这些患者彻底排查未诊断出的生殖细胞肿瘤。
