Shen Dongchao, Zhang Zhe, Guan Hongzhi, You Yan, Chang Long, Cao Xinxin
Departments of Neurology, Peking Union Medical College Hospital, Beijing, China.
Departments of Pathology, Peking Union Medical College Hospital, Beijing, China; and.
Neurology. 2025 Jun 24;104(12):e213729. doi: 10.1212/WNL.0000000000213729. Epub 2025 May 22.
We report a 59-year-old man with a progressively deteriorating neurologic presentation characterized by dysarthria and gait instability. Neurologic examination revealed pseudobulbar palsy, cerebellar ataxia, and pyramidal signs. Neuroimaging demonstrated irregular brainstem and cerebellar lesions with minimal mass effect and partial enhancement. Bilateral heel swelling, an uncommon clinical presentation, prompted further diagnostic evaluation. This case highlights the importance of a systematic reasoning approach, emphasizing the differential diagnosis, further investigative modalities, and treatment options for this rare condition, with particular attention to potential multisystem involvement.
我们报告了一名59岁男性,其神经系统表现逐渐恶化,特征为构音障碍和步态不稳。神经系统检查发现假性延髓麻痹、小脑共济失调和锥体束征。神经影像学显示脑干和小脑有不规则病变,占位效应最小且有部分强化。双侧足跟肿胀,这是一种不常见的临床表现,促使进行进一步的诊断评估。该病例强调了系统推理方法的重要性,着重介绍了这种罕见疾病的鉴别诊断、进一步的检查方式和治疗选择,尤其要关注潜在的多系统受累情况。