Saibaba Jayaram, Selvaraj Jayachandran, Viswanathan Stalin, Pillai Vivekanandan
Department of Neurology, Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, India.
Department of General Medicine, Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, India.
Ochsner J. 2025 Spring;25(1):50-53. doi: 10.31486/toj.24.0056.
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a rare, progressive, neurodegenerative disorder characterized by late-onset ataxia, bilateral vestibular impairment, and sensory neuropathy.
A 51-year-old male presented to the hospital with worsening dizziness, tremulousness of limbs, and falls during the preceding year. The patient experienced gradually progressive sensorimotor lower motor neuron quadriparesis, asymmetric ataxia, chronic pancerebellar dysfunction, oscillopsia, and impaired vestibulo-ocular reflex. His comorbidities included poorly controlled type 2 diabetes mellitus, chronic alcohol use, and thalidomide therapy for polycythemia vera with myelofibrosis. Diagnostic workup revealed sensory axonal neuropathy, hypercellular bone marrow with myelofibrosis, and utriculo-saccular dysfunction. Diabetes and thalidomide- and alcohol-related complications were presumed to be the reason for the patient's symptoms, but investigations revealed a diagnosis of CANVAS coexisting with polycythemia vera. The patient was treated with rehabilitation exercises and medications that slightly improved but did not resolve his symptoms. More than 1 year after the patient's last follow-up, a physician at another hospital discontinued the thalidomide prescription because of the patient's neuropathy. Two months later, the patient developed febrile neutropenia and died of pneumonia and sepsis.
To our knowledge, CANVAS coexisting with polycythemia vera has only been reported once in the literature. The significance of this coexistence is not clear. Future case studies may help elucidate a link between these two entities.
小脑性共济失调伴神经病变和双侧前庭无反射综合征（CANVAS）是一种罕见的、进行性的神经退行性疾病，其特征为迟发性共济失调、双侧前庭功能障碍和感觉神经病变。
一名51岁男性因前一年头晕加重、肢体震颤和跌倒前来就诊。患者出现逐渐进展的感觉运动性下运动神经元四肢瘫、不对称性共济失调、慢性全小脑功能障碍、视振荡和前庭眼反射受损。他的合并症包括控制不佳的2型糖尿病、长期饮酒以及因真性红细胞增多症合并骨髓纤维化而接受沙利度胺治疗。诊断检查发现感觉轴索性神经病变、骨髓细胞增多伴骨髓纤维化以及椭圆囊球囊功能障碍。糖尿病以及与沙利度胺和酒精相关的并发症被认为是患者症状的原因，但检查发现患者诊断为CANVAS合并真性红细胞增多症。患者接受了康复锻炼和药物治疗，症状略有改善但未完全缓解。患者最后一次随访1年多后，另一家医院的医生因患者的神经病变停用了沙利度胺处方。两个月后，患者发生发热性中性粒细胞减少症，死于肺炎和败血症。
据我们所知，CANVAS合并真性红细胞增多症在文献中仅被报道过一次。这种共存的意义尚不清楚。未来的病例研究可能有助于阐明这两种疾病之间的联系。
