Zis Panagiotis, Rao Dasappaiah Ganesh, Wagner Bart E, Nicholson-Goult Lucinda, Hoggard Nigel, Hadjivassiliou Marios
Academic Department of Neurosciences, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK ; University of Sheffield, Royal Hallamshire Hospital, Royal Hallamshire Hospital, Glossop Rd, Sheffield, South Yorkshire S10 2JF UK.
Academic Department of Neurosciences, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK.
Cerebellum Ataxias. 2017 Jan 5;4:1. doi: 10.1186/s40673-016-0060-4. eCollection 2017.
Cerebellar ataxia with sensory ganglionopathy is a rare neurological combination that can occur in some hereditary ataxias including mitochondrial diseases and in gluten sensitivity. Individually each condition can be a classic paraneoplastic neurological syndrome. We report a patient with this combination who was diagnosed with light-chain myeloma ten years after initial presentation.
A 65-year-old Caucasian lady was referred to our Ataxia Clinic because of a 6-year history of progressive unsteadiness and a 2-year history of slurred speech. Past medical history included arterial hypertension. The patient was a non-smoker was not consuming alcohol excessively. There was no family history of ataxia. Neurological examination revealed prominent gaze-evoked nystagmus, heel to shin ataxia, gait ataxia, reduced reflexes and loss of vibration sensation in the legs. Cerebellar ataxia was confirmed using magnetic resonance spectroscopy of the cerebellum and sensory ganglionopathy using neurophysiological assessments including blink reflex study. A muscle biopsy that was arranged to explore the possibility of mitochondrial disease revealed amyloidosis. Urinalysis confirmed the presence of light chains. A bone marrow biopsy confirmed the diagnosis of light chain multiple myeloma.
Whilst it could be argued that this could simply be a coincidence, the rarity of these conditions and the absence of an alternative aetiology for the neurological dysfunction argue in favour of a paraneoplastic phenomenon.
小脑共济失调伴感觉神经节病是一种罕见的神经学组合，可发生于某些遗传性共济失调，包括线粒体疾病以及麸质敏感性疾病。单独来看，每种情况都可能是典型的副肿瘤性神经综合征。我们报告一名患者，在首次出现症状十年后被诊断为轻链骨髓瘤，其患有这种组合病症。
一名65岁的白人女性因6年进行性步态不稳病史和2年言语不清病史被转诊至我们的共济失调诊所。既往病史包括动脉高血压。患者不吸烟，不过度饮酒。无共济失调家族史。神经系统检查发现明显的凝视诱发性眼球震颤、跟膝胫试验共济失调、步态共济失调、反射减弱以及双下肢振动觉丧失。通过小脑磁共振波谱证实存在小脑共济失调，通过包括瞬目反射研究在内的神经生理学评估证实存在感觉神经节病。为探究线粒体疾病可能性而安排的肌肉活检显示为淀粉样变性。尿液分析证实存在轻链。骨髓活检确诊为轻链多发性骨髓瘤。
虽然可以认为这可能只是巧合，但这些病症的罕见性以及神经功能障碍缺乏其他病因支持副肿瘤性现象的观点。
