Figura Monika, Gaweł Małgorzata, Kolasa Anna, Janik Piotr
Department of Neurology, Medical University of Warsaw, Warsaw, Poland.
2nd Department of Clinical Radiology, Medical University of Warsaw, Warsaw, Poland.
Neurol Neurochir Pol. 2014;48(5):368-72. doi: 10.1016/j.pjnns.2014.08.003. Epub 2014 Sep 6.
CANVAS (cerebellar ataxia with neuropathy and vestibular areflexia syndrome) is a rare neurological syndrome of unknown etiology. The main clinical features include bilateral vestibulopathy, cerebellar ataxia and sensory neuropathy. An abnormal visually enhanced vestibulo-ocular reflex is the hallmark of the disease. We present a case of 58-year-old male patient who has demonstrated gait disturbance, imbalance and paresthesia of feet for 2 years. On examination ataxia of gait, diminished knee and ankle reflexes, absence of plantar reflexes, fasciculations of thigh muscles, gaze-evoked downbeat nystagmus and abnormal visually enhanced vestibulo-ocular reflex were found. Brain magnetic resonance imaging revealed cerebellar atrophy. Vestibular function testing showed severely reduced horizontal nystagmus in response to bithermal caloric stimulation. Nerve conduction study revealed loss of upper and lower limb sensory nerve action potentials. The course of illness was progressive with ataxic gait and unsteadiness as the most disabling symptoms. We report 4-year follow-up of the patient since the beginning of the disease.
CANVAS(伴有神经病变和前庭反射消失综合征的小脑共济失调)是一种病因不明的罕见神经综合征。主要临床特征包括双侧前庭病变、小脑共济失调和感觉神经病变。异常的视觉增强前庭眼反射是该疾病的标志。我们报告一例58岁男性患者,其步态障碍、失衡及足部感觉异常已持续2年。检查发现步态共济失调、膝反射和踝反射减弱、跖反射消失、大腿肌肉束颤、凝视诱发的下跳性眼球震颤以及异常的视觉增强前庭眼反射。脑磁共振成像显示小脑萎缩。前庭功能测试显示,双侧冷热试验时水平眼震严重减弱。神经传导研究显示上下肢感觉神经动作电位消失。病程呈进行性,共济失调步态和不稳是最致残的症状。我们报告了该患者自疾病开始以来的4年随访情况。