Cerebellar ataxia with neuropathy and vestibular areflexia syndrome(CANVAS)の1例  [in Japanese] Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS): a case report  [in Japanese]

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Author(s)

    • 丸田 恭子 Maruta Kyoko
    • 国立病院機構南九州病院神経内科 Department of Neurology, National Hospital Organization Minamikyushu National Hospital
    • 青木 光広 Aoki Mitsuhiro
    • 岐阜大学大学院医学系研究科耳鼻咽喉科 Department of Otolaryngology, Gifu University Graduate School of Medicine
    • 園田 至人 Sonoda Yoshito
    • 国立病院機構南九州病院神経内科 Department of Neurology, National Hospital Organization Minamikyushu National Hospital

Abstract

<p>76歳,女性.67歳時にふらつき,73歳から両手,74歳から下肢の感覚鈍麻を自覚した.触覚・痛覚・振動覚は両下腿以下で低下,アキレス腱反射は低下しており,四肢の感覚神経活動電位(sensory action potential; SAP)は導出不能であった.協調運動は軽度拙劣で著明な失調歩行がみられ,頭部MRIでは小脳萎縮を認めた.神経耳科学的検査ではvisually enhanced vestibulo-ocular reflex(VVOR)の異常,video head impulse test(vHIT)で両側ゲインの低下とcatch up saccadeを認めた.以上から,まれな疾患であるcerebellar ataxia with neuropathy and vestibular areflexia syndrome(CANVAS)と診断した.本症の臨床像を文献的検討を加えて報告した.</p>

<p>Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a rare form of multisystem ataxia defined by a triad of cerebellar impairment, bilateral vestibular hypofunction, and somatosensory deficit. Here we present a patient with CANVAS. A 76-year-old woman whose parents were cousins had noted slowly worsening gait imbalance since age 67. Peripheral sensory impairment was evident since age 73. When examined at 74, she had a frequent cough. The neurologic examinations showed scanning speech, downbeat nystagmus, pursuit eye movements with saccadic features, truncal ataxia, and mild dysmetria of the extremities. The Romberg test was positive. Light touch, pinprick, and vibration sensation were absent in the distal lower limbs, where allodynia could be demonstrated. Ankle jerk reflex was diminished. Muscle strength was normal. Nerve conduction studies disclosed absence of sensory nerve action potentials in all limbs, while motor conduction was normal except for decreased amplitude of left median and bilateral ulnar nerve compound motor action potentials. MRI of the brain demonstrated cerebellar atrophy. The eye tracking test for the smooth pursuit and visually enhanced vestibulo-ocular reflex test demonstrated functional impairments. Both the bithermal caloric test and the video head impulse testing showed sever hypofunction of the bilateral semicircular canal. In sum, somatosensory deficit and otoneurologic examinations indicated bilateral vestibulopathy which, together with the patient<sup>'</sup>s and cerebellar impairment, confirmed the diagnosis of CANVAS.</p>

Journal

  • Rinsho Shinkeigaku

    Rinsho Shinkeigaku 59(1), 27-32, 2019

    Societas Neurologica Japonica

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