Van Bogaert P, Van Nechel C, Goldman S, Szliwowski H B
Department of Pediatric Neurology, Hôpital Erasme, Université Libre de Bruxelles.
Acta Neurol Belg. 1993;93(5):268-75.
Five family members were examined because of occurrence since childhood of recurrent episodes characterized by vertigo, dysarthria and gait ataxia. Analysis of the pedigree was consistent with an autosomal dominant mode of inheritance. Though asymptomatic between attacks, all the patients presented on examination a gaze-evoked and rebound nystagmus associated with a saccadic pursuit, a deficient optokinetic response and an inability to suppress the horizontal oculo-vestibular reflex by fixation; hypermetric saccades and truncal ataxia were also present in most of them. A sixth family member, aged 6 years, was found to present a gaze-evoked nystagmus but was completely asymptomatic. Response of the attacks to acetazolamide therapy (250 mg twice a day) was assessed in two patients and was either partial or complete. A positron emission tomography (PET) study was realized between ataxic spells in one patient and demonstrated a decrease of glucose metabolism in the whole cerebellum, the inferior part of the temporal lobes and the thalami. These PET data as well as the detailed neuro-ophthalmological findings bring new informations about acetazolamide-responsive hereditary paroxysmal ataxia, a rare but probably often misdiagnosed and treatable disorder.
五名家庭成员因自幼反复出现以眩晕、构音障碍和步态共济失调为特征的发作而接受检查。系谱分析符合常染色体显性遗传模式。尽管发作间期无症状，但所有患者在检查时均表现出与扫视性追踪相关的凝视诱发和反弹性眼球震颤、视动反应缺陷以及无法通过注视抑制水平性眼前庭反射；大多数患者还存在眼球过冲和躯干共济失调。一名6岁的第六名家庭成员被发现有凝视诱发眼球震颤，但完全无症状。对两名患者评估了发作对乙酰唑胺治疗（每日两次，每次250毫克）的反应，反应为部分或完全缓解。对一名患者在共济失调发作间期进行了正电子发射断层扫描（PET）研究，结果显示整个小脑、颞叶下部和丘脑的葡萄糖代谢降低。这些PET数据以及详细的神经眼科检查结果为乙酰唑胺反应性遗传性阵发性共济失调带来了新信息，这是一种罕见但可能经常被误诊且可治疗的疾病。
