Hankey G J, Gubbay S S
Department of Neurology, Royal Perth Hospital, WA.
Med J Aust. 1989 Mar 6;150(5):277-8. doi: 10.5694/j.1326-5377.1989.tb136463.x.
A teen-age girl presented with recurrent stereotyped episodes of vertigo and ataxia and manifested constant horizontal gaze-evoked nystagmus. Cranial computed tomographic scans and metabolic biochemical screens gave normal results. The diagnosis of familial periodic ataxia was made from the family history and examination of the family members. Familial periodic ataxia is a rare disorder of cerebellar function which is inherited dominantly and has a benign prognosis. The underlying pathophysiology remains uncertain but a therapeutic response frequently is achieved with acetazolamide.
一名十几岁女孩出现反复发作的刻板性眩晕和共济失调发作，并表现出持续的水平性视诱发性眼球震颤。头颅计算机断层扫描和代谢生化筛查结果均正常。根据家族史及对家庭成员的检查，诊断为家族性周期性共济失调。家族性周期性共济失调是一种罕见的小脑功能障碍疾病，呈显性遗传，预后良好。其潜在的病理生理学机制尚不确定，但乙酰唑胺治疗常能取得疗效。
