Kulkarni P K, Muthane U B, Taly A B, Jayakumar P N, Shetty R, Swamy H S
Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India.
Mov Disord. 1999 Jul;14(4):689-93. doi: 10.1002/1531-8257(199907)14:4<689::aid-mds1022>3.0.co;2-8.
We describe a patient with an unusual clinical presentation of progressive multiple cranial nerve palsies, cerebellar ataxia, and palatal tremor (PT) resulting from an unknown etiology. Magnetic resonance imaging showed evidence of hypertrophy of the inferior olivary nuclei, brain stem atrophy, and marked cerebellar atrophy. This combination of progressive multiple cranial nerve palsies, cerebellar ataxia, and PT has never been reported in the literature. We have also reviewed the literature of PT secondary to neurodegenerative causes. In a total of 23 patients, the common causes are sporadic olivopontocerebellar atrophy (OPCA; 22%), Alexander's disease (22%), unknown etiology (43.4%), and occasionally progressive supranuclear palsy (4.3%) and spinocerebellar degeneration (4.3%). Most patients present with progressive cerebellar ataxia and approximately two thirds of them have rhythmic tremors elsewhere. Ear clicks are observed in 13% and evidence of hypertrophy of the inferior olivary nucleus in 25% of the patients. The common neurodegenerative causes of PT are OPCA/multiple system atrophy, Alexander's disease, and, in most of them, the result of an unknown cause.
我们描述了一名患者,其临床表现为进行性多发颅神经麻痹、小脑共济失调和腭震颤(PT),病因不明。磁共振成像显示下橄榄核肥大、脑干萎缩和明显的小脑萎缩。这种进行性多发颅神经麻痹、小脑共济失调和PT的组合在文献中从未有过报道。我们还回顾了继发于神经退行性病因的PT的文献。在总共23例患者中,常见病因是散发性橄榄桥脑小脑萎缩(OPCA;22%)、亚历山大病(22%)、病因不明(43.4%),偶尔还有进行性核上性麻痹(4.3%)和脊髓小脑变性(4.3%)。大多数患者表现为进行性小脑共济失调,其中约三分之二在其他部位有节律性震颤。13%的患者观察到耳部咔嗒声,25%的患者有下橄榄核肥大的证据。PT常见的神经退行性病因是OPCA/多系统萎缩、亚历山大病,并且在大多数情况下,是病因不明的结果。