Sporadic Progressive Young Onset Pallido-Pyramidal Syndrome with Kuforrakeb like Features

[摘要] Background: Pallidopyramidal syndromes (PPS) are rare group of familial parkinsonian disorders with combination of extra-pyramidal, pyramidal, cerebellar or cognitive features. Kufor Rakeb disease is a variety of young onset Parkinson’s disease with autosomal recessive inheritance (PARK 9, ATP 13A2 gene) presenting with early parkinsonian features, pyramidal signs, mild cerebellar dysfunction, supranuclear gaze palsy, dementia, facial-finger–faucial minimyoclonus, blepharospasm and oculo-gyric dystonic spasms. Case Report: We describe this rare case of sporadic pallidopyramidal syndrome with additional clinical features resembling Kufor Rakeb syndrome, without evidence of brain iron accumulation on imaging. Conclusion: This rare case of sporadic pallidopyramidal syndrome is described with additional clinical features resembling Kufor Rakeb syndrome.

[学科分类] 生理学

[关键词] Dementia;Dystonia;Kufor Rakeb Syndrome;Pallidopyramidal syndrome;Parkinson Diseaase;Spasm.