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Journal of Case Reports
Sporadic Progressive Young Onset Pallido-Pyramidal Syndrome with Kuforrakeb like Features
Bhawna Sharma1, Parul Dubey2, Ashok Panagariya1, Rahul Pathak1
1Department of Neurology, SMS Medical College, Jaipur, India; 2Department of Neurology, Manipal Hospitals, Goa, India.
Corresponding Author:
Dr Parul Dubey 
Email: drdubeyparul@gmail.com
Received: 18-DEC-2018 Accepted: 19-NOV-2019 Published Online: 25-DEC-2019
DOI: http://dx.doi.org/10.17659/01.2019.0070
Abstract
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.
Keywords : Dementia, Dystonia, Kufor Rakeb Syndrome, Pallidopyramidal syndrome, Parkinson Diseaase, Spasm.
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