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Chediak-Higashi Syndrome Presented as Accelerated Phase in a 3 Year Girl Child: Case Report of a Rare Entity

Abstract

Sen Rajeev, Kataria Sant Prakash, Agarwal Ruchi, Chhabra Sonia and Mittal Kundan

Rasmussen encephalitis (RE) is a rare and progressive disease of childhood. We report the case of 14-year-old girl who presented with recurrent partial and generalized epileptic seizures with mental impairment and progressive left sided hemiplegia. EEG showed slowing of the background activity and paroxysmal discharges of slow waves in the right hemisphere. Serial MRI brain scans revealed an important atrophy of the right hemisphere with dilatation of the ipsilateral lateral ventricle. The residual phase, characterized by decrease in seizure frequency and stabilization in the hemiparesis, constitute the ultimate stage of RE.

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