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CC BY-NC-ND 4.0 · International Journal of Epilepsy 2014; 01(02): 092-093
DOI: 10.1016/j.ijep.2014.05.005
DOI: 10.1016/j.ijep.2014.05.005
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A child with global neuroregression with refractory epilepsy
Further Information
Publication History
Received: 09 February 2014
Accepted: 28 May 2014
Publication Date:
04 May 2018 (online)
Abstract
Hypomyelinating disorders have wide spectrum of clinical and radiological manifestations. A 17-month-old girl presented with baseline global developmental delay with insidious onset global neuroregression with refractory seizures from 1 year of age. Her birth and family history were noncontributory. Salient features on examination were central hypotonia and retinal cherry red spot. MRI Brain revealed characteristic white matter and basal ganglia changes. Her serum hexosaminidase A levels were undetectable. Identification of these radiological changes is crucial in directing appropriate enzyme and mutation testing in these patients.
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