A child with global neuroregression with refractory epilepsy

International Journal of Epilepsy - Tập 1 - Trang 92-93 - 2014
Rachana Dubey1, Biswaroop Chakrabarty1, Sheffali Gulati1, Atin Kumar2
1Division of Pediatric Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110 029, India
2Department of Radio-Diagnosis, JPNA Trauma Centre, All India Institute of Medical Sciences, New Delhi, India

Tóm tắt

AbstractHypomyelinating 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.

Tài liệu tham khảo

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Thông tin xuất bản

International Journal of Epilepsy

Tập 1

92-93

Thông tin tác giả