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A RARE CASE OF GLOBOID CELL LEUCODYSTROPHY

Journal: University Journal of Medicine and Medical Specialities (Vol.4, No. 3)

Publication Date:

Authors : ;

Page : 99-101

Keywords : Globoid Cell Leukodystrophy; Beta Galactocerebrosidase; Hematopoiteic Stem Cell Transplantation;

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Abstract

Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a fatal degenerative disorder that affects the myelin sheath of the nervous system We present a rare case of Krabbes leukodystrophy in a 8 month old child who presented with features of hypertonia ,generalized seizures, recurrent fever and feeding difficulties and recurrent vomiting. Examination revealed classical features of spasticity and hypertonia and swallowing difficulty , on evaluvation for neurological illness MRI revealed characteristic bilateral symmetrical hyerintensities involving the cortical white matter ,enzyme assay confirmed the diagnosis of Krabbe leukodystrophy

Last modified: 2018-06-01 19:10:59