A RARE CASE OF GLOBOID CELL LEUCODYSTROPHY

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