Cerebral adrenoleukodystrophy
Abstract
Adrenoleukodystrophy is a genetically determined disorder associated with progressive central demyelination, adrenal insufficiency and hypogonadism.(1) Cerebral adrenoleukodystrophy is a severe form presenting as spastic quadriparesis, pseudobulbar palsy and hypoadrenalism.(2) Diagnosis is by characteristic magnetic resonance imaging (MRI) and demonstation of abnormally high levels of very long chain fatty acids in plasma,red blood cells, or skin fibroblasts. Here we present a case report of a nine year old boy having progressive spastic quadriparesis, behavioural problems with magnetic resonance imaging of brain showing bilateral symmetrical white matter lesions in parieto occipital region and elevated levels of branched chain fatty acids suggestive of adrenoleukodystrophy.
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