FOLLOWING THE NATURAL HISTORY OF A PROBABLE ADRENOLEUKODYSTROPHY CASE AND LITERATURE REVIEW
Journal: International Journal of Neurology and Brain Disorders (Vol.2, No. 2)Publication Date: 2015-10-17
Authors : Marco Orsini;
Page : 1-4
Keywords : leukodystrophy; X-linked Adrenoleukodystrophy; Spastic paraparesis; Cognitive decline.;
Abstract
Leukodystrophies compass a wide range of genetic disorders that compromise the white matter. Some of them exhibit different phenotypes with late and slow onset. The present work reports an unusual case of probable X-Linked Adrenoleukodystrophy that could be classified in adrenomyeloneupathy, but there were no signs of adrenal insufficiency and the cognitive decline developed fast. MRI evinced classical symmetrical parieto-occipital pattern of lesion, although dosage of very long chain fatty acids was normal.
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