Expósito PO, Pérez CIN, Santana SS, Val CMT

Language: Spanish
References: 14
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ABSTRACT

The adrenoleukodystrophy is a hereditary illness tied to the X-chromosome of recessive form caused by a defect in the ABCD1 gene, is a peroxisomal illness which causes accumulation in suero, the adrenal cortex and the white substance of the central system, of fatty acids of long chain. The clinic is characterized by neurological deterioration and adrenal insufficiency. Until now there has not been obtained a treatment that has been demonstrated effectively in the prevention or healing of the neurologic alterations. A patient is presented who fulfills clinical and criteria imaging of this entity.

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