Abstract

GOMEZ FRANCO, Ricardo  and  SANTANA PORRAS, Julián David. Adrenomyeloneuropathy type Adrenoleukodystrophy in a 32 years male: a case report. Acta Neurol Colomb. [online]. 2018, vol.34, n.4, pp.233-238. ISSN 0120-8748.  https://doi.org/10.22379/24224022219.

Adrenoleukodystrophy, the most common peroxisomal disorder, is a genetic condition linked to the X chromosome in which a defect of beta oxidation of very long chain fatty acids occurs within the perosixome with its consequent accumulation in different tissues leading to mainly neurological and endocrinological manifestations; there is a phenotypic variability according to the age of presentation including the adult form called adrenomyeloneuropathy. This case report refers to an adult male with multiple visits to emergency departments in relation to dorsal spinal symptoms with evidence of adrenal insufficiency and paraclinical support the diagnosis of adrenomyeloneuropathy.

Keywords : adrenoleukodystrophy; adrenomyeloneuropathy; adrenal insufficiency (MeSH).

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