Adrenomieloneuropatía. Caracterización electrofisiológica de 2 casos.
Year: 2022
Type: article
Study design: Case Report
Abstract: Adrenomyeloneuropathy is an inherited metabolic disorder linked to the X chromosome, consisting of a deficit of peroxisomal activity that causes accumulation of very long chain fatty acids, and primary adrenal insufficiency. They're in these patients show signs of demyelination at the level of the central and peripheral nervous system. The main symptoms of this disease are given by the development of a spastic paraparesis, deep sensitivity disorders in the distal segments of the limbs, bladder control disorders and various peripheral disorders. Considered as a demyelinating disease, the scarcity of works that have been published on the alterations that appear in these patients in neurophysiological studies is striking. In the present work, the alterations seen in 2 cases (mother and son) diagnosed as adrenomyeloneuropathy will be described.
Language: Spanish
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W7221841201