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Incidental Finding of MEGDEL Syndrome Based on Neuroimaging: Case Report

MEGDEL 3-methylglutaconic (MG) aciduria, deafness, encephalopathy, Leigh-like syndrome is an autosomal recessive disorder associated with infantile hypoglycemia, progressive psychomotor developmental delay, cerebellar atrophy with lesions in the basal ganglia, spasticity, dystonia, deafness, and tra...

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Detalles Bibliográficos
Autores principales: Alshammari, Salma A., Alghamdi, Fouad A., Alhazmi, Rami, Aldossary, Shaikhah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8299399/
https://www.ncbi.nlm.nih.gov/pubmed/34326751
http://dx.doi.org/10.1159/000516319