Congenital biotinidase deficiency – MRI findings in two cases

Congenital biotinidase deficiency is a rare inborn error of metabolism that most commonly presents in infantile age group. Diffusion changes on magnetic resonance imaging (MRI) are sparsely described in the literature. We are presenting diffusion-weighted MRI findings in two confirmed cases of conge...

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Detalles Bibliográficos
Autores principales: Ranjan, Rahul S, Taneja, Sunil, Singh, Anil, Gupta, Vikas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467045/
https://www.ncbi.nlm.nih.gov/pubmed/31000952
http://dx.doi.org/10.4103/ijri.IJRI_159_18
Descripción
Sumario:Congenital biotinidase deficiency is a rare inborn error of metabolism that most commonly presents in infantile age group. Diffusion changes on magnetic resonance imaging (MRI) are sparsely described in the literature. We are presenting diffusion-weighted MRI findings in two confirmed cases of congenital biotinidase deficiency in infantile age group with review of literature.

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