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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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
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author Ranjan, Rahul S
Taneja, Sunil
Singh, Anil
Gupta, Vikas
author_facet Ranjan, Rahul S
Taneja, Sunil
Singh, Anil
Gupta, Vikas
author_sort Ranjan, Rahul S
collection PubMed
description 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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spelling pubmed-64670452019-04-18 Congenital biotinidase deficiency – MRI findings in two cases Ranjan, Rahul S Taneja, Sunil Singh, Anil Gupta, Vikas Indian J Radiol Imaging Case Report 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. Wolters Kluwer - Medknow 2019 /pmc/articles/PMC6467045/ /pubmed/31000952 http://dx.doi.org/10.4103/ijri.IJRI_159_18 Text en Copyright: © 2019 Indian Journal of Radiology and Imaging http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Ranjan, Rahul S
Taneja, Sunil
Singh, Anil
Gupta, Vikas
Congenital biotinidase deficiency – MRI findings in two cases
title Congenital biotinidase deficiency – MRI findings in two cases
title_full Congenital biotinidase deficiency – MRI findings in two cases
title_fullStr Congenital biotinidase deficiency – MRI findings in two cases
title_full_unstemmed Congenital biotinidase deficiency – MRI findings in two cases
title_short Congenital biotinidase deficiency – MRI findings in two cases
title_sort congenital biotinidase deficiency – mri findings in two cases
topic Case Report
url 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
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AT guptavikas congenitalbiotinidasedeficiencymrifindingsintwocases

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