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Aicardi–Goutières Syndrome: Brief Case Report

The case of a term newborn diagnosed with Aicardi–Goutières syndrome, a rare encephalopathy in our environment, with Mendelian inheritance pattern, characterized by a set of nonspecific neurological symptoms associated with typical findings of intracerebral calcifications. The case is presented with...

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Autores principales: Moscote-Salazar, Luis Rafael, Calderon-Miranda, Willem Guillermo, Deluquez Baute, Ray Vicente, Agrawal, Amit, Satyarthee, Guru Dutta, Maraby-Salgado, Johana, Padilla-Zambrano, Huber Said, Lopez-Cepeda, Daniela, Pacheco-Hernandez, Alfonso, Joaquim, Andrei F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5982501/
https://www.ncbi.nlm.nih.gov/pubmed/29899779
http://dx.doi.org/10.4103/JPN.JPN_67_17
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author Moscote-Salazar, Luis Rafael
Calderon-Miranda, Willem Guillermo
Deluquez Baute, Ray Vicente
Agrawal, Amit
Satyarthee, Guru Dutta
Maraby-Salgado, Johana
Padilla-Zambrano, Huber Said
Lopez-Cepeda, Daniela
Pacheco-Hernandez, Alfonso
Joaquim, Andrei F.
author_facet Moscote-Salazar, Luis Rafael
Calderon-Miranda, Willem Guillermo
Deluquez Baute, Ray Vicente
Agrawal, Amit
Satyarthee, Guru Dutta
Maraby-Salgado, Johana
Padilla-Zambrano, Huber Said
Lopez-Cepeda, Daniela
Pacheco-Hernandez, Alfonso
Joaquim, Andrei F.
author_sort Moscote-Salazar, Luis Rafael
collection PubMed
description The case of a term newborn diagnosed with Aicardi–Goutières syndrome, a rare encephalopathy in our environment, with Mendelian inheritance pattern, characterized by a set of nonspecific neurological symptoms associated with typical findings of intracerebral calcifications. The case is presented with diagnostic imaging, in addition to elevated levels of interferon alpha and cerebrospinal fluid lymphocytosis.
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spelling pubmed-59825012018-06-13 Aicardi–Goutières Syndrome: Brief Case Report Moscote-Salazar, Luis Rafael Calderon-Miranda, Willem Guillermo Deluquez Baute, Ray Vicente Agrawal, Amit Satyarthee, Guru Dutta Maraby-Salgado, Johana Padilla-Zambrano, Huber Said Lopez-Cepeda, Daniela Pacheco-Hernandez, Alfonso Joaquim, Andrei F. J Pediatr Neurosci Case Report The case of a term newborn diagnosed with Aicardi–Goutières syndrome, a rare encephalopathy in our environment, with Mendelian inheritance pattern, characterized by a set of nonspecific neurological symptoms associated with typical findings of intracerebral calcifications. The case is presented with diagnostic imaging, in addition to elevated levels of interferon alpha and cerebrospinal fluid lymphocytosis. Medknow Publications & Media Pvt Ltd 2018 /pmc/articles/PMC5982501/ /pubmed/29899779 http://dx.doi.org/10.4103/JPN.JPN_67_17 Text en Copyright: © 2018 Journal of Pediatric Neurosciences 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
Moscote-Salazar, Luis Rafael
Calderon-Miranda, Willem Guillermo
Deluquez Baute, Ray Vicente
Agrawal, Amit
Satyarthee, Guru Dutta
Maraby-Salgado, Johana
Padilla-Zambrano, Huber Said
Lopez-Cepeda, Daniela
Pacheco-Hernandez, Alfonso
Joaquim, Andrei F.
Aicardi–Goutières Syndrome: Brief Case Report
title Aicardi–Goutières Syndrome: Brief Case Report
title_full Aicardi–Goutières Syndrome: Brief Case Report
title_fullStr Aicardi–Goutières Syndrome: Brief Case Report
title_full_unstemmed Aicardi–Goutières Syndrome: Brief Case Report
title_short Aicardi–Goutières Syndrome: Brief Case Report
title_sort aicardi–goutières syndrome: brief case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5982501/
https://www.ncbi.nlm.nih.gov/pubmed/29899779
http://dx.doi.org/10.4103/JPN.JPN_67_17
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