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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...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2018
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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. |
format | Online Article Text |
id | pubmed-5982501 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
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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