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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Detalles Bibliográficos
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:
Case Report
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
Descripción
Sumario: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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