Aicardi-Goutières syndrome: Brief case report

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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Veröffentlicht in:Journal of pediatric neurosciences 2018-01, Vol.13 (1), p.88-90
Hauptverfasser: Moscote-Salazar, Luis, Calderon-Miranda, Willem, Deluquez Baute, Ray, Agrawal, Amit, Satyarthee, Guru, Maraby-Salgado, Johana, Padilla-Zambrano, Huber, Lopez-Cepeda, Daniela, Pacheco-Hernandez, Alfonso, Joaquim, Andrei
Format: Artikel
Sprache:eng
Schlagworte:
Aicardi syndrome
Care and treatment
Case Report
Case reports
Case studies
Diagnosis
Mutation
Neurology
Neurosurgery
Pediatrics
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Zusammenfassung: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.
ISSN:1817-1745
1998-3948
DOI:10.4103/jpn.JPN_67_17