Further Brain Magnetic Resonance Imaging (MRI) Delineation of Aicardi-Goutières Syndrome (AGS)

Amal Y. Kentab
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Amal Y. Kentab: Department of Pediatric, Neurology Division, King Khalid University Hospital, King Saud University Riyadh, Saudi Arabia

Open Access Journal of Neurology & Neurosurgery, 2019, vol. 9, issue 5, 89-93

Abstract: Aicardi-Goutières syndrome (AGS) is a genetically heterogeneous disorder reported previously as an inherited congenital infection-like syndrome. It is characterized by an early onset progressive encephalopathy, brain calcification, leukodystophy, CSF chronic lymphocytosis, elevated CSF alpha-interferon, and negative results for common prenatal infections. It is autosomal-recessive or rarely autosomal-dominant and caused by mutations in one of several genes TREX1, RNASEH2A, RNASEH2B, and RNASEH2C, SAMHD1, IFIH1, and ADAR. The Magnetic resonance imaging findings of two male siblings diagnosed genetically with AGS 5 due to a homozygous mutation in SAMHD1 with very similar characteristics comprising profound psychomotor retardation, progressive microcephaly, spasticity, dystonic posturing, and tonic seizures are reported. The author reviewed the literature to delineate a specific MRI pattern of AGS.

Keywords: Open Access Journal of Neurology; Journal of Neurology & Neurosurgery; Open Access Journal; juniper publishers; neurology open access journals; journal of neurology; neurology indexed journals; neurology scholarly journals; journal of neurology; neurology journals impact factor; juniper publishers reivew (search for similar items in EconPapers)
Date: 2019
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Persistent link: https://EconPapers.repec.org/RePEc:adp:joajnn:v:9:y:2019:i:5:p:89-93

DOI: 10.19080/OAJNN.2019.09.555772

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