IDEAS home Printed from https://ideas.repec.org/a/adp/joajnn/v9y2019i5p89-93.html
   My bibliography  Save this article

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

Author

Listed:
  • Amal Y. Kentab

    (Department of Pediatric, Neurology Division, King Khalid University Hospital, King Saud University Riyadh, Saudi Arabia)

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.

Suggested Citation

  • Amal Y. Kentab, 2019. "Further Brain Magnetic Resonance Imaging (MRI) Delineation of Aicardi-Goutières Syndrome (AGS)," Open Access Journal of Neurology & Neurosurgery, Juniper Publishers Inc., vol. 9(5), pages 89-93, February.
    • Handle: RePEc:adp:joajnn:v:9:y:2019:i:5:p:89-93
    DOI: 10.19080/OAJNN.2019.09.555772
    as

    Download full text from publisher

    File URL: https://juniperpublishers.com/oajnn/pdf/OAJNN.MS.ID.555772.pdf
    Download Restriction: no
    File URL: https://juniperpublishers.com/oajnn/OAJNN.MS.ID.555772.php
    Download Restriction: no
    File URL: https://libkey.io/10.19080/OAJNN.2019.09.555772?utm_source=ideas
    LibKey link: if access is restricted and if your library uses this service, LibKey will redirect you to where you can use your library subscription to access this item
    ---><---

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:adp:joajnn:v:9:y:2019:i:5:p:89-93. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    We have no bibliographic references for this item. You can help adding them by using this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: Robert Thomas (email available below). General contact details of provider: .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.