Aicardi-Goutières syndrome

Case contributed by Francis Fortin , 28 Jul 2022
Diagnosis certain
Changed by Joachim Feger, 2 Feb 2024
Disclosures - updated 27 Nov 2023: Nothing to disclose

Updates to Case Attributes

Body was changed:

Diagnosis of moderate Aicardi-Goutières syndrome was confirmed by paediatric neurologists after confirming a mutation in the RNaseH2B gene, involved in the interferon pathway.

Case courtesy of Dr An Lesage, MD.

  • -<p>Diagnosis of moderate <a title="Aicardi-Goutières syndrome" href="/articles/aicardi-goutieres-syndrome-3">Aicardi-Goutières syndrome</a> was confirmed by paediatric neurologists after confirming a mutation in the RNaseH2B gene, involved in the interferon pathway.</p><p> </p><p><em>Case courtesy of Dr An Lesage, MD</em>.</p>
  • +<p>Diagnosis of moderate <a title="Aicardi-Goutières syndrome" href="/articles/aicardi-goutieres-syndrome-3">Aicardi-Goutières syndrome</a> was confirmed by paediatric neurologists after confirming a mutation in the RNaseH2B gene, involved in the interferon pathway.</p><p>&nbsp;</p><p><em>Case courtesy of Dr An Lesage, MD</em>.</p>

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