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. 2022 Mar 8;98(10):417-418.
doi: 10.1212/WNL.0000000000013294. Epub 2022 Jan 7.

Cutaneous Lesions as a Clue to the Etiology of Extensive Intracranial Calcifications: Aicardi-Goutières Syndrome

Yi-Heng Zeng  1 , Miao Zhao  1 , Xin-Xin Guo  1 , Ning Wang  1 , Wan-Jin Chen  2
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Cutaneous Lesions as a Clue to the Etiology of Extensive Intracranial Calcifications: Aicardi-Goutières Syndrome

Yi-Heng Zeng et al. Neurology. .
No abstract available

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Figures

Figure
Figure. Brain CT and Cutaneous Findings in Aicardi-Goutières Syndrome
(A–C) Brain CT reveals severe and extensive bilateral intracranial calcifications in the basal ganglia, thalamus, cerebellum, and subcortical white matter. (D) Dermatology examination uncovers small hypopigmented macules in the dorsal aspect of both hands.
See this image and copyright information in PMC

References

    1. Rice GI, Kasher PR, Forte GM, et al. . Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nat Genet. 2012;44(11):1243-1248. - PMC - PubMed
    1. Crow YJ, Hayward BE, Parmar R, et al. . Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat Genet. 2006;38(8):917-920. - PubMed

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