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Intracerebral large artery disease in Aicardi-Goutières syndrome with TREX1 mutation: a case report

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Abstract

We report a patient diagnosed with Aicardi-Goutières syndrome (AGS) with homozygous TREX1 gene mutation. Her magnetic resonance angiography (MRA) showed intracerebral large artery disease, which was rarely reported in the past in TREX1 AGS patients. Her younger sister also had homozygous TREX1 gene mutation and died of necrotizing enterocolitis. Intracerebral large artery involvement has been seen as a particular feature of SAMHD1-related disease. Our patient also had arthropathy, which is a finding more commonly mentioned in SAMHD1-related diseases. The observations in our case may contribute to our understanding of the pathogenetic mechanism of TREX1 AGS, involving the intracerebral large arteries, arthropathy, and possibly the gastrointestinal tract.

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References

  1. Livingston JH, Crow YJ (2016) Neurologic phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi–Goutières syndrome and beyond. Neuropediatrics 47:355–360

    Article  CAS  Google Scholar 

  2. Ramesh V, Bernardi B, Stafa A, Garone C, Franzoni E, Abinun M, Mitchell P, Mitra D, Friswell M, Nelson J, Shalev SA, Rice GI, Gornall H, Szynkiewicz M, Aymard F, Ganesan V, Prendiville J, Livingston JH, Crow YJ. Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis. Dev Med Child Neurol. 2010 Aug;52(8):725-32. 

  3. Adang LA, Gavazzi F, Jawad AF, Cusack SV, Kopin K, Peer K, Besnier C, De Simone M, De Giorgis V, Orcesi S, Fazzi E, Galli J, Shults J, Vanderver A (2020) Development of a neurologic severity scale for Aicardi Goutières syndrome. Mol Genet Metab 130:153–160

    Article  CAS  Google Scholar 

  4. Uggetti C, La Piana R, Orcesi S, Egitto MG, Crow YJ, Fazzi E (2009) Aicardi-Goutières syndrome: neuroradiologic findings and follow-up. Am J Neuroradiol 30:1971–1976

    Article  CAS  Google Scholar 

  5. Adang L, Gavazzi F, De Simone M, Fazzi E, Galli J, Koh J, Kramer-Golinkoff J, De Giorgis V, Orcesi S, Peer K, Ulrick N, Woidill S, Shults J, Vanderver A. Developmental Outcomes of Aicardi Goutières Syndrome. J Child Neurol. 2020 Jan;35(1):7-16.

  6. Dale RC, Gornall H, Singh-Grewal D, Alcausin M, Rice GI, Crow YJ (2010) Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures. Am J Med Genet A 152A:938–942

    Article  Google Scholar 

  7. Lee-Kirsch MA, Chowdhury D, Harvey S, Gong M, Senenko L, Engel K, Pfeiffer C, Hollis T, Gahr M, Perrino FW, Lieberman J, Hubner N (2007) A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus. J Molec Med 85:531–537

    Article  CAS  Google Scholar 

  8. Moscote-Salazar LR, Calderon-Miranda WG, Deluquez Baute RV, Agrawal A, Satyarthee GD, Maraby-Salgado J, Padilla-Zambrano HS, Lopez-Cepeda D, Pacheco-Hernandez A, Joaquim AF (2018) Aicardi–Goutières syndrome: brief case report. J Pediatr Neurosci 13:88–90

    Article  Google Scholar 

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Acknowledgments

We sincerely thank the patient and her parents for their cooperation in the testing of genetic samples and their consent to this publication.

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Authors and Affiliations

  1. Department of Pediatrics, National Taiwan University Hospital, 8, Chung-Shan South Road, Taipei, 100, Taiwan

    Chang-Chun Wu & Wang-Tso Lee

  2. Department of Pediatrics, Taipei City Hospital- Heping Fuyou Branch, Taipei, Taiwan

    Chang-Chun Wu

  3. Department of Medical Imaging, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan

    Steven Shinn-Forng Peng

  4. Department of Pediatrics, National Taiwan University College of Medicine, Taipei, Taiwan

    Wang-Tso Lee

  5. Graduate Institute of Brain and Mind Sciences, National Taiwan University College of Medicine, Taipei, Taiwan

    Wang-Tso Lee

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  1. Chang-Chun Wu
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  2. Steven Shinn-Forng Peng
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Correspondence to Wang-Tso Lee.

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ESM 1

Supplementary Figure. Genealogic tree. The index patient has homozygous TREX1 c.292_293insA variant, so does her younger sister, who deceased at 20 days old due to necrotizing enterocolitis. Her parents were unrelated, and both had heterozygous TREX1 c.292_293insA variant. The genetic study of both grandparents was not done. (JPG 24 kb)

ESM 2

Supplementary Table TREX1 gene variants in Aicardi -Goutieres syndrome patients that have been reported in the literature. (DOCX 24 kb)

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Wu, CC., Peng, S.SF. & Lee, WT. Intracerebral large artery disease in Aicardi-Goutières syndrome with TREX1 mutation: a case report. Neurol Sci 41, 3353–3356 (2020). https://doi.org/10.1007/s10072-020-04516-0

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  • DOI: https://doi.org/10.1007/s10072-020-04516-0

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