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Formation of a de novo intracranial arteriovenous fistula in a child with PTEN hamartoma tumor syndrome

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Abstract

Purpose

Dural arteriovenous fistulae (dAVF) are an uncommon feature of PTEN hamartoma tumor syndrome (PHTS). We report a case of an adolescent male diagnosed with PHTS following the treatment of multiple intracranial dAVF to emphasize the association of vascular anomalies with this disorder and discuss potential implications.

Case Report

An adolescent male presented with bilateral proptosis secondary to intracranial venous hypertension. Workup revealed the presence of a complex intracranial dAVF which was treated with several embolization procedures. Following treatment, a de novo dAVF was identified on surveillance imaging. A genetic workup revealed a pathogenic mutation in PTEN consistent with a diagnosis of PHTS.

Conclusions

Recognition that PHTS may be associated with dAVF, and potentially delayed spontaneous formation of dAVF, is critically important due to the potential for devastating yet preventable neurologic sequelae.

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Acknowledgements

We thank Sumit Pruthi, MBBS and Daniel J. Benedetti, MD, MA, for their insight into this topic and contributions in the drafting of this manuscript.

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Authors and Affiliations

  1. Department of Neurological Surgery, Vanderbilt University Medical Center, T-4224 MCN, Nashville, TN, 37232-2380, USA

    Steven G. Roth & Michael J. Feldman

  2. Cerebrovascular Program, Vanderbilt University Medical Center and Vanderbilt Children’s Hospital, Nashville, TN, USA

    Steven G. Roth, Michael J. Feldman & Michael T. Froehler

  3. Department of Pediatrics, Division of Hematology/Oncology, Vanderbilt Children’s Hospital, Nashville, TN, USA

    Alexandra J. Borst

Authors
  1. Steven G. Roth
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  2. Michael J. Feldman
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  3. Alexandra J. Borst
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  4. Michael T. Froehler
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Contributions

Conceptualization: Michael Froehler, MD, Ph.D.; methodology: Steven Roth, MD; formal analysis and investigation: Steven Roth, MD; writing — original draft preparation: Steven Roth, MD; writing — review and editing: Steven Roth, MD; Michael Feldman, MD; Alexandra Borst, MD; Michael Froehler, MD, Ph.D.; supervision: Michael Froehler, MD, Ph.D.

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Correspondence to Steven G. Roth.

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This work was approved by the Vanderbilt University Medical Center Institutional Review Board (IRB #210237).

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The authors declare no competing interests.

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Roth, S.G., Feldman, M.J., Borst, A.J. et al. Formation of a de novo intracranial arteriovenous fistula in a child with PTEN hamartoma tumor syndrome. Childs Nerv Syst 38, 1029–1033 (2022). https://doi.org/10.1007/s00381-021-05321-6

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  • DOI: https://doi.org/10.1007/s00381-021-05321-6

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