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Neurological rarities
Relapsing necrotising encephalomyelopathy due to RANBP2 mutation
  1. Erin Kelly1,2,
  2. Jackson Harvey2,
  3. Kristian Brion3,
  4. Janice Fletcher3,
  5. Mark Slee1,4
  1. 1 Neurology, Flinders Medical Centre, Adelaide, South Australia, Australia
  2. 2 Neurology, Royal Adelaide Hospital, Adelaide, South Australia, Australia
  3. 3 Genetics and Molecular Pathology, Women's and Children's Hospital, Adelaide, South Australia, Australia
  4. 4 Neurology, Flinders University, Adelaide, South Australia, Australia
  1. Correspondence to Dr Erin Kelly, Neurology, Flinders Medical Centre, Adelaide, SA 5035, Australia; erin.kelly{at}sa.gov.au

Abstract

A young woman with a history of previously undiagnosed episodic neurological deterioration since early childhood associated with viral illnesses developed fulminant encephalitis. Standard investigations gave no diagnosis. Next-generation sequencing identified a heterozygous mutation c.1754C>T (p.Thr585Met) in the RANBP2 gene, giving the diagnosis of recurrent acute necrotising encephalopathy type 1. This condition is probably underdiagnosed, especially in adults, and should be considered in patients with recurrent encephalopathy.

  • neurogenetics
  • clinical neurology

https://doi.org/10.1136/practneurol-2018-002063

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    Footnotes

    • Contributors All authors provided substantial contributions to the writing and revision of this article. EK and JH contributed to the writing of the report and imaging selections. JF and MS provided expertise in the planning and reviewing of the report. KB performed the next-generation sequencing and interpretation of the genetic data, as well as contributed to reviewing the report. All authors gave final approval of the version to be published and agree to be accountable for the accuracy of the article. EK agrees to be the guarantor for the overall content.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent for publication Not required.

    • Provenance and peer review Not commissioned. Externally peer reviewed by Rhys Thomas, Newcastle upon Tyne, UK.

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