Relapsing necrotising encephalomyelopathy due to RANBP2 mutation

Erin Kelly, Jackson Harvey, Kristian Brion, Janice Fletcher, Mark Slee

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)360-363
Number of pages4
JournalPractical Neurology
Volume19
Issue number4
DOIs
Publication statusPublished - 22 Feb 2019

Keywords

  • clinical neurology
  • neurogenetics

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