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Pract Neurol. 2019 Feb 22. pii: practneurol-2018-002063. doi: 10.1136/practneurol-2018-002063. [Epub ahead of print]

Relapsing necrotising encephalomyelopathy due to RANBP2 mutation.

Author information

1
Neurology, Flinders Medical Centre, Adelaide, South Australia, Australia erin.kelly@sa.gov.au.
2
Neurology, Royal Adelaide Hospital, Adelaide, South Australia, Australia.
3
Genetics and Molecular Pathology, Women's and Children's Hospital, Adelaide, South Australia, Australia.
4
Neurology, Flinders Medical Centre, Adelaide, South Australia, Australia.
5
Neurology, Flinders University, Adelaide, South Australia, Australia.

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.

KEYWORDS:

clinical neurology; neurogenetics

Conflict of interest statement

Competing interests: None declared.

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