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Relapsing necrotising encephalomyelopathy due to RANBP2 mutation
Erin Kelly1,2, Jackson Harvey2, Kristian Brion3
1Neurology, Flinders Medical Centre, Adelaide, South Australia, Australia erin.kelly@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.
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