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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.
Practical Neurology
|February 24, 2019
Summary
Recurrent acute necrotising encephalopathy type 1 (RAN-E1) is a rare genetic disorder. Next-generation sequencing identified a RANBP2 gene mutation in a young woman with unexplained neurological deterioration, leading to this diagnosis.
Area of Science:
- Neurology
- Genetics
- Molecular Biology
Background:
- Episodic neurological deterioration in a young woman, associated with viral infections, remained undiagnosed despite extensive investigations.
- The patient presented with severe, acute neurological decline, mimicking fulminant encephalitis.
Observation:
- Standard diagnostic workups failed to identify the cause of the patient's recurrent neurological episodes.
- Next-generation sequencing (NGS) was employed to investigate the underlying genetic basis of the condition.
Findings:
- A heterozygous mutation, c.1754C>T (p.Thr585Met), was identified in the RANBP2 gene.
- This genetic finding confirmed the diagnosis of recurrent acute necrotising encephalopathy type 1 (RAN-E1).
Implications:
- Recurrent acute necrotising encephalopathy type 1 may be underdiagnosed, particularly in adult patients.
- Clinicians should consider RAN-E1 in the differential diagnosis for individuals presenting with recurrent encephalopathy, especially following viral triggers.
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