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Untreated recurrent acute necrotising encephalopathy associated with RANBP2 mutation, and normal outcome in a Caucasian boy

Abstract

Acute necrotising encephalopathy (ANE) is a rare encephalitis-like syndrome usually reported in East Asia. This clinical syndrome tends to be triggered by viral febrile illness with rapid deterioration to seizures, coma and a generally poor outcome. Diagnosis is usually made on Magnetic Resonance Imaging (MRI). Its epidemiology is unknown largely due to under-recognition. Recurrent ANE has recently been associated with a newly discovered autosomal dominant mutation RAN-binding protein 2 now termed ANE1. There had been reports encouraging the use of empirical corticosteroids as treatment for this condition. However, there have not been any clinical trials to date. Here we report an unusual case of a Caucasian toddler who had suffered two episodes of ANE, but did not receive any specific treatment and has normal physical and cognitive outcome at 1 year follow up. He has this missense mutation in the gene of the RAN-binding protein 2 as have his mother and brother who are both well. This case adds to the worldwide literature and expands on the spectrum of outcomes in order to bring about better recognition in the Caucasian population.

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References

  1. 1.

    Gika AD, Rich P, Gupta S et al (2010) Recurrent acute necrotizing encephalopathy following influenza A in a genetically predisposed family. Dev Med Child Neurol 52(1):99–102

    Article  PubMed  Google Scholar 

  2. 2.

    Kim JH, Kim I, Lim MK et al (2004) Acute necrotizing encephalopathy in Korean infants and children: imaging findings and diverse clinical outcome. Korean J Radiol 5:171–177

    Article  PubMed  Google Scholar 

  3. 3.

    Kirton A, Busche K, Ross C, Wirrell E (2005) Acute necrotizing encephalopathy in Caucasian children: two cases and review of the literature. J Child Neurol 20:527

    PubMed  Google Scholar 

  4. 4.

    Manara R, Franzoi M, Cogo P, Battistella PA (2006) Acute necrotizing encephalopathy: combined therapy and favorable outcome in a new case. Childs Nerv Syst 22:1231–1236

    Article  PubMed  Google Scholar 

  5. 5.

    Mastroyianni SD, Gionnis D, Konstantinos V, Skardoutsou A et al (2006) Acute necrotizing encephalopathy of childhood in non-Asian patients: report of three cases and literature review. J Child Neurol 21:872

    Article  PubMed  Google Scholar 

  6. 6.

    Mizuguchi M (1997) Acute necrotizing encephalopathy of childhood: a novel form of acute encephalopathy prevalent in Japan and Taiwan. Brain Dev 19(2):81–92

    CAS  Article  PubMed  Google Scholar 

  7. 7.

    Mizuguchi M, Abe J, Mikkaichi K et al (1995) Acute necrotising encephalopathy of childhood: a new syndrome presenting with multifocal, symmetric brain lesions. J Neurol Neurosurg Psychiatry 58(5):555–561

    CAS  Article  PubMed  Google Scholar 

  8. 8.

    Neilson DE, Adams MD, Orr C et al (2009) Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. Am J Hum Genet 84(1):44–51

    CAS  Article  PubMed  Google Scholar 

  9. 9.

    Neilson DE, Feiler HS, Wilhelmsen KC et al (2003) Autosomal dominant acute necrotizing encephalopathy. Neurology 22(61(2)):226–230

    Google Scholar 

  10. 10.

    Okumura A, Mizuguchi M, Kidokoro H et al (2009) Outcome of acute necrotizing encephalopathy in relation to treatment with corticosteroids and gammaglobulin. Brain & Dev 31(3):221–7

    Article  Google Scholar 

  11. 11.

    Troedson C, Gill D, Dale R (2008) Emergence of acute necrotising encephalopathy in Australia. J Paediatr Child Health 44(10):599–601

    Article  PubMed  Google Scholar 

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Acknowledgement

Derek Neilson, Division of Human Genetics, Cincinnati Children's Hospital Medical Centre, Cincinnati, OH, USA for performing the genetic testing.

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All authors declare there are no financial disclosures and no conflict of interest.

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Correspondence to Ne-Ron Loh.

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Loh, NR., Appleton, D.B. Untreated recurrent acute necrotising encephalopathy associated with RANBP2 mutation, and normal outcome in a Caucasian boy. Eur J Pediatr 169, 1299–1302 (2010). https://doi.org/10.1007/s00431-010-1213-8

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Keywords

  • Acute necrotising encephalopathy
  • RANBP2
  • Untreated
  • Encephalitis
  • Caucasian
  • Influenza A
  • Seizures
  • Bilateral thalami
  • Putamen
  • Pons
  • Chromosome 2q 11–13 (OMIM 601181)
  • ANE1