Recurrent acute necrotizing encephalopathy following influenza A in a genetically predisposed family
- 18 December 2009
- journal article
- case report
- Published by Wiley in Developmental Medicine and Child Neurology
- Vol. 52 (1), 99-102
- https://doi.org/10.1111/j.1469-8749.2009.03405.x
Abstract
Acute necrotizing encephalopathy (ANE) typically affects young, healthy children who develop rapid-onset severe encephalopathy triggered by viral infections. This disease is more commonly reported in Japan but occurs worldwide, although it remains under-recognized in Western countries. An autosomal dominant form, ANE1, was recently identified. We report the details of a 9-year-old Caucasian female who experienced recurrent ANE episodes at the ages of 9 months and 9 years. Brain magnetic resonance imaging findings were characteristic of ANE during both episodes, although more extensive in the recent episode, which resulted in severe neurological sequelae; influenza A was identified on bronchoalveolar lavage during this episode. Interestingly, there was evidence of peripheral polyneuropathy during the recent episode, which has not previously been described in sporadic ANE. Both the patient and her mother, who had also had postviral polyneuritis in the past, harbour a mutation in Ran-binding protein 2 (RANBP2); this occurred de novo in the mother and confers genetic susceptibility to ANE. Our case suggests that recurrent disease and/or an expanded clinical phenotype raises the possibility of ANE1; positive family history, although supportive, is not necessary as the mutation can occur de novo. Increased awareness may lead to earlier recognition and better treatment options.Keywords
This publication has 15 references indexed in Scilit:
- Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2American Journal of Human Genetics, 2008
- Acute necrotizing encephalopathy: a relapsing case in a European adultJournal of Neurology, Neurosurgery & Psychiatry, 2008
- Three siblings with triple A syndrome with a novel frameshift mutation in the AAAS gene and a review of 17 independent patients with the frequent p.Ser263Pro mutationEuropean Journal of Pediatrics, 2008
- Acute Necrotizing Encephalopathy of Childhood in Non-Asian Patients: Report of Three Cases and Literature ReviewJournal of Child Neurology, 2006
- Acute Necrotizing Encephalopathy in Caucasian Children: Two Cases and Review of the LiteratureJournal of Child Neurology, 2005
- Autosomal dominant acute necrotizing encephalopathy maps to 2q12.1‐2q13Annals of Neurology, 2004
- Autosomal dominant acute necrotizing encephalopathyNeurology, 2003
- Acute necrotizing encephalopathy of childhood with radiographic progression over 10 hoursNeurology, 2003
- Acute necrotizing encephalopathy of childhood (infantile bilateral thalamic necrosis): two non‐Japanese casesDevelopmental Medicine and Child Neurology, 1998
- Acute necrotizing encephalopathy of childhood: a novel form of acute encephalopathy prevalent in Japan and TaiwanBrain & Development, 1997