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

European Journal of Pediatrics

Volumn 169, Issue 10, 2010, Pages 1299-1302

  Loh, Ne Ron ^a,b   Appleton, Donald Barry ^a  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b ROYAL UNITED HOSPITAL   (United Kingdom)

Author keywords

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

Indexed keywords

ACUTE BRAIN DISEASE; ACUTE NECROTIZING ENCEPHALOPATHY; ARTICLE; CASE REPORT; CAUCASIAN; CEREBROSPINAL FLUID ANALYSIS; CHILD; CLINICAL FEATURE; COGNITION; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; RANBP 2 GENE; RECURRENT DISEASE;

CHILD, PRESCHOOL; ELECTROENCEPHALOGRAPHY; EUROPEAN CONTINENTAL ANCESTRY GROUP; HUMANS; LEUKOENCEPHALITIS, ACUTE HEMORRHAGIC; MAGNETIC RESONANCE IMAGING; MALE; MOLECULAR CHAPERONES; MUTATION, MISSENSE; NUCLEAR PORE COMPLEX PROTEINS; RECURRENCE;

EID: 77956187456     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-010-1213-8     Document Type: Article

References (11)

1. AD Gika P Rich S Gupta, et al. 2010 Recurrent acute necrotizing encephalopathy following influenza A in a genetically predisposed family Dev Med Child Neurol 52 1 99 102 10.1111/j.1469-8749.2009.03405.x 19811512
2. JH Kim I Kim MK Lim, et al. 2004 Acute necrotizing encephalopathy in Korean infants and children: imaging findings and diverse clinical outcome Korean J Radiol 5 171 177 10.3348/kjr.2004.5.3.171 15467414
3. A Kirton K Busche C Ross E Wirrell 2005 Acute necrotizing encephalopathy in Caucasian children: two cases and review of the literature J Child Neurol 20 527 15996405
4. R Manara M Franzoi P Cogo PA Battistella 2006 Acute necrotizing encephalopathy: combined therapy and favorable outcome in a new case Childs Nerv Syst 22 1231 1236 10.1007/s00381-006-0076-9 16816978
5. SD Mastroyianni D Gionnis V Konstantinos A Skardoutsou, et al. 2006 Acute necrotizing encephalopathy of childhood in non-Asian patients: report of three cases and literature review J Child Neurol 21 872 10.1177/08830738060210101401 17005104
6. M Mizuguchi 1997 Acute necrotizing encephalopathy of childhood: a novel form of acute encephalopathy prevalent in Japan and Taiwan Brain Dev 19 2 81 92 10.1016/S0387-7604(96)00063-0 1:STN:280:DyaK2s3lvFGmsA%3D%3D 9105653
7. M Mizuguchi J Abe K Mikkaichi, 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 10.1136/jnnp.58.5.555 1:STN:280:DyaK2M3msVWgsw%3D%3D 7745402
8. DE Neilson MD Adams C Orr, 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 10.1016/j.ajhg.2008.12.009 1:CAS:528:DC%2BD1MXpsFakuw%3D%3D 19118815
9. DE Neilson HS Feiler KC Wilhelmsen, et al. 2003 Autosomal dominant acute necrotizing encephalopathy Neurology 22 61(2) 226 230
10. A Okumura M Mizuguchi H Kidokoro, et al. 2009 Outcome of acute necrotizing encephalopathy in relation to treatment with corticosteroids and gammaglobulin Brain & Dev 31 3 221 7 10.1016/j.braindev.2008.03.005
11. C Troedson D Gill R Dale 2008 Emergence of acute necrotising encephalopathy in Australia J Paediatr Child Health 44 10 599 601 10.1111/j.1440-1754.2008.01390.x 19012634