European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society · 2026
Familial, recurrent or genetic acute necrotizing encephalopathy of childhood: a systematic review and a case report. Focus on atypical events and on the role on immunizations.
СтатьяСистематический обзорКлинический случайНазвание и аннотация: Перевод в очереди
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Cavaliere Elena, Frasson Liviana, Gasparini Daniele, D'Errico Ignazio, Ancona Claudio, Nosadini Margherita, Sartori Stefano
Аннотация
BACKGROUND: Familial, recurrent or genetic acute necrotizing encephalopathy (F/R/G ANE) is triggered by infections in children with genetic susceptibility. We conducted a systematic review to characterize clinical-neuroradiological features, therapy and outcome of F/R/G ANE in children, and to evaluate vaccination implications.
METHODS: A systematic literature review was conducted in PubMed, Scopus, and Web of Science, adhering to the PRISMA guidelines, and registered in PROSPERO. An institutional case was also described.
RESULTS: Ninety-two patients were analysed (91 literature cases and 1 novel case) (median onset age 24 months; 62% male; RANBP2 mutations in 81% of tested individuals). In total, 142 clinical events occurred in the 92 patients: 108 definite/probable ANE events, and 34 atypical events (25 infection-triggered encehalopathy events without bithalamic involvement, 9 other acute neurological events without bithalamic involvement and encephalopathy). In 13% of patients, atypical episodes preceded a subsequent ANE event. Routine immunization was documented in 18/19 patients pre-ANE and 5/20 resumed vaccination post-ANE (no vaccine-related relapses over a median follow-up of 19 months).
CONCLUSIONS: These findings highlight the central role of RANBP2 variants and the clinical-radiological variability of F/R/G ANE, including atypical pre-ANE events. Limited immunization data support the need for prospective studies to establish safe, prophylactic strategies.
METHODS: A systematic literature review was conducted in PubMed, Scopus, and Web of Science, adhering to the PRISMA guidelines, and registered in PROSPERO. An institutional case was also described.
RESULTS: Ninety-two patients were analysed (91 literature cases and 1 novel case) (median onset age 24 months; 62% male; RANBP2 mutations in 81% of tested individuals). In total, 142 clinical events occurred in the 92 patients: 108 definite/probable ANE events, and 34 atypical events (25 infection-triggered encehalopathy events without bithalamic involvement, 9 other acute neurological events without bithalamic involvement and encephalopathy). In 13% of patients, atypical episodes preceded a subsequent ANE event. Routine immunization was documented in 18/19 patients pre-ANE and 5/20 resumed vaccination post-ANE (no vaccine-related relapses over a median follow-up of 19 months).
CONCLUSIONS: These findings highlight the central role of RANBP2 variants and the clinical-radiological variability of F/R/G ANE, including atypical pre-ANE events. Limited immunization data support the need for prospective studies to establish safe, prophylactic strategies.