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Acta Neurologica Belgica

Erschienen in:

26.12.2022 | Original Article

Acute necrotizing encephalopathy associated with RANBP2 mutation: value of MRI findings for diagnosis and intervention

verfasst von: Esra Sarigecili, Habibe Koc Ucar, Cengiz Havali, Ali Cansu, Kursad Aydin

Erschienen in: Acta Neurologica Belgica | Ausgabe 2/2023

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Abstract

Introduction

Acute necrotizing encephalopathy (ANEC) is a rare entity characterized by encephalopathy following a febrile illness. Most patients are sporadic; however, recurrent and familial cases have been associated with RAN-binding protein 2 (RANBP2) mutation. Well-defined MRI findings can even be life-saving with early diagnosis and treatment.

Methods

In this article, nine pediatric cases diagnosed with ANEC1 both clinically and radiologically, and with least one variation in the RANBP2 gene, are presented.

Results

All patients were previously healthy and presented with encephalopathy after an acute febrile infection. The patients of 44% had a similar attack history in their family. Influenza A/B was detected in 7 patients (78%). One patient was admitted at age 32 years old. The first clinical findings of patients were encephalopathy (100%), seizure (44%), vision problems (33%), ataxia (11%), and monoplegia (11%). Recurrent attacks were seen in two (22%) patients. Brain MRI findings including bilateral thalamus, external capsules, and brainstem involvements were highly suggestive for RANBP2 mutation. Based on MRI findings, genetic analyses were quickly performed and confirmed. All of the patients were treated with empirical encephalitis treatment, oseltamivir, intravenous immunoglobulin (IVIG), high-dose steroid and, if necessary, plasmapheresis, but three (33%) patients died despite treatment.

Conclusion

ANEC associated with RANBP2 mutation may occur early or late-onset and can be recurrent and fatal. Therefore, early diagnosis and treatment have the potential to modify the severity of this encephalopathy. Well-defined MRI findings are highly instructive for early diagnosis.

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Titel: Acute necrotizing encephalopathy associated with RANBP2 mutation: value of MRI findings for diagnosis and intervention
verfasst von: Esra Sarigecili
Habibe Koc Ucar
Cengiz Havali
Ali Cansu
Kursad Aydin
Publikationsdatum: 26.12.2022
Verlag: Springer International Publishing
Erschienen in: Acta Neurologica Belgica / Ausgabe 2/2023
Print ISSN: 0300-9009
Elektronische ISSN: 2240-2993
DOI: https://doi.org/10.1007/s13760-022-02166-x

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