Acute necrotizing encephalopathy associated with RANBP2 mutation: value of MRI findings for diagnosis and
Esra Sarigecili1, Habibe Koc Ucar2, Cengiz Havali3
1Department of Pediatric Neurology, University of Health Sciences Adana City Training and Research Hospital, Adana, Turkey. sarigeciliesra@gmail.com.
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.
Insights
Acute necrotizing encephalopathy (ANEC) linked to RANBP2 mutations can be fatal. Early MRI diagnosis and prompt treatment are crucial for improving outcomes in this rare, severe neurological condition.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Acute necrotizing encephalopathy (ANEC) is a rare condition presenting as encephalopathy after a febrile illness.
- While often sporadic, ANEC cases can be familial and linked to RANBP2 gene mutations.
- Recognizing specific MRI findings is vital for timely diagnosis and intervention.
Purpose of the Study:
- To present nine pediatric cases of ANEC with confirmed RANBP2 gene variations.
- To correlate clinical presentation, family history, and neuroimaging findings with RANBP2 mutations.
- To evaluate the effectiveness of current treatment strategies for ANEC.
Main Methods:
- Clinical and radiological diagnosis of ANEC in nine pediatric patients.
- Genetic analysis to identify variations in the RANBP2 gene.
- Review of patient history, clinical symptoms, and MRI findings.
Main Results:
- All nine patients presented with encephalopathy post-febrile infection; 44% had a family history of similar attacks.
- Influenza A/B was detected in 78% of cases. Common symptoms included encephalopathy, seizures, and vision problems.
- Characteristic MRI findings (thalamus, external capsule, brainstem involvement) strongly suggested RANBP2 mutation, confirmed by genetic analysis. Despite treatment, three patients (33%) died.
Conclusions:
- RANBP2-associated ANEC can manifest with early or late onset, be recurrent, and have a fatal outcome.
- Early diagnosis, guided by characteristic MRI findings, is critical for potentially altering disease severity.
- Prompt treatment, including antiviral, immunoglobulin, steroids, and plasmapheresis, is essential but does not guarantee survival.
