Disclosures: Jennifer Kalbus, MD: No financial relationships or conflicts of interest

Case Diagnosis: Familial Acute Necrotizing Encephalopathy (ANE) with a mutation of the RAN binding protein 2 (RANBP2) gene

Case Description: An 8-year-old boy had a history of ANE, initially diagnosed at age 3 when he had encephalopathy following a viral illness. Magnetic resonance imaging (MRI) of his brain showed acute diffusion restriction including in areas of his brainstem and bilateral thalami, with noted prior insults within the thalami. He had a strong family history of ANE, including in his mother and brother. Genetics evaluation revealed a RANBP2 gene mutation. Over the years, he proceeded to have multiple minor functional regressions following illnesses. Then, he was admitted to the hospital with a major recurrence following influenza B infection at age 7. MRI of his brain showed findings of acute ANE with bilateral diffuse restriction. He was subsequently treated with oseltamivir, 5 days of intravenous (IV) methylprednisolone followed by an oral prednisone taper, and IV immunoglobulin therapy.

Setting: Pediatric Inpatient Rehabilitation (IPR)Assessment/

Results: Following presentations at ages 3 and 7, the patient was admitted to IPR. Both times, the patient made functional gains, but rehabilitation had to be tailored to a new baseline level after each brain insult. Once discharged from the hospital, family weighed risks versus benefits of enrolling the patient in community school and therapies due to the potential serious consequences of contracting a viral illness. An emergency steroid plan was made for the patient in case of ANE.

Discussion: This case demonstrates a rare disease linked with a RANBP2 mutation. It should be considered in the case of recurrent encephalopathy, especially with a family history. Further disease identification and proposed treatment plans will be highlighted via this case.

Conclusion: This case adds to the current limited knowledge of familial ANE linked to RANBP2 gene mutations, and shows the functional implications of recurrence for this patient.

Level of Evidence: Level V

« Back to AAPM&R Annual Assembly 2021

PM&R Meeting Abstracts - https://pmrjabstracts.org/abstract/recurrent-acute-necrotizing-encephalopathy-following-viral-infections-in-a-child-with-a-ranbp2-mutation-a-case-report/