Recurrent acute hemorrhagic necrotizing encephalopathy associated with RAN-binding protein-2 gene mutation in a
Olutayo Ibukunolu Olubiyi1, Carlos Zamora1, Valerie Jewells1
1Division of Neuroradiology, Department of Radiology, University of North Carolina, Chapel Hill, North Carolina, USA.
Abstract:
A young male child presented with recurrent episodes of seizures and altered mental status following febrile episodes on three separate occasions between his first and third birthdays. Laboratory evaluations identified SARS-CoV-2 infection during the first episode and no infective agents or antibodies in the cerebrospinal fluid during all the episodes. Brain imaging with CT and MRI revealed bilaterally symmetric patchy hemorrhagic necrotic foci in the deep brain nuclei and medial temporal lobes, prompting suspicion for an underlying predisposition to recurrent acute hemorrhagic necrotizing encephalopathy. Gene analysis confirmed a mutation in the RAN-binding protein-2 (RANBP2) gene. The patient made good recovery following treatment with IVIG, steroids and plasmapheresis, and follow-up brain imaging showed no progression of brain lesions. Early suspicion from characteristic imaging features in appropriate clinical settings will inform timely appropriate treatment and better outcome. We therefore provided short review of imaging features of acute hemorrhagic necrotizing encephalopathy.
Insights
A child with recurrent seizures and altered mental status was diagnosed with acute hemorrhagic necrotizing encephalopathy due to a RANBP2 gene mutation. Characteristic brain imaging findings aided early diagnosis and treatment, leading to a good recovery.
Area of Science:
- Pediatric Neurology
- Neuroimaging
- Genetics
Background:
- Recurrent seizures and altered mental status in young children can indicate serious neurological conditions.
- Acute Hemorrhagic Necrotizing Encephalopathy (AHNE) is a rare, severe brain disorder.
- Identifying genetic predispositions is crucial for understanding and managing AHNE.
