Dados do Trabalho

Título

Acute Necrotizing Encephalopathy: Case report

RESUMO

Case
We describe a case of acute necrotizing encephalopathy in a 3-year-old boy. His father has been previously diagnosed with encephalitis at age four. The patient case started with epileptic seizures time-locked to several viral infections. The first seizure happened at 1 year, two days after the onset of fever. He followed up with several hospitalizations for convulsive crises, always preceded by fever. He was diagnosed with febrile seizures. At the age of 2 years and 6 months, he was affected by COVID 19, presenting a status epilepticus concomitant with the infection, requiring intubation. Treated with methylprednisolone for five days. Brain MRI with ventricular dilatation, signs of cytotoxic edema and cortical necrosis. Ventriculoperitoneal shunt was performed, and immunoglobulin was sequentially administered for 5 days. Sequencing of the exome was performed showing a probably pathogenic variant in the RANBP2, suggesting the diagnosis of Infection-Induced Acute Encephalopathy Susceptibility (IIA1/ANE1). It was then decided to perform treatment with Tocilizumab, subsequently better controling symptoms, culminating in extubation 4 days after the infusion. The patient is currently 3 years and 9 months old, remains stable, without new infections, relapsing intermittently with drop attacks. There is no motor deficit, only cognitive.

Discussion
The disease hallmark is the presence of a viral infection related to seizures, evidencing multiple symmetrical lesions due to edema and necrosis in the thalamus, cerebellum, brainstem and white matter. The etiology arises from the uncontrolled release of cytokines during a febrile illness. There are a variety of viroses that has been already identified and related to ANE, Influenza A is the most commonly related disease trigger. Most cases are sporadic, but familial cases are associated with mutation in the gene RANBP2. The clinical presentation is characterized by three stages: prodromal (febrile viral infection), acute (encephalopathy, on average 3 days after the beginning of the prodromal phase) and recovery. After recovery, brain lesions may resolve completely or result in atrophy, or hemosiderin deposition.

Final comments
The patient had the classic clinical presentation, confirmed with the exome, despite the absence of the most frequent radiological alteration. The purpose of this report is to draw attention to potentially serious complications in patients with these comorbidities.