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Ana Pereira Lemos1, Rita Lopes Silva2, José Pedro Vieira2, Maria João Brito1

1- Unidade de Infecciologia, Área de Pediatria Médica, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisboa
2- Unidade de Neuropediatria, Área de Pediatria Médica, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisboa

- 11th Excellence in Pediatrics Conference

Introduction: Acute necrotizing encephalopathy (ANE) is a severe neurological disorder seen almost exclusively in previously healthy children of East Asia. It is characterized by rapid neurologic deterioration secondary to a virus-associated febrile illness and imagiologically diagnosed by symmetric multifocal thalamic lesions. Regardless the treatment, comorbidities are frequent and the outcome can be devastating.
Case description: A previously healthy 2-year-old male toddler presented with high fever, cough, upper limb tremor and gait ataxia, rapidly evolving to neurologic deterioration, drowsiness and bradycardia and thus requiring intensive care. Blood work including complete blood cell count, C reactive protein, erythrocyte sedimentation rate, aminotransferases, ammonia and lactate was normal and toxicology screen was negative. Respiratory virus PCR positive for rhinovirus and negative for Influenza A and B. LP revealed pleocytosis with predominant mononuclear cells, normal glucose and mildly elevated protein levels, with sterile CSF cultures and negative neurotropic virus’s PCR. There were no oligoclonal bands or intrathecal synthesis of immunoglobulins. The EEG showed irregular and slow activity, encephalopathic, and brain MRI bilateral thalamic lesions. He was admitted with the clinical diagnosis of ANE under ceftriaxone and methylprednisolone 30 mg/kg/day. Due to persistent altered mental status, aphasia and dysphagia and as biotin-thiamine-responsive basal ganglia disease could not be excluded, these vitamins were initiated. Clinical improvement was noticed after 5 days of daily pulses of methylprednisolone, with full recovery of the ability to swallow and the aphasia. He maintained corticosteroids in the following 6 weeks and 2 months after the diagnosis, he had upper limb action tremor, predominantly on the right, slightly gait asymmetry to the right and ipsilateral babinski. The metabolic evaluation revealed normal amino acids and redox potential. Genetic study of biotin is ongoing.
Conclusions: Concerning a presentation of encephalopathy with rapid evolution, the differential diagnosis with ANE is mandatory. Bilateral thalamic involvement is a distinctive feature. Common etiologic agents include influenza A and B, negative in this case. Differential diagnosis of ANE includes other infectious diseases, toxic, metabolic and inflammatory/vascular CNS disorders. Prognosis is frequently poor. In children without brainstem lesions, improvement in outcome was described particularly when steroids were started within the first 24 hours from onset.

Palavras Chave: acute necrotizing encephalopathy; imaging features; steroids