1 - Serviço de Oftalmologia, Centro Hospitalar Universitário de Lisboa Central
2 - Serviço de Oftalmologia, Hospital Cuf de Cascais, Cascais, Portugal
3 - NOVA Medical School|Faculdade de Ciências Médicas da Universidade Nova de Lisboa
- Publicação em versão integral na revista BMJ case reports
Resumo:
Introduction: Acute necrotizing encephalopathy (ANE) is a rare disease that corresponds to a rapidly progressive encephalopathy induced by a viral infection. It is frequently associated with a mutation on the RAN-binding protein 2 (RANBP2) gene, with autosomal dominant transmission, this form being called ANE1. We present a clinical case of ANE1 in a patient with RANBP2 mutation with neuro-ophthalmological sequels.
Case report: A 5-year-old boy, who had a clinical picture of fever, cough and nasal obstruction with 3 days of development, aggravated by drowsiness and prostration with a stiff neck on the third day was transferred to our institution. Due to the severity of the clinical picture he was hospitalized with a diagnosis of meningoencephalitis. Complementary diagnostic tests showed positivity for the influenza A virus on the PCR of the nasal secretions. MRI showed aspects compatible with acute necrotizing encephalitis/encephalopathy. He was treated with oseltamivir and intravenous immunoglobulin followed by corticosteroid therapy, with subsequent improvement of the clinical picture, and he was discharged after 16 days. Ophthalmologic observation during hospitalization was not conclusive. During ambulatory follow-up, a mutation was detected on the RANBP2 gene and, at ophthalmological level, bilateral peripheral constriction on the campimetry and a very significant reduction of the nerve fiber layer on both optic nerves was reported. These changes remained stable for over 2 years.
Conclusion: This case contributes to the enrichment of the neuro-ophthalmological literature and expands the spectrum of sequelae of this rare entity in the caucasian population.
Palavras Chave: necrotizing encephalopathy, RANBP2