An Effective Therapy of Acute Necrotizing Encephalopathy of Childhood: a Case Report

Abstract

Acute necrotizing encephalopathy of childhood is a rare type of encephalopathy characterized by multiple bilateral brain lesions, mainly involving the thalami but also the putamina, internal and external capsules, cerebellar white matter, and the brainstem tegmentum. It is a rare condition; the first case was described in 1995, and many cases have been reported in Asia and in many Western countries. Most cases are sporadic; however, a few cases of recurrent and/or familial episodes have been reported, secondary to mutations in the RANBP2 gene) and other gene mutations that are all responsible of normal mitochondrial functions. Clinically, it is characterized by acute encephalopathy with dramatic neurological deficits/symptoms. The condition usually has a poor prognosis with high morbidity and mortality rates. We report a 5-year-old boy who showed a typical presentation of this rare condition after obtaining the consent of his legal guardians. We demonstrate how the effective combination of immune suppressive therapy with the mitochondrial cocktail during the early course of the disease leads to clinical and radiological improvement.