We present a case of a 36-year-old female patient with a rare genetic disorder (ANE1: Acute Necrotizing Encephalopathy due to a RANBP2 mutation) who presented with an acute quadriplegia.
Both the patient and her mother, who had also had postviral polyneuritis in the past, harbour a mutation in Ran-binding protein 2 (RANBP2); this occurred de novo in the mother and confers genetic susceptibility to ANE.
Missense mutations in RANBP2 cause the majority of familial and recurrent ANE cases, but other single-gene causes of ANE are possible for familial, recurrent, and sporadic cases.
We report the early use of tocilizumab, a monoclonal antibody against the interleukin 6 receptor, in three patients (aged five, eight, and 10 years) with severe acute necrotizing encephalopathy.
The early use of interleukin 6 blockade in acute necrotizing encephalopathy is safe and may have a role in improving outcomes and preventing disability.