Neurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype?

Abstract

This case report describes a 36-year-old female patient with complex neurological symptoms caused by a mutation in the recently described IRF2BPL gene. The phenotypic peculiarities are the relatively late age of onset of the disease and the finding of iron accumulation in the cores of gray matter, which has not been described so far.

Keywords

• IRF2BPL
• Brain iron accumulation
• Epileptic encephalopathy
• Dystonia
• Ataxia