On the edge—A diagnostic odyssey

Abstract

Abstract The diagnostic odyssey of a child with epileptic encephalopathy was resolved by rapid whole genome sequencing. This identified a rare form of pyridoxine responsive epilepsy due to a pathogenic variant in PLPBP. Access to such potentially life‐changing diagnostic technology needs to expand in a thoughtful and equitable manner.

Keywords

• diagnostic odyssey
• narrative medicine
• PLPBP
• pyridoxine responsive seizures