PURA syndrome is a severe neurodevelopmental disorder named after its causative gene, the purine-rich element-binding protein A gene. It is characterized by neonatal hypotonia, feeding and respiratory problems during infancy, global developmental delay, with or without seizures. Although a variety of movement disorders have been observed in some of these patients,they were less systematically investigated. Herein, we report on a pediatric patient with PURA syndrome featuring multiple types of involuntary movements during school age.
Date:
2021-07
Relation:
Movement Disorders Clinical Practice. 2021 Jul 8;8(7):1137-1139.
