John Libbey Eurotext

Early-onset bradykinetic rigid syndrome and reflex seizures in a child with PURA syndrome Volume 23, numéro 5, October 2021

Vidéo

  • Early-onset bradykinetic rigid syndrome and reflex seizures in a child with PURA syndrome

Illustrations

  • Figure 1
Auteurs
1 Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
2 Child Neuropsychiatry Unit, University-Hospital of Verona, Verona, Italy
3 Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Department of Neuroscience, A. Meyer Children's Hospital, University of Florence, Florence, Italy
4 Center for Research on Epilepsies in Paediatric age (CREP), Verona, Italy
5 Child Neuropsychiatry, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy; Child Neuropsychiatry Unit, University-Hospital of Verona, Verona, Italy; Center for Research on Epilepsies in Paediatric age (CREP), Verona, Italy
* Correspondence: Roberta Solazzi Department of Paediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy

PURA syndrome is a distinct form of developmental encephalopathy, characterized by early-onset hypotonia, severe developmental delay, intellectual disability, epilepsy and respiratory and gastrointestinal disorders. We report a child with PURA syndrome, harbouring a previously described mutation, whose phenotype included two peculiar aspects: (1) hypokinetic-rigid syndrome, which was part of the clinical presentation from an early stage of the disease, and (2) reflex seizures, consisting of a series of spasms. We provide detailed clinical description and video recordings demonstrating both these aspects that are newly described in PURA syndrome. The early clinical features described here may therefore be included in the complex phenotype associated with PURA gene mutations and may help in the early diagnosis of patients. Furthermore, PURA syndrome should be considered in the differential diagnosis of early-onset bradykinetic rigid syndromes.