A severe case of GNAO1-related disorder

Kaylene Freitas, Pediatrics Department, Hospital Central do Funchal, Madeira, Portugal
Fiona Caldeira, Pediatrics Department, Hospital Central do Funchal, Madeira, Portugal
Andreia Forno, Pediatrics Department, Hospital Central do Funchal, Madeira, Portugal
Paulo Sousa, Pediatric Neurology Unit, Pediatrics Department, Hospital Central do Funchal, Madeira, Portugal

Introduction: GNAO1-related disorder or GNAO1-associated epileptic encephalopathy and movement disorder, is a rare neurodevelopmental group of disorders that manifests at a pediatric age with seizures, movement disorder and development delay. Case report: We report the case of a previously healthy female infant who initiated seizures at two months of age. Developmental delay and movement disorders gradually emerged at five months of age. An epilepsy WES-based NGS panel revealed a heterozygous pathogenic variant (c.607G>A p.(Gly203Arg)) in the GNAO1 gene. At the age of three, the patient suffers daily seizures, has dyskinesia, global hypotonia, poor interaction and does not communicate verbally. Discussion: GNAO1-related disorder should be considered in patients with global developmental delay, hypotonia, epilepsy and/or movement disorder. Despite there being few reported long-term outcomes, this variant appears to be severe and has a poor prognosis. Early recognition is important for adequate multidisciplinary and family management.

Keywords: Epilepsy. Movement disorder. Developmental delay. GNAO1 variant. Case report.