Late-onset diagnosis of SHINE syndrome in an adolescent with developmental delay: Case report.

Abstract

Sleep disturbances, hypotonia, intellectual disability, neurological disorders, and epilepsy (SHINE) syndrome is a rare autosomal dominant neurodevelopmental disorder. A mutation in the DLG-4 gene on chromosome 17 causes SHINE syndrome. SHINE are characteristic feature of the disease. This case recounts a 16-year-old female patient who presented with a longstanding history of developmental delay and intellectual disability since the age of two. At various points throughout her childhood, she was diagnosed with pervasive developmental disorder, autism spectrum disorder, attention-deficit hyperactivity disorder, and severe intellectual delay, undergoing extensive testing and imaging. Fourteen years after the initial presentation, additional genetic testing revealed a de-novo mutation in the DLG4 gene, confirming a diagnosis of SHINE syndrome. Due to its characteristic features, SHINE syndrome should be considered part of the differential diagnosis in children with unexplained developmental delays.