Michaels verpasste genetische Diagnose

Abstract

AbstractMichael, after whom the Michael Foundation is named, had been diagnosed with neonatal-onset refractory epilepsy that challenged numerous epileptologists at the time. The seizures disappeared in adolescence but a neurodevelopmental disorder with intellectual disability remained. Still, to the best of our knowledge, genetic testing was never considered. Facial photographs of Michael potentially containing the clue to his diagnosis had been published multiple times in the past few decades and are known to a broad audience. Michael passed away in 2023 at the age of 80 years. A post-mortem analysis of Michael’s photographs employing both the human eye and artificial intelligence as well as retrospective anamnesis of Michael’s clinical symptoms revealed Williams–Beuren syndrome to be the by far most likely cause of Michael’s disorder. This diagnosis has implications for affected individuals as well as for the family and relatives and therefore illustrates the importance of genetic testing of neurodevelopmental disorders even in older individuals.