WOREE syndrome is a rare neurodevelopmental disorder featuring drug-resistant epilepsy and global developmental delay. The disease, caused by biallelic pathogenic variants in the WWOX gene, usually leads to severe disability or death within the first years of life. Clinicians have become more confident with the phenotypic picture of WOREE syndrome, allowing earlier clinical diagnosis. We report a boy with a peculiar clinic-radiological pattern supporting the diagnosis of WOREE syndrome.
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome
Riva, Antonella;Nobile, Giulia;Giacomini, Thea;Scala, Marcello;Balagura, Ganna;Accogli, Andrea;Romano, Ferruccio;Tortora, Domenico;Scudieri, Paolo;Baldassari, Simona;Musante, Ilaria;Salpietro, Vincenzo;Nobili, Lino;Striano, Pasquale;Mancardi, Maria Margherita;Zara, Federico;Iacomino, Michele
2022-01-01
Abstract
WOREE syndrome is a rare neurodevelopmental disorder featuring drug-resistant epilepsy and global developmental delay. The disease, caused by biallelic pathogenic variants in the WWOX gene, usually leads to severe disability or death within the first years of life. Clinicians have become more confident with the phenotypic picture of WOREE syndrome, allowing earlier clinical diagnosis. We report a boy with a peculiar clinic-radiological pattern supporting the diagnosis of WOREE syndrome.
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