Background: Ring chromosome 18 (r[18]) is a rare syndrome in which one or both ends of chromosome 18 are lost and the remaining chromosome rejoins to form ring-shaped figures. It is characterized by developmental delay/cognitive disability, facial dysmorphisms, and immunological problems. The phenotype associated with epilepsy is rare and has not yet been reported in China.
Methods: We report herein the case of a 12-year-old Chinese girl who presented with typical facial dysmorphisms, developmental delay, cognitive disability, hyperactivity, and epilepsy and discuss the clinical features of r(18) syndromes through comparison with previously described cases worldwide.
Results: We describe the characteristics of all seizures that have been reported in these cases and propose that the appearance of epilepsy in r(18) patients may be associated with the abnormality of chromosome karyotypes. Further studies are warranted to confirm this.
Keywords: Chromosome karyotypes; Epilepsy; Ring chromosome 18; Seizure.
© 2021. Fondazione Società Italiana di Neurologia.