Mosaic ring chromosome 18 in a Chinese child with epilepsy: a case report and review of the literature

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.

Automated summary

Ring chromosome 18 (r[18]) is a rare syndrome characterized by loss of one or both ends of chromosome 18, resulting in ring-shaped structures. This case report describes a 12-year-old Chinese girl with typical facial dysmorphisms, developmental delay, cognitive disability, hyperactivity, and epilepsy associated with r(18) syndrome. The presence of epilepsy in r(18) patients may be linked to abnormalities in chromosome karyotypes, warranting further studies for confirmation.