A female patient, nine years of age, is reported with a history characterized by delay of psychomotor and speech development, mild to moderate intellectual disability and persistent sleep disturbances since the age of two. The patient showed facial dysmorphisms, a pectus excavatum and a sandal gap. Apart from lowered intelligence, neuropsychological functioning disclosed impaired attentional capacities and executive control as well as weak motor skills. Genome wide SNP array analysis revealed a 3.57 Mb . de novo microdeletion in band q12.3 of chromosome 8. The long lasting sleep disorders turned out to originate from a rare juvenile epilepsy, continuous spike-waves during slow sleep (CSWS) syndrome, that includes the electrical status epilepticus in sleep (ESES) phenomenon. MRI-scanning of the brain showed no abnormalities.To the authors knowledge, this is the first report of a . de novo 8q12.3q13.2 microdeletion syndrome that presents with ESES/CSWS.

8q12.3q13.2, CSWS, De novo microdeletion, Dysmorphic features, Epilepsy, ESES, Intellectual disability, Neuropsychological dysfunction, SNP array
dx.doi.org/10.1016/j.ejmg.2011.10.005, hdl.handle.net/1765/68615
European Journal of Medical Genetics
Department of Psychiatry

Verhoeven, W.M.A, Egger, J.I.M, Feenstra, I, & de Leeuw, N. (2012). A de novo 3.57 Mb microdeletion in 8q12.3q13.2 in a patient with mild intellectual disability and epilepsy. European Journal of Medical Genetics, 55(5), 358–361. doi:10.1016/j.ejmg.2011.10.005