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Ade novo357 Mb microdeletion in 8q123q132 in a patient with mild intellectual disability and epilepsy



Ade novo357 Mb microdeletion in 8q123q132 in a patient with mild intellectual disability and epilepsy







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 Mbde novomicrodeletion 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 ade novo8q12.3q13.2 microdeletion syndrome that presents with ESES/CSWS.Female child with intellectual disability and de novo8q12.3q13.2 microdeletion. Referral for developmental delay, disinhibited behaviours, nocturnal awakenings. Deletion size: 3.57 Mb. Persistent sleep disorders due to Electrical Status Epilepticus in Sleep (ESES). 8q12.3q13.2 microdeletion syndrome associated with a rare form of juvenile epilepsy..

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Accession: 036270251

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