文摘
Patients with 22q13.3 deletion syndrome present with diverse neurological problems such as global developmental delays, hypotonia, delayed or absent speech, autistic behavior, and epilepsy. Seizures occur in up to one-third of patients with 22q13.3 deletion syndrome; however, only a few reports have provided details regarding the seizure manifestations. The present report describes a patient with 22q13.3 deletion syndrome who presented with late-onset epileptic spasms (ES) and electroencephalography features like Lennox–Gastaut syndrome. An array comparative genomic hybridization analysis revealed that a chromosomal deletion of this patient included SHANK3. To the best of our knowledge, this is the first confirmed case of late-onset ES occur in patients with 22q13.3 deletion syndrome with a SHANK3 deletion.