Cornelia de Lange syndrome associated with ASD and epilepsy: a case report

Case presentation: 4 year-old male, diagnosed with Cornelia de Lange syndrome (CdLS). Born preterm at 35 weeks of gestation, the baby weighted 1670 kg and remained in ICU for 25 days. At 1 year age he presented a cephalic perimeter 44cm (microcephaly), horizontal nystagmus extreme lateral gaze, slow saccades, hypertonia hyperreflexia on all four limbs dysmorphic features (hypertelorism, wide nose base, thin lips, microcephaly webbed neck). The patient has been 3rd degree Autism Spectrum Disorder (ASD) due to speech apraxia, low socialization, psychomotor agitation, interest playing activities, self-regulation repetitive behavior. first convulsion happened July 2022 eye paralysis, 2 minute-long cyanosis Todd's paresis postictal right. After 15 days had new tonic clonic seizure central cyanosis, sialorrhea ocular version, lasting less than minutes. Presented right upper limb paralysis Genetic examination identified SMC3 (10q25.2) alteration unknown variant.