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