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Título

CORNELIA DE LANGE SYNDROME ASSOCIATED WITH ASD AND EPILEPSY: A CASE REPORT

Apresentação do caso

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 behaviour. 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.

Discussão

CdLS is a rare genetic condition that presents with intrauterine growth restriction, intelectual disabilities, craniofacial and upper limbs abnormalities and hirsutism. GI tract or genitourinary malformations, pyloric stenosis, diaphragmatic hernia and cardiac defects may also happen. Etiology is mainly attributed to variants that affect coesin protein complex’s functions. Variants at the NIPBL coesin regulator are responsible for 70% of cases. Other subunits/regulators of this complex (SMC1A, SMC3, RAD21 and HDAC8) are responsible for 10 to 15% of cases. Association between CdLS e ASD is rare. In comparison to patients with isolated ASD diagnosis, patients with CdLS can present lower intensity repetitive behaviour, less dificulty in maintaining eye contact and bigger struggles with social interactions and anxiety. Epilepsy may be associated with CdLS at a 14-25% rate. It is also estimated that most cases are associated to SMC1A and NIPBL genes. A series of 14 CdLS and epilepsy case reports, showed that most patients had partial crisis, adequately solved with valproate monotherapy.

Comentários finais

CdLS in association with ASD and epilepsy is extemely rare. This case report shows the importance of early detection of these signs in order to ensure better treatment.

Referências (se houver)

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Fonte de Fomento (se houver)

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Área

Neurogenética