BRD4 genotype of cornelia de lange syndrome resistant to typical anti-epileptics

Cornelia de Lange syndrome (CdLS), a rare congenital disorder, is estimated to occur in approximately 1 in 10,000 to 1 in 30,000 live births, and there's no specific data on its incidence in India, but it's believed to be a global condition with no racial predilections. As mild cases of CdLS often are not reported, the incidence and prevalence are probably underestimated. Presently, the estimated incidence in the United States has been reported between 1 per 10000 to 1 per 50000 newborns. The disorder affects males and females equally due to a dominant genetic pattern(1). Epilepsy manifested between age 6 months and 16 years. The majority of patients (64.3%) presented with seizures and interictal EEGs mainly revealed focal epileptic paroxysms involving temporal and parietal areas. The majority of the seizures were controlled by Sodium Valproate monotherapy. Otherwise monotherapy with topiramate, levetiracetam, carbamazepine and oxcarbazepine is also effective in controlling seizures. CdLS is a developmental disorder that affects many parts of the body. The features of this disorder vary widely among affected individuals and range from relatively mild to severe. There are various genetic variations that contribute to CdLS. • NIPBL gene (Chromosome 5p13.2) – is the most common cause (60-70%) • SMC1A gene (X chromosome, Xp11.22) – accounts for 5-10% of cases. • SMC3 gene (Chromosome 10q25) – A rarer autosomal dominant cause. • RAD21 gene (Chromosome 8q24.11) – a milder form of CdLS. • BRD4 gene (Chromosome 19p13.12) – rare contributor to CdLS. In this particular case we have discussed the presentation, management, investigation, finding, diagnosis of gene mutation BRD4 related CdLS in a girl 5years old.