Mania in Cornelia de Lange Syndrome: Diagnostic Challenges and the Role of Multidisciplinary Care – A Case Report

Cornelia de Lange syndrome is a rare cohesinopathy characterized by multisystem involvement, intellectual disability, and a distinct behavioural phenotype. Psychiatric comorbidities remain under-recognised. A 28-year-old male with clinically diagnosed Cornelia de Lange syndrome presented to family medicine with progressive aggression, disinhibition, and wandering. Subsequent psychiatric referral revealed a manic episode in the context of severe intellectual disability. Clinical assessment, exclusion of medical contributors, and behavioural history supported a diagnosis of bipolar affective disorder, current episode mania. This case highlights diagnostic overshadowing in genetic syndromes and emphasizes the importance of multidisciplinary evaluation. Recognition of treatable psychiatric disorders in Cornelia de Lange syndrome can significantly improve outcomes.