Bipolar Disorder in Tuberous Sclerosis Complex: A Case Report

Abstract

Tuberous sclerosis complex (TSC) is a rare autosomal dominant neurocutaneous disorder characterized by benign hamartomas in multiple organs, particularly the brain, skin, kidneys, and heart. Neuropsychiatric manifestations such as seizures, cognitive impairment, autism spectrum disorder, and anxiety are common, with bipolar disorder (BD) rarely reported, only five cases in published literature to the best of our knowledge. Neuroimaging is crucial, revealing cortical tubers and subependymal lesions. Early identification of neuropsychiatric features improves long-term outcomes, and case reports highlight diverse presentations. A young patient presented with recurrent seizures and manic symptoms. Clinical examination showed dermatological signs suggestive of neurocutaneous syndrome. Brain magnetic resonance imaging demonstrated multiple cortical/subcortical lesions in bilateral frontoparietal, temporal, and occipital lobes, hyperintense on T2/fluid attenuated inversion recovery and iso- to hypointense on T1, with blooming on susceptibility-weighted imaging, consistent with cortical tubers. Subependymal nodules along lateral ventricles were T2 hypointense without diffusion restriction. Diagnosis of BD and TSC was confirmed clinically and radiologically. Treatment involved pharmacological therapy (e.g., mood stabilizers considering seizures), with multidisciplinary follow-up for systemic involvement.

This case emphasizes recognizing rare occurrence of BD in context of TSC in patients with seizures, neurocutaneous findings, and affective symptoms. Thorough neuropsychiatric history and prompt neuroimaging enable timely diagnosis, management, and surveillance for complications, enhancing outcomes.