Delayed diagnosis of tuberous sclerosis complex in adulthood presenting as refractory epilepsy: a case report

Abstract

Case Presentation: We report a 34-year-old male with a history of significant neurodevelopmental delay, predominantly affecting language, associated with long-standing drug-resistant epilepsy. The patient was admitted due to status epilepticus. Brain computed tomography revealed multiple intracranial lesions consistent with cortical and subependymal tubers involving the lateral ventricles and posterior fossa. Based on clinical and neuroimaging findings, a diagnosis of Tuberous Sclerosis Complex was established. Improved seizure control was achieved after initiation of combined therapy with carbamazepine, levetiracetam, and clobazam. Discussion: Tuberous Sclerosis Complex is an autosomal dominant multisystem genetic disorder characterized by hamartomatous lesions affecting the brain, skin, kidneys, and heart. It is caused by mutations in the TSC1 or TSC2 genes, leading to dysregulation of the mTOR pathway and abnormal cell proliferation. Clinical manifestations are highly variable, which may delay diagnosis, especially in patients with predominantly neurological features. Neurological involvement commonly includes epilepsy, cognitive impairment, and neurodevelopmental delay. Cortical tubers are strongly associated with epilepsy, which may be refractory in a significant proportion of patients. Although the condition is usually diagnosed in childhood, delayed diagnosis may occur, particularly in individuals with limited access to healthcare or atypical presentations. Neuroimaging plays a key role in identifying characteristic lesions. Early recognition allows appropriate management and may improve clinical outcomes. Final Comments: This case highlights the importance of considering Tuberous Sclerosis Complex in adults presenting with drug-resistant epilepsy and neurodevelopmental delay. Delayed diagnosis remains a challenge and may negatively impact patient outcomes. Increased clinical awareness and early use of neuroimaging are essential for timely diagnosis and optimization of treatment strategies.