Neurocutaneous features of tuberous sclerosis complex: A case report from Bangladesh

A rare autosomal dominant disorder, tuberous sclerosis complex (TSC), presents with various symptoms from the beginning. It is characterized by neurological signs such as epilepsy, skin abnormalities, and the development of benign lesions in several organs. This study reviews the literature on different clinical and imaging presentations of TSC and treatment options. Additionally, we report a case in which a young boy presented to an ophthalmologist for an eye checkup and was later found to have TSC. This report aims to raise awareness among clinicians regarding such clinical scenarios.

A 9-year-old boy presented to an ophthalmologist for blurry, distant vision in both eyes.

Based on clinical features and neuroimaging, a diagnosis of TSC was established according to the 2012 International TSC Consensus with 6 primary features but without any secondary features.

The patient was prescribed haloperidol and intravenous diazepam as part of seizure management.

The patient was referred to the neurology department. Initially, his seizure was controlled with anti-seizure medications. But as the patient was lost to follow-up, the long-term effect of anti-seizure medication on seizure control could not be evaluated.

This case report aims to enhance comprehension of the clinical diagnosis to prevent incorrect diagnosis, overlooked diagnosis, and suboptimal treatment.