Tuberous Sclerosis Complex Presenting with Abnormal Body Movements: A Case Series

Abstract

Tuberous sclerosis complex (TSC) is a rare autosomal dominant neurocutaneous disorder characterized by multisystem hamartomatous involvement, most commonly affecting the brain and skin. Neurological manifestations such as seizures and abnormal body movements are frequently the earliest presenting features, while characteristic cutaneous lesions provide crucial diagnostic clues.

We report a case series of three female patients with tuberous sclerosis complex presenting with abnormal body movements and classical dermatological and neuroimaging findings. The first case was a 3-year-old female child with recurrent abnormal body movements and hypomelanotic macules, with MRI brain demonstrating cortical tubers. The second case involved a 16-year-old female presenting with intellectual disability, behavioral abnormalities, abnormal involuntary movements, facial angiofibromas, a shagreen patch, and MRI brain findings of cortical tubers with subependymal nodules. The third case involved an 8-year-old female presenting with recurrent abnormal body movements and seizures, associated with hypomelanotic macules and characteristic MRI brain findings.

These cases highlight the importance of combined neurological, dermatological, and radiological evaluation for early diagnosis and management of tuberous sclerosis complex.

Keywords: Tuberous sclerosis complex; Ash-leaf macules; Facial angiofibromas; Shagreen patch; Cortical tubers; Case series