Tuberous sclerosis in a young child: A case report

Abstract

Tuberous sclerosis complex (TSC) is a multisystem genetic disorder characterised by dysregulation of the mammalian target of rapamycin (mTOR) pathway, leading to hamartoma formation in multiple organs. Early neurological manifestations, particularly seizures, are common but may present with atypical features, leading to diagnostic delays. We report a 2-year-old child presenting with early head drop episodes initially suggestive of epileptic drop attacks, later evolving with features concerning for epileptic encephalopathy. Neuroimaging revealed cortical tubers and subependymal nodules, and genetic testing confirmed a pathogenic TSC1 mutation. A coexisting GABR D gene variant raised considerations regarding seizure susceptibility. The case highlights diagnostic challenges in differentiating seizure types in early childhood, the importance of early recognition of neurocutaneous markers and evolving therapeutic strategies, including antiseizure medications, steroids and emerging targeted therapies such as mTOR inhibitors. Structured long-term surveillance remains essential for optimal outcomes.