Authors: Valliammai Valliyappan, Ashok Veerappan, Nishkkriyaa Gopal.
ABSTRACT
Tuberous sclerosis complex (TSC) is a rare, multisystem genetic condition marked by the development of benign tumours in multiple organs. TSC is the second most common neurocutaneous disorder and is inherited in an autosomal dominant pattern, although the rate of spontaneous mutation is high. Although the condition is often identified in paediatric neurology settings, the first clues can emerge in primary care. This case report describes the presentation, diagnosis, and initial management of a child with TSC in a general practice, highlighting the pivotal role of primary care in recognising early signs and initiating multi-disciplinary care.
Keywords: Genetic disorder, hypopigmented macules, paediatric epilepsy, primary care, seizures, tuberous sclerosis.
Citations: IeJSME 2025 Vol 19 (2): 43-46