When considering a diagnosis of Tuberous Sclerosis Complex (TSC) in a child, it is crucial to evaluate a range of clinical features across multiple organ systems, as TSC is a genetic, multisystem disorder Adam et al. 1993Henske et al. 2016.
Neurological manifestations are frequently prominent and include epilepsy, often presenting as infantile spasms, alongside developmental delay or intellectual disability Au et al. 2007Henske et al. 2016. The presence of new-onset seizures or unexplained developmental delay in a child should prompt consideration of underlying neurological conditions, including TSC NICE NG127.
Cutaneous features serve as key diagnostic indicators Adam et al. 1993. These can include hypomelanotic macules, commonly known as ash-leaf spots, which are often present from birth or early infancy Adam et al. 1993. Facial angiofibromas typically emerge later in childhood, while shagreen patches and ungual fibromas are other potential skin findings Adam et al. 1993Henske et al. 2016.
Other significant features to consider involve various organ systems, such as renal angiomyolipomas, cardiac rhabdomyomas (which may be detected prenatally or in infancy), and retinal hamartomas Adam et al. 1993Henske et al. 2016. The likelihood of a TSC diagnosis increases with the presence of multiple characteristic features across different organ systems Au et al. 2007.
Key References
- NG12 - Suspected cancer: recognition and referral
- NG143 - Fever in under 5s: assessment and initial management
- NG127 - Suspected neurological conditions: recognition and referral
- (Au et al., 2007): Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.
- (Adam et al., 1993): Tuberous Sclerosis Complex.
- (Henske et al., 2016): Tuberous sclerosis complex.