What are the key clinical features to consider when diagnosing Tuberous Sclerosis Complex in a child?

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., 1993; Henske 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., 2007; Henske 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 ³.

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., 1993; Henske 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., 1993; Henske 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).