Tuberous sclerosis complex in the Western Cape, South Africa: The clinical presentation features

Abstract

Tuberous sclerosis complex (TSC) is a genetic neurocutaneous condition, which affects multiple organ systems. This study aimed to determine the presenting features of children with TSC in Cape Town, South Africa. A cross-sectional study was conducted at a TSC clinic, and clinical features at presentation were prospectively collected. Thirty-nine children (23 boys; median age 10 (range 1 - 26) years; median diagnosis age 16 (0 - 153) months) were recruited. Twenty-one (54%) children presented with focal seizures. Seven (18%) children had epileptic spasms. Skin manifestations led to a diagnosis in 13 (33%) and neuroimaging in 22 (56%) children. Antenatal screening detected cardiac rhabdomyomas in 3 children. One child had a positive family history. In the paediatric service, TSC diagnosis usually followed neuroimaging, whereas at the neurology service skin manifestations indicated TSC. In conclusion, most children with TSC presented as emergency cases with seizures. Health practitioner awareness of the common TSC clinical signs was lacking, with the diagnosis often delayed.