An 18 year old man presenting with seizures was found to have hypomela
notic macules and a cardiac rhabdomyoma. These features suggested a di
agnosis of tuberous sclerosis (TS) but there were no other clinical si
gns, no family history and cranial imaging failed to reveal the charac
teristic appearances. The diagnostic criteria for TS are reviewed and
the importance of thorough clinical examination and appropriate invest
igation in this disease is stressed