Tuberous sclerosis complex — clinical case

Case summary

This seven-month-old boy presents with the classic onset of tuberous sclerosis complex: clusters of flexor spasms (West syndrome) with developmental regression, hypomelanotic macules on Wood's lamp examination, a hypsarrhythmic EEG, and brain MRI showing cortical tubers and subependymal nodules. He already meets the 2012 consensus criteria for definite TSC through multiple major features, and the immediate priority is prompt control of his infantile spasms, because seizure control is the single most important determinant of developmental outcome. ^[3]