Tuberous sclerosis complex — branching viva

Outpatient clinic: a seven-month-old boy with clusters of flexor spasms, developmental regression, three hypomelanotic macules on Wood's lamp examination, and an EEG showing hypsarrhythmia. The examiner asks: what is the diagnosis and which criteria do you apply, what is the molecular basis, how would you explain the diagnosis and recurrence risk to the family, and what is the immediate and long-term management — then branches to a six-year-old with a growing subependymal giant cell astrocytoma abutting the foramen of Monro and asks how you would manage it, and finally to a fetus with an antenatally detected cardiac rhabdomyoma and asks how you would confirm and counsel.