Infantile spasms and developmental epileptic encephalopathy — branching viva

Opening framework

My framework has four layers. First, the diagnosis: this six-month-old with clustered flexor spasms, developmental regression and a chaotic EEG has West syndrome, now called infantile epileptic spasms syndrome, defined by the ILAE 2022 position statement. Second, the mechanism: an immature cortex driven into a hypersynchronous network by a lesion or genetic disturbance, with the CRH stress axis explaining why ACTH and corticosteroids work. Third, the management: a sleep EEG and MRI confirm the syndrome, and first-line therapy turns on whether the cause is tuberous sclerosis — vigabatrin if it is, hormonal therapy if it is not. Fourth, the clock: every week of delay worsens developmental outcome, so this is a neurodevelopmental emergency. ^{[1] [4]}