Which genetic disorder features seizures that begin in infancy, often with infantile spasms and multiple seizure types that can be intractable?

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Multiple Choice

Which genetic disorder features seizures that begin in infancy, often with infantile spasms and multiple seizure types that can be intractable?

Infantile-onset epilepsy with spasms is a hallmark of tuberous sclerosis. Mutations in TSC1 or TSC2 lead to cortical tubers and subependymal nodules that create multiple epileptogenic foci from early life. This results in seizures that begin in infancy, often with infantile spasms and a chaotic EEG pattern (hypsarrhythmia), and a variety of seizure types that can be difficult to control despite treatment. The pattern fits within the broader neurocutaneous syndrome, which also features skin signs such as hypomelanotic “ash leaf” spots and facial angiofibromas, along with other organ hamartomas. Management often includes therapies particularly effective for infantile spasms (such as ACTH or vigabatrin), and targeted treatments like mTOR inhibitors to address the underlying lesion burden.

Infantile-onset epilepsy with spasms is a hallmark of tuberous sclerosis. Mutations in TSC1 or TSC2 lead to cortical tubers and subependymal nodules that create multiple epileptogenic foci from early life. This results in seizures that begin in infancy, often with infantile spasms and a chaotic EEG pattern (hypsarrhythmia), and a variety of seizure types that can be difficult to control despite treatment. The pattern fits within the broader neurocutaneous syndrome, which also features skin signs such as hypomelanotic “ash leaf” spots and facial angiofibromas, along with other organ hamartomas. Management often includes therapies particularly effective for infantile spasms (such as ACTH or vigabatrin), and targeted treatments like mTOR inhibitors to address the underlying lesion burden.

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