A child presented to the casualty with seizures. On examination multiple oval hypo-pigmented macules were noted on the trunk, along with sub-normal IQ. Probable diagnosis of the child is:
Cardinal features :-skin lesions -Hypopigmented macules (ash leaf macules), Sub-normal IQ ( mental retardation ) Seizures point towards a diagnosis of Tuberous sclerosis. MAJOR CRITERIA (AT LEAST 2 NEEDED TO DX) Pulmonary lymphangio leiomyomatosis Ungual fibroma Shagreen patch Hypomelanotic macules (>=3) Cardiac rhabdomyoma Angiomyolipoma of kidney Retinal hamaoma Facial angiofibroma Astrocytoma (giant cell) Subependymal nodules Tubers (coical) Drug of choice for infantile spasms in a child with Tuberous sclerosis is Vigabatrin
Neurofibromatosis
Sturge-Weber syndrome
Tuberous Sclerosis
Incontinentia Pigmenti
Neurocutaneous syndromes