A case of tuberous sclerosis - presenting as febrile seizures with status epilepticus
Keywords:Tuberous sclerosis complex, Hamartin, Tuberin, Developmental delay
Tuberous sclerosis or Tuberous Sclerosis Complex (TSC) is an autosomal dominant disease which comes under a group of diseases known as Neurocutaneous syndromes or phakomas. Incidence of TCS is around 1 in 6000. It is characterized by the growth of numerous hamartomas in several organs including the brain, heart, skin, eyes, kidney, lung and liver. The affected genes are TSC1 and TSC2 encoding hamartin and tuberin respectively. Here, we are presenting a case of 2 year old male child born of a non-consanguineous marriage admitted in the pediatrics emergency ward with the history of fever since one day and continuous convulsions since past one hour GTCS type. Mother also gave history of recurrent attacks of convulsions since 9 months of age. On thorough clinical evaluation and radiological investigation, he was diagnosed as a case of tuberous sclerosis. This case report emphasizes the importance of complete evaluation of a case presenting with seizures and inclusion of TSC (Tuberous Sclerosis Complex) as a differential diagnosis in children presenting with seizures, developmental delay and autism.
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