Abstract
A 18 yr old male patient presented with seizures. 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 mental retardation.
Highlights
Multiple Von Recklinghausen first described tuberous sclerosis in 1862
We here report a case of 18 yr old male who presented with seizures and on evaluation was diagnosed as a case of tuberous sclerosis
MRI BRAIN(PLAIN) tuberum sclerosis with pedunculated tuber extending into ventricle
Summary
Multiple Von Recklinghausen first described tuberous sclerosis in 1862. Desire-magloire Bournville (a French physician) coined the term sclerosetubercuse, from which the name of disease has evolved. Sherlock coined the term EPILOIA tuberous (Epi-epilepsy, Loi-low intelligence, an adenomasebaceum) encompassing the clinical trial of tuberous sclerosis. As manifestations of this disease are variegated in nature, the term tuberous sclerosis is widely used. It is an autosomal dominant inherited disease, being associated with at least two separate chromosomes (TSC found on chromosome 9q34 and TSC on chromosome16p3). Clinical diagnosis is easy when patient presents with classical triad of seizures, mental retardation and adenoma sebaceum. In patient presenting with an incomplete form of tuberous sclerosis, mistakes in the diagnosis are possible. We here report a case of 18 yr old male who presented with seizures and on evaluation was diagnosed as a case of tuberous sclerosis
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