Tuberous Sclerosis: A Rare Cause of Seizure in an Older Adult
Published: February 1, 2020 | DOI: https://doi.org/10.7860/JCDR/2020/43400.13516
Shubhransu Patro, Pankaj Kumar Khora, Bijay Kumar Sahoo, Debasis Pathi
1. Professor, Department of Internal Medicine, Kalinga Institute of Medical Sciences, Bhubaneswar, Odisha, India.
2. Assistant Professor, Department of Internal Medicine, Kalinga Institute of Medical Sciences, Bhubaneswar, Odisha, India.
3. Consultant, Department of Internal Medicine, Kalinga Institute of Medical Sciences, Bhubaneswar, Odisha, India.
4. Postgraduate Resident, Department of Internal Medicine, Kalinga Institute of Medical Sciences, Bhubaneswar, Odisha, India.
Correspondence Address :
Debasis Pathi,
Postgraduate Resident, Department of Internal Medicine, Kalinga Institute of Medical Sciences, KIIT University, Bhubaneswar, Odisha, India.
E-mail: debasispathi11@gmail.com
Abstract
Tuberous sclerosis is a rare autosomal dominant genetic disorder caused by mutation of TCS1 or TCS2 gene. The birth incidence is estimated to be 1 in 6000. It is a multisystem neurocutaneous disorder characterised by widespread hamartomas, cutaneous changes and neurological manifestations. It may present as seizures in adult patients and being a rare aetiology, presents a diagnostic challenge to physicians. Here, the authors report a case of a 48-year-old male who presented with recent onset of seizures and subsequently was found to have tuberous sclerosis. He was managed with oral levetiracetam and remained asymptomatic during follow-ups, over a period of two years.
Keywords
Adenoma sebaceum, Genetic disorder, Hypopigmented skin lesions, mTOR, Phakomatosis