Article ; Online: Tuberous Sclerosis
Journal of Clinical and Diagnostic Research, Vol 14, Iss 2, Pp OD14-OD
A Rare Cause Section of Seizure in an Older Adult
2020 Volume 16
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 ... ...
| 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. |
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| Keywords | adenoma sebaceum ; genetic disorder ; hypopigmented skin lesions ; mtor ; phakomatosis ; Medicine ; R |
| Language | English |
| Publishing date | 2020-02-01T00:00:00Z |
| Publisher | JCDR Research and Publications Private Limited |
| Document type | Article ; Online |
| Database | BASE - Bielefeld Academic Search Engine (life sciences selection) |
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