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Category: Volume 08 Issue 07 July 2020
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Title: A Case Report on Tuberous Sclerosis Complex

Authors: Gunda Mounika, Juvvadi Sharvani Rao, M.A Wahab Sufiyaan Osmani, Dr Thatikonda Anil Kumar, Dr Kadarla Rohith Kumar

 DOI: https://dx.doi.org/10.18535/jmscr/v8i7.28

Abstract

Tuberous sclerosis complex (TSC) is a rare, multisystem, autosomal dominant neurocutaneous syndrome characterized by tumorigenesis and is associated with neurologic and behavioral abnormalities. The frequency of TSC has been estimated to be 1 in 10,000 live births and is about a third as common as neurofibromatosis type 1. It is clinically characterized by the triad of epilepsy (EPI), intellectual disability (LOI), and adenoma sebaceum. Here we are presenting a 5 years old male child born of a consanguineous marriage brought to the neurophysician after an attack of seizures, from the explanation of his parents the seizures type was confirmed as GTCS lasting for 1-2 minutes involving both upper and lower limbs with eyes rolling upwards and forth from the mouth. Physical examination revealed characteristic skin lesions and imaging reports of brain showed abnormal tubers, together confirmed Tuberous sclerosis Complex. As it is a multisystem disorder, careful clinical observation is essential, patients affected are advised for regular follow up and counselling.

Keyword: Tuberous Sclerosis Complex, Refractory Seizures, Subependymal Nodules.

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Corresponding Author

Dr Thatikonda Anil Kumar

Neurologist, Vijaya Hospital, Karimnagar, India