ICNC Abstracts, ICNC 2018

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The Clinical Profile of Tuberous Sclerosis Complex: A Retrospective Cohort Study in A Tertiary Care Hospital In Bangladesh
Md Mizanur Rahman, Kanij Fatema

Last modified: 2018-09-09

Abstract


Background: Tuberous Sclerosis Complex (TSC) is a multi-system genetic disorder characterized by the development of benign growths and diverse clinical manifestations, varying in severity, age at onset and with high clinical burden.

 

Objective: This retrospective study aims to describe the broad spectrum of clinical manifestation profiles in a representative cohort of TSC patients in Bangladesh in order to better understand disease complexity.

 

Methods: TSC patients attending the indoor and outdoor of the centre were retrospectively identified between January 2012 and April 2018. Available history was extracted for each patient and clinical diagnosis, procedure and medication records reviewed.

 

Result: Seventy patients with a mean (SD) age of 5.64+3.96 years were identified, 57.1% were female. Primary organ involvement were brain (structural) 100%, dermatological 100%, cardiac 5.7%, renal 2.9%, eye 2.9%, gastrointestinal 1.4%. Epilepsy was present in 94.3%, generalized epilepsy in 45.7%, focal in 27.1% and west syndrome in 17.1%.  Most of the children had seizure onset in less than 6 months (37.1%). While 47.1% had psychiatric disorder most common being attention deficit hyperactivity disorder (17.1%). Early onset of seizure was associated with increased psychiatric manifestation.  More than half of the children had delay in development.  In neuroimaging half of the children (50%) had both subependymal nodules and cortical tuber. In follow up the commonest morbidity was epilepsy (32.9%).

 

Conclusion: Multisystem involvement is common in TSC, thus target organ screening is important.


Keywords


Tuberous Sclerosis complex, epilepsy

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