A case of tuberous sclerosis - presenting as febrile seizures with status epilepticus
DOI:
https://doi.org/10.18203/2349-3291.ijcp20160178Keywords:
Tuberous sclerosis complex, Hamartin, Tuberin, Developmental delayAbstract
Tuberous sclerosis or Tuberous Sclerosis Complex (TSC) is an autosomal dominant disease which comes under a group of diseases known as Neurocutaneous syndromes or phakomas. Incidence of TCS is around 1 in 6000. It is characterized by the growth of numerous hamartomas in several organs including the brain, heart, skin, eyes, kidney, lung and liver. The affected genes are TSC1 and TSC2 encoding hamartin and tuberin respectively. Here, we are presenting a case of 2 year old male child born of a non-consanguineous marriage admitted in the pediatrics emergency ward with the history of fever since one day and continuous convulsions since past one hour GTCS type. Mother also gave history of recurrent attacks of convulsions since 9 months of age. 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 autism.
References
Burns T, Breathnach S, Cox N, Griffiths C. Tuberous Sclerosis complex In Rooks text book of Dermatology, Volume 1 Massachusetts Blackwell science. 2004;355:1345-56.
Finkelstein R. Advances in tuberous sclerosis complex research: the October 1, 2003, Child Neurology Society Work shop. J Child Neurol. 2004;19:734-5.
AU KS, Williams AT, Gambello MJ, Northrup H. Molecular genetic basis of tuberous sclerosis complex: from bench to bedside. J Child Neurol. 2004;19:699-709.
Crino PB. Molecular pathogenesis of tuber formation in tuberous sclerosis complex. J Child Neurol. 2004;19:716-25.
Hurst JS, Wilcoski S. Recognizing an Index Case of Tuberous Sclerosis. Am Fam Physician. 2000;61:703-8.
Schwartz RA, Fernández G, Kotulska K, Jóźwiak S. Tuberous sclerosis complex: advances in diagnosis, genetics and management. J Am Acad Dermatol. 2007;57:189-202.
Gupta S, Bhowate R, Degwekar SS. Clinical and radiological findings related to tuberous sclerosis complex: a case report. J Contemp Dent Pract. 2008;9:85-91.
Cheng TS. Tuberous sclerosis complex: an update Review Article. Hong Kong J Dermatol Venereol. 2012;20:61-7.
Roach E, Sparagana S. Diagnosis of Tuberous Sclerosis Complex. J Child Neurol. 2004;19:643
Sögüt A, Ozmen M, Sencer S, Caliskan M, Aydinli N, Ertugrul T, et al. Clinical features of tuberous sclerosis cases. Turk J Pediatr. 2002;44:98-101.
Curatolo P, Seri S. Seizures. In: Curatolo P eds. Tuberous sclerosis complex: from basic science to clinical phenotypes. London:McKeith Press. 2003:46-76.
de Vries PJ, Gardiner J, Bolton PF. Neuropsychological attention deficits in tuberous sclerosis complex (TSC). Am J Med Genet A. 2009;149A(3):387-95.
Hancock E, Osborne JP. Vigabatrin in the treatment of infantile spasms in tuberous sclerosis: literature review. J Child Neurol. 1999;14:71-4.
