An interesting case of tuberous sclerosis without cutaneous manifestations presenting with only neurological features

Authors

  • Subrata Chakrabarti Department of General Medicine, SSKM, IPGMER, Kolkata, West Bengal
  • Koushik Pan Department of General Medicine, SSKM, IPGMER, Kolkata, West Bengal

Keywords:

Tuberous sclerosis complex, Refractory seizures

Abstract

Tuberous Sclerosis Complex (TSC) is a neurocutaneous disorder characterised by hamartoma formation in multiple organs, particularly the skin, brain, eye, kidney and heart. It is rare for TSC to manifest as intractable seizures without cutaneous manifestations. Targeted history elicitation along with appropriate systemic examination backed by proper investigations in high index of suspicion is mandatory to diagnose a case of TSC in such scenario. We report such a case where a 27 year old male was diagnosed with TSC following admission with refractory seizures.

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References

Borkowska J, Schwartz RA, Kotulska K, Joswiak S. Tuberous sclerosis complex; tumours and tumorigenesis. Indian J Dermatol. 2011;50(1):1325-31.

Roach E, Sparagana S. Diagnosis of tuberous sclerosis complex. J Child Neurol. 2004;19:643-9.

Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med. 2006;355:1345-56.

Yates JR. Tuberous sclerosis. Eur J Hum Genet 2006;14:1065-7. Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol. 1998;13:624-8.

Curatolo P, Verdecchia M, Bombardieri R. Tuberous sclerosis complex: a review of neurological aspects. Eur J Paediatr Neurol. 2002;6:15-23.

Thiele EA. Managing epilepsy in tuberous sclerosis complex. J Child Neurol. 2004;19:680-6.

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Published

2017-01-23

How to Cite

Chakrabarti, S., & Pan, K. (2017). An interesting case of tuberous sclerosis without cutaneous manifestations presenting with only neurological features. International Journal of Research in Medical Sciences, 2(2), 769–771. Retrieved from https://www.msjonline.org/index.php/ijrms/article/view/2243

Issue

Section

Case Reports