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

Subrata Chakrabarti, Koushik Pan

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.


Keywords


Tuberous sclerosis complex, Refractory seizures

Full Text:

PDF

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.