Abstract :
Introduction: Tuberous sclerosis complex (TSC) is a rare genetic disease, belongs to the group of the neurocutaneous syndrome. The consequence of genetic mutation is inadequate inhibition of the mammalian target of rapamycin (mTOR) signal pathway that results in the inactivation of regulated cells growth and formation of dysgenic tissues/ hamartomas in multiple systems. The updated version of diagnostic criteria for TSC and management has been laid down after the second International Tuberous Sclerosis Complex Consensus Conference (2012).
Aims: To describe the clinico-neuroradiological profile and aspects of the antiepileptic treatment of “definite” TSC cases
Materials and Methods: We report a case series of four TSC cases attended in a teaching hospital. The “definite” TSC cases are diagnosed by updated diagnostic criteria (2012) and data obtained retrospectively from records. We discuss the present series in light of the current literature.
Result: We report three female and one male TSC patient. The “definite” TSC is diagnosed by two major criteria - one or more cutaneous lesions and neuropathological lesions by neuroimaging. No family history of TSCs has been reported in the series.
Hypomelanotic macules were observed in all (n=4) patients. Two TSC patients (n=2) had facial angiofibroma and one TSC had (n=1) shagreen patch. In neuroimaging studies, subependymal nodules were reported in three TSC patients (n=3) and one TSC had cortical dysplasias.
The most common neurological manifestation in the TCS series is epilepsy; three TSC patients (n=3) had epilepsy. One TSC patient (n=1) did not present with epilepsy. Infantile spasms, tonic-clonic seizure, and focal seizure were the phenotype of seizures. Vigabatrin, valporate, and phenobarbitone have been prescribed in TSC patients. Scholastic performance was normal in one TSC patient (n=1) and subnormal in another patient(n=1).
Conclusion: TSC -associated cutaneous lesions, the major features for diagnosis, develop an agedependant manner. The prospective evaluation with neuroimaging is an integral part of TSC management. Infantile spasm, focal seizure are the first manifested seizures with a subtle presentation. The first-contact physicians must be well knowledgeable about updated 2012 diagnostic criteria, so timely management could be advocated. Vigabatrin is the first choice for infantile spasms in TSC patients as well as for focal seizures. Cognitive outcome/ scholastic performance may vary in TSC patients.
Keyword :
Tuberous sclerosis, Diagnosis, Cutaneous, Features, Epilepsy, Vigabatrin