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2020 Month : March Volume : 9 Issue : 9 Page : 697-699

An Undiagnosed Case of Epilepsy for 13 Years Presenting in Status Epilepticus.

Bhabani Sankar Dhal1, Anupam Dutta2, Ajit Kumar Pegu3, Srimanta Madhab Baruah4, Chayanika Dutta5

Corresponding Author:
Dr. Bhabani Sankar Dhal,
2nd Year PGT,
Department of Medicine,
Assam Medical College,
Dibrugarh, Assam, India.


Epilepsy, one of the most common neurological diseases globally is a chronic non-communicable disease that affects people of all ages. Around 50 million people worldwide are suffering from epilepsy at present. The risk of premature death is up to three times higher than that of general population. Up to 70% of the people living with epilepsy could live seizure- free if properly diagnosed and treated.[1] General examination is more often missed in an epilepsy patient or seizure disorder patient, but unfortunately it plays an important role when diagnosis is concerned. Here we mention a case report of 14 year old girl suffering from epilepsy, who remains undiagnosed for 13 years with characteristics clinical and radiological features of Tuberous sclerosis.

Tuberous sclerosis is a type of true phakomatoses (congenital neuroectodermoses). As the name suggests it mainly affects the CNS and cutaneous system. It is characterised by development of benign tumours affecting brain, skin, retina, visceras and cutaneous changes. It is an autosomal dominant disorder but with variable penetrance in which a variety of lesions in the skin, kidney, heart, nervous system and other organs. Bourneville's articles (between 1880- 1900), presented the first systematic features of the disease and related the cerebral lesions to those of skin of the face. It is equally frequent in all the races and in both the sexes.[2] The incidence is estimated to be 1 case per 6000 live birth, with a prevalence of 1 in 10,000 births.[3] The mutation occurs either in one of the two sites-the long arm of chromosome known as TSC 1 (Hamartin), or in the short arm of chromosome 16 known as TSC 2 (tuberin). Because of mosaicism approximately 15% of sporadic cases show no identifiable mutation and tend to have milder manifestations. In a study conducted on 325 TSC individuals, 17% of the mutations were found in the TSC1 gene, 50% in the TSC2 gene, 4% unclassified variants, and 29% with no identifiable mutations.[4] The disease is basically a triad of epilepsy, developmental delay and adenoma sebaceum known as ″EPILOIA″.[2] Here we present a case report of 14 year old female patient with clinical and radiological features of TSC.

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