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Table of Contents    
Year : 2021  |  Volume : 69  |  Issue : 5  |  Page : 1475-1476

Tuberous Sclerosis Complex: Are We Prepared For The Paradigm Shift?

1 Child Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
2 Department of Pediatrics, Command hospital (SC), AFMC, Pune, Maharashtra, India

Date of Submission15-Jan-2021
Date of Decision14-Apr-2021
Date of Acceptance25-Jul-2021
Date of Web Publication30-Oct-2021

Correspondence Address:
Sheffali Gulati
Chief, Child Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0028-3886.329565

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How to cite this article:
Anand V, Badal S, Gulati S. Tuberous Sclerosis Complex: Are We Prepared For The Paradigm Shift?. Neurol India 2021;69:1475-6

How to cite this URL:
Anand V, Badal S, Gulati S. Tuberous Sclerosis Complex: Are We Prepared For The Paradigm Shift?. Neurol India [serial online] 2021 [cited 2021 Dec 2];69:1475-6. Available from:


Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome and can affect multiple organ systems. The estimated prevalence of TSC is 8.8 per 1,00,000 population and is supposed to be unaffected by sex or ethnic differences[1]. Except for the recent study by Sudarshan et al., no population-based studies or large observational studies in TSC have been published from India.[2]

We diagnosed 85 cases of TSC from 2015 to 2019, details of which are summarized in [Table 1]. With a handful of clinical trials awaiting the results, management of TSC is about to take a sea change from the current treatment protocols. With the focus shifting toward preventive therapies, we enumerate pertinent practical issues in managing children with TSC.
Table 1: Demographic and clinical profile of children with TSC

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  1. The lack of a national/state level registry prevents the estimation of the true prevalence of TSC in our country. This underestimates the magnitude of this chronic multisystem disease, resulting in vast hidden costs to health care and society. A large retrospective UK study had reported two-fold health expenditure for TSC patients, with renal and neurological manifestations being the major cost drivers.[3]
  2. The concept of surveillance EEGs as frequently as every month in the detection of presymptomatic infants is an emerging entity and likely to be a practice guideline in the future. At present, two multicentric trials assessing the efficacy of vigabatrin in preventing epilepsy in presymptomatic infants with TSC have completed recruitment (PREVeNT, #NCT02849457; EPISTOP, #NCT020987590). The biggest hurdle in initiating preventive therapy in TSC is the failure of early diagnosis due to reasons ranging from ignorance of parents to missing easily identifiable neurocutaneous markers by the clinician.
  3. The uncertain and off-the-shelf availability of vigabatrin in the Indian market is aggravated by the Covid-19 pandemic restrictions. Procuring vigabatrin is a common problem faced by all pediatricians/neurologists countrywide.
  4. The risk of vigabatrin-attributed visual field loss (VAVFL) makes physicians hesitant to initiate vigabatrin. However, upcoming studies show a lesser risk for infants started on vigabatrin.[4] Given the catastrophic consequences of untreated infantile spasms, withholding vigabatrin for fear of VAVFL is definitely not rational.
  5. Following EXIST trials, Everolimus was approved for Drug Refractory Epilepsy (DRE), Subependymal Giant cell Astrocytoma (SEGA), and renal angiomyolipomas in TS. However, its exorbitant cost is presently out of reach for many.
  6. Recently, FDA approved cannabidiol in TSC following GWPCARE6 trial results. In India, the Narcotic Drugs and Psychotropic Substances Act (NDPS), 1985 bans the production and sale of cannabis resin and flowers. Though the national policy encourages research and trials of cultivars of cannabis with low THC (tetrahydrocannabinol), the underlying legalities remain obscure at present. There is an urgent need for revamping the existing laws to support the medicinal use of cannabis, not only for TSC patients but also for other medicinal purposes, majorly epilepsy. It is a well-known fact that parents often resort to off-the-shelf cannabis without any knowledge about dosage or adverse effects and end up with complications.
  7. Genetic testing is many a time not considered essential for proving the diagnosis as TS is usually a clinicoradiological diagnosis. The need may be discussed with parents if planning future pregnancy.

The neurological and pediatric societies should work hand in hand for addressing these urgent issues.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

O'Callaghan FJ, Shiell AW, Osborne JP, Martyn CN. Prevalence of tuberous sclerosis estimated by capture-recapture analysis. Lancet 1998;351:1490.  Back to cited text no. 1
Sudarshan S, Kumar A, Gupta A, Bhari N, Sethuraman G, Kaushal T, et al. Mutation spectrum of tuberous sclerosis complex patients in Indian population. J Pediatr Genet. 2020. doi: 10.1055/s-0040-1716495.  Back to cited text no. 2
Kingswood JC, Crawford P, Johnson SR, Sampson JR, Shepherd C, Demuth D, et al. The economic burden of tuberous sclerosis complex in the UK: A retrospective cohort study in the Clinical Practice Research Datalink. J Med Econ. 2016;19(11):1087–98.  Back to cited text no. 3
Gaily E, Jonsson H, Lappi M. Visual fields at school-age in children treated with vigabatrin in infancy. Epilepsia 2009;50:206-16.  Back to cited text no. 4


  [Table 1]


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