Academic Writing: Health and Nutrition

Tuberous Sclerosis Complex (TSC) is a rare disease which affects vital organs throughout the body. Common symptoms include seizures, skin abnormalities, kidney issues, and other organ failure. Developmental and behavioral problems occur in the majority of patients. TSC may be managed through antiepileptic and anticonvulsant medication, surgery, and behavioral therapy. Nutritional intervention is also possible to assist patients with seizure control. The ketogenic diet may be recommended as part of a treatment plan.

Etiology and pathology of the disease

Tuberous Sclerosis Complex, also known as epiloia or Bourneville’s disease, is a rare, neurocutaneous syndrome which affects the brain and other vital organs1,2. Benign tumors throughout the body calcify and become sclerotic. Symptoms of TSC include seizures, developmental delays, behavioral problems, skin abnormalities, and kidney disease. The incidence of TSC in the United States is 25,000-40,000. An estimated one to two million people are affected around the world. TSC is prevalent in 6000 newborns.

Genetic mutations on genes TSC1 and TSC2 lead to the expression of TSC. A mutation on either gene can be present for the disease to be expressed. Although TSC can be a familial disease, it is most often caused by spontaneous mutation. It can also occur through gonadal mosaicism, where a portion of one parent’s reproductive cells contain a genetic mutation without the rest of the body cells being involved1.

Disease progression

Symptoms of TSC often present in the first year of life, though not all clinical features are obvious and the disease may be misdiagnosed, or a diagnosis may be missed entirely. For the purposes of this review, seizures will be the primary focus. Seizures manifest in 79-90% of TSC patients. In the first five years of life, they manifest as infantile spasms. They interfere with neuropsychiatric, social, and cognitive development. Early management can help reduce the consequences of these seizures3.

Current research

Current research into treating TSC includes forays into the TSC1 and TSC2 genes, medications, and surgeries. Nutrition interventions are also being studies1,3.

The Ketogenic Diet (KD) is a high-fat, adequate protein, low carb diet that results in a state of ketosis and mimics the anticonvulsant effects of fasting. It was developed in the 1920s for seizure management and has varied in popularity since that time. The KD may be helpful for patients whose seizures are not well-controlled by medication 3,4.

When the body breaks down fats in the liver and creates ketone bodies, the ketone bodies seem to regulate neuronal and synaptic excitability, which leads to its anticonvulsant effect. The exact mechanism by which the KD is anticonvulsant remains unknown4.

In general, at least 50% of patients treated with KD will exhibit a 50% or great reduction of seizure frequency4. Some early side effects of the KD include acidosis, hypoglycemia, GI distress and lethargy. Some late onset side effects include dyslipidemia, kidney stones, acidosis, stunted growth, and decreased bone density3. A report on the long-term use of the KD stated that 24 of 28 children who were on the diet for more than six years had a 90% reduction in seizure activity. Blood lipid levels were normalizing, but bone strength, kidney stones, and growth rate should continue to be monitored6.

Other diets which are being researched for seizure management include the Atkins diet5, a less-restrictive form of the KD, a high-polyunsaturated fat diet, and a calorie-restricted diet4.


In collaboration with an interdisciplinary team, a dietitian can confidently recommend a ketogenic diet to promote seizure control in patients with TSC. This diet should be overseen by a dietitian along with the neurologist to ensure patient safety and wellbeing. Alternative diets should also be reviewed as they may be less restrictive than KD with benefits for patients with seizures.



  1. Tuberous Sclerosis Fact Sheet. National Institutes of Health website. Last updated February 23, 2015. Accessed April 14, 2015.
  2. Schwartz RA, Fernandez G, Kotulska K, Jozwiak S. Tuberous sclerosis complex: Advances in diagnosis, genetics, and management. J Am Acad Derm. 2007; 57(2): 189-202.!/content/playContent/1-s2.0-S0190962207008420?scrollTo=%23hl0000613
  3. Fallah A, Wang S. Optimal management of seizures associated with tuberous sclerosis complex: current and emerging options. Neuropsychiatric Disease and Treatment. 2014:2021. doi:10.2147/ndt.s51789.
  4. Stafstrom C. Dietary Approaches to Epilepsy Treatment: Old and New Options on the Menu. Epilepsy Currents. 2004;4(6):215-222. doi:10.1111/j.1535-7597.2004.46001.x.
  5. Tonekaboni S, Mostaqhimi P, Mirmiran P et al. Efficacy of the Atkins diet as therapy for intractable epilepsy in children. Arch Iran Med. 2010;13(6):492-7. doi:010136/AIM.008.
  6. Groesbeck D, Bluml R, Kossoff E. Long-term use of the ketogenic diet in the treatment of epilepsy. Developmental Medicine & Child Neurology. 2006;48(12):978-981. doi:10.1111/j.1469-8749.2006.tb01269.x.

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