Introduction Brain injuries of tuberous sclerosis have a particularly severe clinical appearance because they are providers of heavy effects and can be life-threatening
We present a special scheme that was believed, wrongly, archaic effect.
Material and methods A young infant is followed since the age of 9 months for TS with refractory epilepsy and autism, without parenchymal CNS tumour.
After many therapies, a ketogenic diet is proposed... The suites are fantastic: 1 single seizure after one year of follow-up (4 years old) and decreased aggressiveness of the patient
Result and discussion Tuberous sclerosis (TS) is a phacomatosis due to mutations in tumour suppressor genes (TSC1 and TSC2).
Epilepsy can be the first clinical sign and occur at any age : 60–90% of TS patients have epilepsy. The earliest type and the most characteristic is the West syndrome.
Current research indicates that mTOR integrates information from multiple signalling pathways, including insulin, growth factors (such as IGF-1 and IGF- 2) and mitogens. mTOR is also an indicator of the amount of available nutrients for the cell, as well as the energy and redox status.
Thus, the continuous decrease of nutrient inputs inhibits sensible cell receptor of the mTOR pathway and induces a suppressive response with an inverse pathophysiological mechanism.
Conclusion Although "ancient", the ketogenic diet has been "updated", especially in support of the TS; thanks to genetic advances, noting the crucial role of nutritional receptors by inactivating the mTOR pathway.