My Disease
Tuberous Sclerosis


Sorry for any mistakes - I am still a young man and my english is not very good.

1. History

Tuberous Sclerosis has many names. It is also known as Maladie de Bourneville in France, Pringle`s Disease in England and in Germany as Bourneville - Pringle disease. In the English linguistic area the abbreviation TSC (Tuberous Sclerosis Complex) is used for Tuberous Sclerosis. This name takes into account the fact that the clinical manifestations of this illness can be polymorphic and complex. The English name Tuberous Sclerosis describes alone the changes of the cerebral cortex. The old name Epiloia, a combination of epilepsy and Anoia (Greek: mental deficiency feeble–mindedness) is not used any more.

The German pathologist von Recklinghausen reported on March 25th, 1862 about a newborn child who died after some breaths. He found multiple heart tumors at the post–mortem examination, of which one achieved the size of a pigeon egg and hardened areas strikingly in the brain. This short report was probably the first description of a TSC. The Parisian neurologist Bournville delimited 1880 TSC as a special form of the epilepsy. He described in detail epileptics characteristic changes of the brain with several deceaseds with the ventrikular lumps and the strong prominent areas of the brain surface which he described as "a tuberous sclerosis of the convolutions of the brain".

Balzer and Mènètrier independently of each other described TSC as an skin disease five years later for the first time. They watched the facial Angiofibrome which they erroneously interpreted as sebaceous gland tumors and described as an "Adenoma sebaceum" with several patients. Pringle adopted this expression in London later. The other organ manifestations weren't known to the authors. Only 1908 Vogt recognized the Sclerosis and the Angiofibrome as a different manifestation of the same illness. He described the combination of facial Angiofibromen, epileptic attacks and intellectual hindrance as a classic Triassic Period, however, noticed that heart and kidney tumors also are part of this syndrome. When TSC had in large numbers family occasionally been watched in several generations it got clear that it had to be an inheriting suffering. The diagnosis was prolonged to TSC only with patients who were mentally handicapped and showed epileptic attacks as well as Angiofibrome of the face for a long time although it was reported over an intellectually normal young man with multiple Angiofibromen and epileptic attacks already 1914. Within the following years it then got increasingly clear that on one hand not all patients show the Triassic Period described by Vogt but on the other hand brain, skin and many further organs may be concerned.

The newer methods like the computed tomography (CT) and the magnet resonance tomography (MRT) brought an essential diagnostic progress at the end of the seventies. This method allows an exact representation of the brain participation with the living patient and and a diagnosos of TSC already in baby old age.

In 1987 the first gene place of TSC was found on chromosome 9 and five years later the second found on chromosome 16. Both genes were identified in 1997. The basis for a better understanding of the cellular and molecular illness emergence was the prerequisite for the development of a genetic and prenatal diagnostics. The molecular genetic diagnostics of the TSC still is in development and becomes at present only of some, offered oriented laboratories scientifically usually. Whether new approaches for the treatment will arise from the increasing molecular knowledge cannot be foreseen yet.