Tuberous sclerosis

Bourneville - ( Pringle ) syndrome Epiloia

Tuberous sclerosis is an autosomal dominant inherited disorder associated with malformations and tumors of the brain, skin lesions and usually benign tumors in other organ systems and is clinically characterized by frequent seizures and cognitive disabilities.

The prevalence of the disease in newborns is approximately 1:8000. After the Erstbeschreibern, the French neurologist Désiré - Magloire Bourneville (1840-1909) and Édouard Brissaud (1852-1909) and the British dermatologist John James Pringle (1855-1922) is the disease commonly known as Bourneville - Pringle syndrome or Bourneville - Brissaud - Pringle syndrome called. In the English -speaking world, the term Tuberous Sclerosis Complex ( TSC) has naturalized to highlight the complex of symptoms and syndromes in this disease from the group of phakomatoses.

Malformations and tumors of the brain

Malformations and tumors of the brain are often detected early. Cortical hamartomas glion euro signals, the so-called tubers ( protrusions ) in the region of the cortex, often accompanied by epilepsy and can cause cognitive impairment, whereas subependymal subependymal nodules Riesenzellastrozytome and typically lead to the development of hydrocephalus due to their proximity to the ventricular system.

Epilepsy

Epileptic seizures are characteristic of tuberous sclerosis and can already occur in the first months of life. Common in infants, West syndrome is diagnosed. Seizures occur in about 70% of children with tuberous sclerosis and can not always be satisfactorily treated with medication. A correlation between seizure frequency and learning difficulties could be detected.

Developmental disorders

Developmental disorders with impairment of speech and motor development, as well as learning disabilities can present problems; sometimes can behavioral problems are in the foreground .. The extent of disability, however, is extremely heterogeneous: Sun, reported in a study on the one hand, more than half the patients had a normal intelligence quotient, while 31% of the examinees passed with an intelligence quotient under 21 very severe limitations.

Lesions

Lesions occur in different forms and occur in part due to age-dependent. First skin lesions are harmless pigmentation, white leaf-shaped spots on the body ( so-called ash- leaf spots) and come in over 80 % of patients in the first year of life. In later childhood occur typically added symmetrically located in the region of both nasolabial folds reddish papules. This is to angiofibroma, benign hamartomas were described in 1890 by John James Pringle first time as adenoma sebaceum. Also typical are slightly elevated leathery solidified lumbosacral skin lesions that are referred to as " shagreen patch" (up to 40 %). Hazards arising from the nail fold rough, reddish fibromatous nodes are referred to as Koenen's tumor and occur in 22% of patients in late childhood on.

Other organ systems

Outside the brain occur in benign tumors called angiomyolipomas and renal cysts in the kidneys. These changes are often no symptoms, but can rarely become malignant. In the heart of the muscle tissue tumors are diagnosed in many children from birth to so-called rhabdomyomas. This make of Friedrich Daniel von Recklinghausen tumors (1833-1910), first described in most cases no serious problems. They grow up to birth and form then usually back; which factor is related, is not yet known. With involvement of the skin occur cutaneous angiofibromas on ( adenoma sebaceum ). The lung ( Lymphangioleiomyome ) and other organs of the body can be affected by tumors.

Heredity

Tuberous sclerosis is an autosomal dominant. This means that the disease can be inherited from an affected man with a probability of 50 % on. In 30% of all people affected by the inheritance was the father or the mother. For the remaining 70%, the disease has been sporadic and caused by a new mutation. Even if only small symptoms of tuberous sclerosis are present, there is the possibility that children can get a very pronounced form of tuberous sclerosis. In affected families to have children, therefore, genetic counseling by a specialist in human genetics is recommended. For the estimation of repetition probability may be a help, a molecular genetic analysis of an affected family member, if the disease-causing mutation in one of the genes for tuberous sclerosis ( TSC1 on chromosome 9 locus q34 and TSC2 on chromosome 16 locus p13.3 ) is identified and then targeted can be tested for this mutation back. Using standard molecular genetic methods ( Exonsequenzierung and MLPA ) mutations or deletions in the region of the TSC1 - TSC2 or gene are detectable in about 85 % of patients.

Treatment and prognosis

A causal therapy of tuberous sclerosis, there are not, the treatment is limited to the symptoms, and in particular epilepsy. Many people with low pronounced tuberous sclerosis lead fairly normal lives. In more severe cases, however, the life expectancy may be limited especially in severe epilepsy, severe cognitive impairments and by the appearance of tumors.