INFORMATION ON TS DIAGNOSTIC CRITERIA
| DEFINITE TUBEROUS SCLEROSIS COMPLEX |
| Either two major features or one major feature plus two minor features. |
| PROBABLE TUBEROUS SCLEROSIS COMPLEX |
| One major plus one minor feature. |
| POSSIBLE TUBEROUS SCLEROSIS COMPLEX |
| Either one major feature or two or more minor features. |
MAJOR FEATURES
- Facial angiofibromas or forehead
- Nontraumatic ungual or periungual fibroma (fingers and toes)
- Hypomelanotic macules (three or more) (skin)
- Shagreen patch (connective tissue nervus) (skin)
- Multiple retinal nodular hamartomas (eyes)
- Cortical tuber (brain)
- Subependymal nodule (brain)
- Subependymal giant cell astrocytoma (brain)
- Cardiac Rhabdomyoma, single or multiple (heart)
- Lymphangiomyomatosis (lungs)
- Renal angiomyolipoma (kidneys)
MINOR FEATURES
- Multiple, randomly distributed pits in plaque (skin) dental enamel (teeth)
- Hamartomatous rectal polyps
- Bone cysts
- Cerebral white matter radial migration lines (brain)
- Gingival fibromas (gums)
- Nonrenal hamartoma (liver, spleen & other organs)
- Retinal achromic patch (eyes)
- "Confetti" skin lesions (skin & hair)
- Multiple renal cysts (kidney)
TS was first documented in 1880 by D.M. Bourneville, a French physician. Historically, an individual could be diagnosed with Tuberous Sclerosis Complex on the presence of three symptoms.
- Seizures
- Mental Retardation
- Specific facial skin marks
Individuals affected by Tuberous Sclerosis Complex have a 50% chance of passing the genetic disease to their children. In many of the reported cases of TSC, no familial genetic link can be found. These cases (perhaps as many as 50%) are thought to be new mutations of the disease.
Tuberous Sclerosis is believed to begin in vitro during the first three months of pregnancy.
As the small fetus develops skin, internal organs, and brain cells, many body systems are affected by the disease. Why some individuals have no symptoms, while others suffer severly from the disease, is not known.
Modern and complete diagnosis includes detailed skin examinations, brain scans, neurological examination, ultrasound, ophthalmological tests, and genetic counseling.
Although the condition can be severe with epilepsy, mental handicap and behavioral problems, there are many mild cases where symptoms go unnoticed, yet can have a significant effect on the child's behaviors and the ability to learn.
Over 50% of individuals with Tuberous Sclerosis Complex are intellectually normal and able to lead normal lives. The remainder have some degree of learning difficulty with a high proportion of this group being severely-affected. Of those with severe mental handicap, two-thirds have autistic behavior (poor social relationships, language retardation, and compulsive behavior).
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