TSC can affect many different systems of the body, causing a variety of signs and symptoms. Signs of the disorder vary depending on which system and which organs are involved. The natural course of TSC varies from individual to individual, with symptoms ranging from very mild to quite severe. In addition to the benign tumors that frequently occur in TSC, other common symptoms include seizures, mental retardation, behavior problems, and skin abnormalities. Tumors can grow in nearly any organ, but they most commonly occur in the brain, kidneys, heart, lungs, and skin. Malignant tumors are rare in TSC. Those that do occur primarily affect the kidneys.
Kidney problems such as cysts and angiomyolipomas occur in an estimated 70 to 80 percent of individuals with TSC, usually occurring between ages 15 and 30. Cysts are usually small, appear in limited numbers, and cause no serious problems. Approximately 2 percent of individuals with TSC develop large numbers of cysts in a pattern similar to polycystic kidney disease2 during childhood. In these cases, kidney function is compromised and kidney failure occurs. In rare instances, the cysts may bleed, leading to blood loss and anemia.
Angiomyolipomas-benign growths consisting of fatty tissue and muscle cells-are the most common kidney lesions in TSC. These growths are seen in the majority of TSC patients, but are also found in about one of every 300 people without TSC. Angiomyolipomas caused by TSC are usually found in both kidneys and in most cases they produce no symptoms. However, they can sometimes grow so large that they cause pain or kidney failure. Bleeding from angiomyolipomas may also occur, causing both pain and weakness. If severe bleeding does not stop naturally, there may severe blood loss, resulting in profound anemia and a life-threatening drop in blood pressure, warranting urgent medical attention.
Other rare kidney problems include renal cell carcinoma, developing from an angiomyolipoma, and oncocytomas, benign tumors unique to individuals with TSC.
Three types of brain tumors are associated with TSC: cortical tubers, for which the disease is named, generally form on the surface of the brain, but may also appear in the deep areas of the brain; subependymal nodules, which form in the walls of the ventricles-the fluid-filled cavities of the brain; and giant-cell tumors (astrocytomas), a type of tumor that can grow and block the flow of fluids within the brain, causing a buildup of fluid and pressure and leading to headaches and blurred vision.
Tumors called cardiac rhabdomyomas are often found in the hearts of infants and young children with TSC. If the tumors are large or there are multiple tumors, they can block circulation and cause death. However, if they do not cause problems at birth-when in most cases they are at their largest size-they usually become smaller with time and do not affect the individual in later life.
Benign tumors called phakomas are sometimes found in the eyes of individuals with TSC, appearing as white patches on the retina. Generally they do not cause vision loss or other vision problems, but they can be used to help diagnose the disease.
Additional tumors and cysts may be found in other areas of the body, including the liver, lung, and pancreas. Bone cysts, rectal polyps, gum fibromas, and dental pits may also occur.
A wide variety of skin abnormalities may occur in individuals with TSC. Most cause no problems but are helpful in diagnosis. Some cases may cause disfigurement, necessitating treatment. The most common skin abnormalities include:
TSC can cause seizures and varying degrees of mental disability. Seizures of all types may occur, including infantile spasms; tonic-clonic seizures (also known as grand mal seizures); or tonic, akinetic, atypical absence, myoclonic, complex partial, or generalized seizures.
Approximately one-half to two-thirds of individuals with TSC have mental disabilities ranging from mild learning disabilities to severe mental retardation. Behavior problems, including aggression, sudden rage, attention deficit hyperactivity disorder, acting out, obsessive-compulsive disorder, and repetitive, destructive, or self-harming behavior, often occur in children with TSC, and can be difficult to manage. Some individuals with TSC may also have a developmental disorder called autism.
Neurological symptoms may include tubers and other non-cancerous growths in the brain, cancerous brain tumors, seizures , and mental retardation or developmental delay.
Symptoms of tuberous sclerosis can be found in many parts of the body. One can have skin abnormalities including patches of light colored skin or Neurological symptoms such as seizures and behavior problems. Kidney problems and lung problems are also symptoms associated with tuberous sclerosis.
There is no cure for tuberous sclerosis. Therefore, treatment is based upon symptoms.
TS is also known by the names tuberous sclerosis complex and Bourneville's disease.
Thomas Allen Edwards has written: 'A clinical and genetic study of tuberous sclerosis' -- subject(s): Tuberous sclerosis
Tuberculosis Tuberous sclerosis
sclerosis of the liver symptoms
Tuberous sclerosis complex (TSC) is a genetic disorder that causes tumors to form in many different organs, primarily in the brain, eyes, heart, kidney, skin and lungs. You will see it referred to both as tuberous sclerosis (TS) and tuberous sclerosis complex (TSC). The term TSC is used in scientific literature to distinguish tuberous sclerosis complex from Tourette's syndrome. The disease affects some people severely, while others are so mildly affected that it often goes undiagnosed. Some people with TSC experience developmental delay, mental retardation and autism. However, there are also many people with TSC living independent, healthy lives who enjoy challenging professions such as doctors, lawyers, educators and researchers. From the Tuberous Sclerosis Alliance. Go to www.tsalliance.org for more information.
Healthy Body Healthy Mind - 2003 Learning About Tuberous Sclerosis 24-2 was released on: USA: 19 July 2012
John P. Osborne has written: 'Tuberous sclerosis'
TS has been reported in all ethnic groups and races with equal frequency.
Initially, symptoms of MMA can be similar to early signs of other, more serious neurological disorders such as amyotrophic lateral sclerosis (ALS or Lou Gehrig's disease) and spinal muscular atrophy .
Amyotrophic lateral sclerosis