What is TS?
History
The Genes that cause TS
Clinical Manifestations
    SKIN
    KIDNEY
    BRAIN
    EPILEPSY
    MENTAL HANDICAP
    BEHAVIOR
    HEART
    EYE
    LUNG
    TEETH
    OTHER

Diagnosis in an infant is usually suspected when the child has cardiac rhabdomyomas (benign heart tumors) at birth or begins to have seizures or infantile spasms. In such cases, a careful examination of the skin and brain could lead to a TS diagnosis in an infant. However, diagnosis due to seizures later in life, reddish-looking facial rash (facial angiofibromas), or mental handicap is more common. Following are descriptions and pictures of the clinical manifestations of TS.

Skin:

Kidney:
Renal angiomyolipomas which occur in about two-thirds of TS patients, are usually benign harmatomas consisting of varying amounts of vascular tissue, fat, and smooth muscle. These renal tumors and cyst growth increase among TS patients with age, and in adults, bilateral tumors or more than one tumor in a single kidney are common. Kidney tumor and cyst growth can be serious. However, serious renal complications are unusual before the second and third decade of life. At diagnosis, a child should have either a kidney ultrasound, CT, or MRI so there is a baseline scan of any tumor growth. A scan should be repeated every 2-3 years if the child is asymptomatic. At each visit, blood pressure should be monitored because it can be the first sign of increasing kidney involvement. Medications can be prescribed if high blood pressure is present. Parents and individuals with TS also should pay attention to blood in the urine a and complaints of abdominal or low back pain. Renal lesions in many patients remain stable and require no specific treatment. However, for those who needed care, kidney dialysis and transplants have been successful. (See Q&A: TS and Kidneys for more information.)
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Brain:
Several types of brain lesions characterize TS, but neuropathologic changes are variable. A CT or an MRI is recommended to set a baseline and should be repeated as determined by the physician. If a patient is asymptomatic, many physicians recommend a CT or a MRI at least every 1-3 years until age 20. Subependymal modules typically accumulate calcium within the first few months or years of life and can be detected with the CT. The subependymal nodules are not directly responsible for neuralgic problems, and it is not necessary to remove them. Giant Cell Astrocytoma develop in 6% to 14% of TS patients. Its growth is less likely in young children and after the age of 20. If it grows large enough, it can block the flow of fluid inside the ventricles, and the tumor will have to be removed and/or the ventricles shunted to relieve fluid buildup and pressure. Changes in appetite, behavior and mood, vomiting, nausea and headaches are warning signs of a possible problem and should prompt a visit to the doctor. Periodic brain scans can sometimes show enlargement of a tumor even before symptoms develop. Cortical Tubers, for which TS is names, is essentially a harmatoma and may form on the surface of the brain before birth.
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Epilepsy:
Epileptic seizures are one of the most important neurologic problems of TS and occur in 80% to 90% of recognized patients. Seizures are often the first noticed problem of TS. Early in life, the seizures may consist only of brief head nodding, staring or may be more generalized with spasms of the limbs and flexion and extension of the head and trunk. Seizures sometimes cease or occur less frequently as children grow older. A physician should be contacted immediately at the onset of seizures of if they become more frequent, prolonged, or changed in appearance. The doctor will want to know the child's behavior before, during, and after the seizure. If seizures are suspected, the doctor will ordinarily order an electroencephalogram (EEG) to spot abnormalities in the brain signals and determine the type of seizure you are having. Infantile spasms and tonic-clonic seizures are most common in TS patients. Seizure control is very important because frequent or prolonged seizures may contribute to developmental or intellectual impairment, and antiepileptic drugs should be tailored to the patient's age and seizure type.
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Mental:
About 45% to 60% of TS patients are mentally retarded although the degree of intellectual dysfunction ranges from borderline to profound mental retardation. The figure, however, is dropping as more and more individuals without any mental handicap are diagnosed as TS. Most mentally retarded patients with TS have epilepsy but the reverse is not necessarily true. Some children appear to develop normally until the onset of seizure when their progress slows or they actually lose developmental milestones. A few children may regress due to growth of a brain tumor, intoxication from anti-epileptic drugs, or a lack of seizure control, but those who do eventually stabilize. The degree of the neurologic function is thought to be determined by a combination of the severity of the seizures and the number, size, and location of the cerebral lesions.
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Behavior:
Autism, attention deficit disorder, hyperactivity, aggressiveness, sudden rage, obsessive-compulsive behavior, repetitive behavior, and anxiety disorders are found in TS individuals with varying degrees of intellectual ability and in isolation or in combination with epilepsy. Occasionally TS individuals have been diagnosed with schizophrenia, manic-depression, depression, and other psychiatric disorders. The behavior of a TS child can be the most difficult and trying for family members, and it is important to keep notes on the child's behavior so that it is identified as soon as possible and special programs can be outlined for the child. Behavioral pediatricians may be helpful in diagnosing behavior disorders in young children with TS and could provide or suggest resources for an early intervention plan.
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Heart:
Up to two-thirds of individuals with TS have one or more cardiac rhabdomyomas(benign tumors) although few of them become symptomatic. The tumors are usually found in infants, and multiple or large tumors can block circulation and even cause death. However, evidence suggests that its frequency and size diminish with age. If the tumors are not problematic at birth, they will probably stay asymptomatic. An echocardiogram (ECG) will determine if cardiac rhabdomyomas are present and an electrocardiogram (EKG) will determine if there is any dysfunction in conduction of electrical impulses in the walls of the heart. Any symptoms should be followed by a cardiologist who is aware of the risks involved in patients with TS.
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Eye:
The appearance of retinal lesions varies from the classical mulberry lesions adjacent to the optic disc (see picture) to the more common plaque-like hamartoma. The frequency of retinal hamartomas in TS patients is varied from almost negligible to 87% of patients due to the difference in technique used and the expertise of the examiner. Eye lesions rarely cause any visual loss or problems, but are helpful in diagnosing TS.
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Teeth:
Oral involvement in TS can involve fibromas of the gums and dental pits. The fibromas appear as overgrowth of the gums and can be extensive although such finding is rare. Dental pits (see picture) are found in both primary and adult teeth. The pits were found in 100% of patients over 11 years old and 76% in patients younger than 11. The pits are seen on both the front and back surfaces of the teeth, areas that do not normally develop cavities. Dental pits can be revealed using dental plaque disclosing stain and a dental explorer. They do not usually develop into cavities, so there is no reason to fill them or apply any other treatment. Extensive growth of fibromas of the gums can be removed using oral surgery if necessary.
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Other Organs:
Cysts, similar to those found in the kidney, have been observed on other organs such as adrenal gland, liver, ovary, and pancreas, but they are usually asymptomatic and do not require any treatment. Bone cysts can also develop but are not problematic until later in life. Rectal polyps have also been reported but do not appear to be a problem either.
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