Tuberous Sclerosis : Tests

Examination of the eyes may show retinal abnormalities, pale patches, and mulberry, phakoma or astrocytoma tumor; There may be some indications of heart abnormalities, including abnormal heart rhythm (arrhythmia) or a tumor (rhabdomyoma) on ultras...

When a person exhibits signs of TSC or has a family history of the condition, an evaluation by a medical geneticist, neurologist or other qualified professional is recommended to confirm (or rule out) the diagnosis and to recommend screening and m...

When a person exhibits signs of TSC or has a family history of the condition, an evaluation by a medical geneticist, neurologist, or other qualified professional is recommended to confirm (or rule out) the diagnosis and to recommend screening and ...

Up until the discovery of TSC1 and TSC2, the diagnosis of TS was made on a clinical basis. Criteria for clinical diagnosis were updated in 1998 at the Tuberous Sclerosis Complex Consensus Conference.

Tuberous sclerosis is diagnosed when the characteristic tumors are noted in the skin, heart, brain, or kidneys. Many patients come to the healthcare provider's attention after they have begun to have seizures. Further examination with CT and/or MR...

During a physical examination, a health care provider studies a patient's body to determine the presence or absence of physical problems. A typical physical examination includes: Inspection (looking at the body) Palpation (feeling the body with hands) Auscultation (listening to sounds) Percussion (producing sounds)

An MRI of the head is a non-invasive procedure that uses powerful magnets and radio waves to construct clear, detailed pictures of brain tissues. Unlike conventional radiography and computed tomography (CT), which make use of potentially harmful x-rays passing through a patient to generate images, MRI imaging is based on the magnetic properties of atoms. A powerful magnet generates a magnetic field roughly 10,000 times stronger than the Earth's. A very small percentage of hydrogen atoms within the body will align with this field. The "nuclear" in the original name (nuclear magnetic resonance imaging) -- now seldom used -- refers to the proton in the nucleus of the hydrogen atom and does not imply radioactivity. When focused short radio wave pulses are broadcast towards the aligned hydrogen atoms in tissues of interest, they will return a signal of their own. The subtle differences in that signal from dissimilar tissues enables the MRI to differentiate between various organs, and potentially, provide contrast between benign and malignant (cancerous) tissue. Any imaging plane, or slice, can be projected, and then stored in a computer or printed on film. MRI is easily performed through clothing and bones. However, certain types of metal in or around the area of interest can cause significant errors in the reconstructed images. These errors are called artifacts.

Detailed information on magnetic resonance imaging (MRI), including information on how the procedure is performed