children s health issues
Tuberous Sclerosis Complex
Diagnosis of Tuberous Sclerosis Complex
Established criteria A doctor's evaluation Magnetic resonance imaging or ultrasonography Sometimes genetic testing Doctors can use an established set of criteria to help them diagnose tuberous sclerosis complex. Before they apply the criteria, doctors first do a physical examination to determine whether people have certain symptoms, such as seizures, delayed development, or typical skin changes. Sometimes tuberous sclerosis complex is suspected before birth when routine Ultrasonography detects a tumor in the heart or brain. An eye examination (with Ophthalmoscopy ) is done to check for eye abnormalities. Genetic testing may be done for the following reasons: To confirm the diagnosis when symptoms suggest it To determine whether people who have a family history of the disorder but who do not have symptoms have an abnormal gene To check for the disorder before birth (prenatal diagnosis) if the family history includes the disorder 