Child with H/O infantile spasm, Hypopigmented macule on back, delayed mile stone
1). The diagnosis of TSC is based on clinical findings. Two causative genes, TSC1 and TSC2, have been identified. Molecular testing for both genesis available on a clinical basis.
1). Treatment of manifestations: For seizures: vigabatrin and other antiepileptic drugs, and on occasion, epilepsy surgery. Removal of enlarging giant cell astrocytomas before symptoms develop and/or they become locally invasive.
2). Renal arterial embolization or renal sparing surgery for angiomyolipomas greater than 3.5 to 4.0 cm.
3). Surveillance: cranial CT/MRI every one to three years for children and adolescents; semiannual renal sonography in individuals with small angiomyolipomas, otherwise renal ultrasonography every one to three years; renal CT/MRI if large or numerous tumors are detected; neurodevelopmental and behavioral evaluations at the time of school entry and in response to educational or behavioral concerns in children; echocardiography, if cardiac symptoms indicate; chest CT, if pulmonary symptoms indicate.
4). Testing of relatives at risk: Identifying affectedrelatives permits monitoring for early detection of problems associated with TSC, thus leading to earlier treatment and better outcomes.
1). TSC is inherited in an autosomal dominant manner. Two-thirds of affected individuals have TSC as the result of a de novo mutation.
2). The offspring of an affected individual have a 50% risk of inheriting the TSC-causing mutation.
3. Prenatal testing for pregnancies at increased risk is possible if the disease-causing mutation has been identified in the family.