Demographic, Clinical, and Radiographic Characteristics of Neurocutaneous Syndrome-Tuberous Sclerosis Complex | Chapter 18 | Issues and Development in Health Research Vol. 3

 Little is known about the prevalence, incidence, and features of tuberous sclerosis complex patients.

Tuberous sclerosis complex is a multisystem genetic disease. It's an autosomal disorder that affects several organs. Multiple hamartomas grow in a variety of organs, including the brain, kidneys, skin, uterus, and liver. Mutations in the TSC1 or TSC2 genes, which code for hamartin and tuberin, respectively, cause it. TSC is diagnosed utilising diagnostic criteria that are based on clinical and imaging data. Patients with TSC should be screened and monitored on a regular basis to establish the presence and extent of organ involvement, particularly in the brain, kidneys, and lungs, as well as the development of related problems. Because the treatment is organ-specific, imaging is critical in the care of TSC patients.

We present a 50-year-old woman with tuberous sclerosis complex who had facial angiofibromas, bilateral kidney angiomyolipomas, subependymal nodules, and a subependymal giant cell astrocytoma. The study's goal is to describe clinical and radiological findings in a patient with multiple hamartomas in various organ systems.

Author (S) Details

V. Nikam
Department of Anatomy, D.Y. Patil Medical College, India.

M. Shettennavar
S.M Diagnostic and Research Centre, India.

S. Babanagar
Department of Radiodiagnosis, D.Y. Patil Medical College, India.

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