John Kanu UVA School of Medicine Tuberous Sclerosis John Kanu UVA School of Medicine

Introduction What is Tuberous Sclerosis? - a genetic disorder that causes benign tumors to form in many different organs: - brain (developmental delay, seizures) - heart - eyes - heart - kidney - lungs - skin Prevalence: true prevalence unknown approximately 50,000 in the U.S. Over a million worldwide Genetics: One-third are known to be inherited Two-third believed to be spontaneous mutation TSC-1 & TSC-2 gene responsible: tumor suppressor genes

Patient’s Info Age: 28 y/o Female PMH - Obsessive Compulsive Disorder - Depression SH - Live alone; denied tobacco use, rare alcohol use

Clinical Hx Tuberous Sclerosis - incidentally diagnosed 3 yrs ago - initially p/w new onset abdominal pain . while living in Atlanta Initial work-up at Emory(which include) CT Scan (abdomen) - absent ®-kidney - ®-Kidney: multiple lesions c/w angiomyolipomas

Clinical Hx (cont.) MRI (brain) - two subependymal nodules Action taken at the time - evaluated by Nephrology & Medical Genetics at Emory - followed with surveillance ultrasound: by her report everything has been stable

Clinical Hx (cont.) She recently moved to Charlottesville for work purposes. She desired follow-up at UVA FH Negative for Tuberous Sclerosis cousin with Tourette’s Renal failure in dad due to HUS (hemolytic Uremic Syndrome) Uterine and colon cancer in both grandmothers

UVA image – CT (Lung) - innumerable thin-walled 1 – 5 mm cysts in lung parenchyma

Lung Image (cont.) - Findings consistent with lymphangio-leiomyomatosis

UVA image - abdomen - absent left Kidney - mixed density intra-parenchymal renal lesion w/ fat attenuation cysts - findings c/w renal angiomyolipoma

UVA image – brain MRI - single enhancing subependymal nodule along the body of the left lateral ventricle

Brain MRI (cont.) - no hydrocephalus - Findings can be seen in Tuberous Sclerosis - No classic-appearing cortical tubers were identified

MRI – Brain (cont. 0 -heterogenously-enhancing lesion adjacent to the frontal horn of (L)-lateral ventricle: most likely primary brain neoplasm (pilocytic astrocytoma) However, subependymal giant cell astrocytomas occurs in 6 – 16% of pts. Tend to be noncancerous

Patient’s course Asymptomatic from a neurological standpoint - no spells suggestive of seizures - no cognitive deficit: completing her masters in Educational Psychology - no headaches, nausea or vomiting Asymptomatic from Kidney standpoint

Pt.’s PE findings Head: - bumps on her nose c/w adenoma sebacium Chest: - Lungs: CTA bilaterally (good air movement) - lesion over (L)-shoulder anteriorly c/w a shagreen’s patch Abdomen: normal findings LE: ®-calf hypomelanotic macule

Diagnosis Tuberous Sclerosis Diagnostic critieria - Facial angiofibromas - hypomelanotic macules - Shagreen patch - Subependymal nodule - subependymal giant cell astrocytoma - Lymphangiomyomatosis - Renal angiomyolipoma

Plan CNS Surveillance (imaging) - MRI every two years - sooner in the event of any clinical changes - discuss possibility of hydrocephalus & seizure Pulmonary standpoint - follow-up (f/u) at pulmonary clinic (life-time monitor) Renal standpoint - f/u at nephrology clinic (life-time ultrasound surveilance) Psychiatry: anti-seizure prophylaxis

END References: - Tuberous Sclerosis Alliance