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John Kanu UVA School of Medicine

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

2 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

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

4 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

5 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

6 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

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

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

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

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

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

12 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

13 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

14 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

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

16 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

17 END References: - Tuberous Sclerosis Alliance

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