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