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Tuberous Sclerosis
John Kanu
UVA School of Medicine
Introduction
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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
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Prevalence: true prevalence unknown
approximately 50,000 in the U.S.
Over a million worldwide
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Genetics:
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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
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Age: 28 y/o Female
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PMH
- Obsessive Compulsive Disorder
- Depression
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SH
- Live alone; denied tobacco use, rare alcohol use
Clinical Hx
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Tuberous Sclerosis
- incidentally diagnosed 3 yrs ago
- initially p/w new onset abdominal pain
. while living in Atlanta
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Initial work-up at Emory(which include)
CT Scan (abdomen)
- absent ®-kidney
- ®-Kidney: multiple lesions c/w
angiomyolipomas
Clinical Hx (cont.)
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MRI (brain)
- two subependymal nodules
Action taken at the time
- evaluated by Nephrology & Medical
Genetics at Emory
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- followed with surveillance ultrasound: by her
report everything has been stable
Clinical Hx (cont.)
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She recently moved to Charlottesville for work
purposes.
She desired follow-up at UVA
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FH
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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)
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- innumerable thinwalled 1 – 5 mm cysts
in lung parenchyma
Lung Image (cont.)
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- Findings consistent
with lymphangioleiomyomatosis
UVA image - abdomen
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- absent left Kidney
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- mixed density intraparenchymal renal
lesion w/ fat
attenuation cysts
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- findings c/w renal
angiomyolipoma
UVA image – brain MRI
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- single enhancing
subependymal nodule
along the body of the
left lateral ventricle
Brain MRI (cont.)
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- no hydrocephalus
- Findings can be seen
in Tuberous Sclerosis
- No classic-appearing
cortical tubers were
identified
MRI – Brain (cont. 0
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-heterogenously-enhancing
lesion adjacent to the frontal
horn of (L)-lateral ventricle:
most likely primary brain
neoplasm (pilocytic
astrocytoma)
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However, subependymal
giant cell astrocytomas
occurs in 6 – 16% of pts.
Tend to be noncancerous
Patient’s course
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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
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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
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Tuberous Sclerosis
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Diagnostic critieria
- Facial angiofibromas
- hypomelanotic macules
- Shagreen patch
- Subependymal nodule
- subependymal giant cell astrocytoma
- Lymphangiomyomatosis
- Renal angiomyolipoma
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Plan
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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
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References:
- Tuberous Sclerosis Alliance