Transcript hjkghkgk - University of Virginia 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 thinwalled 1 – 5 mm cysts
in lung parenchyma
Lung Image (cont.)

- Findings consistent
with lymphangioleiomyomatosis
UVA image - abdomen

- absent left Kidney

- mixed density intraparenchymal 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