Tuberous Sclerosis

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Tuberous Sclerosis

• John Kanu
• UVA School of Medicine

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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

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Patients Info

• Age 28 y/o Female
• PMH
• - Obsessive Compulsive Disorder
• - Depression
• SH
• - Live alone denied tobacco use, rare alcohol use

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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

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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

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Clinical Hx (cont.)

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

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UVA image CT (Lung)

• - innumerable thin-walled 1 5 mm cysts in lung
  parenchyma

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Lung Image (cont.)

• - Findings consistent with lymphangio-leiomyomato
  sis

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UVA image - abdomen

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

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UVA image brain MRI

• - single enhancing subependymal nodule along the
  body of the left lateral ventricle

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Brain MRI (cont.)

• - no hydrocephalus
• - Findings can be seen in Tuberous Sclerosis
• - No classic-appearing cortical tubers were
  identified

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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

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Patients 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

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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
  shagreens patch
• Abdomen normal findings
• LE -calf hypomelanotic macule

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Diagnosis

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

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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

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• END
• References
• - Tuberous Sclerosis Alliance