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Tuberous Sclerosis John Kanu UVA School of Medicine.

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Presentation on theme: "Tuberous Sclerosis John Kanu UVA School of Medicine."— Presentation transcript:

1 Tuberous Sclerosis John Kanu UVA School of Medicine

2 Introduction What is Tuberous Sclerosis? What is Tuberous Sclerosis? - a genetic disorder that causes benign tumors to form in many different organs: - a genetic disorder that causes benign tumors to form in many different organs: - brain (developmental delay, seizures) - heart - brain (developmental delay, seizures) - heart - eyes - heart - eyes - heart - kidney - lungs - kidney - lungs - skin - skin Prevalence: true prevalence unknown Prevalence: true prevalence unknown approximately 50,000 in the U.S. approximately 50,000 in the U.S. Over a million worldwide Over a million worldwide Genetics: One-third are known to be inherited Genetics: One-third are known to be inherited Two-third believed to be spontaneous mutation Two-third believed to be spontaneous mutation TSC-1 & TSC-2 gene responsible: tumor suppressor genes TSC-1 & TSC-2 gene responsible: tumor suppressor genes

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

4 Clinical Hx Tuberous Sclerosis Tuberous Sclerosis - incidentally diagnosed 3 yrs ago - incidentally diagnosed 3 yrs ago - initially p/w new onset abdominal pain. while living in Atlanta - initially p/w new onset abdominal pain. while living in Atlanta Initial work-up at Emory(which include) Initial work-up at Emory(which include) CT Scan (abdomen) CT Scan (abdomen) - absent ®-kidney - absent ®-kidney - ®-Kidney: multiple lesions c/w - ®-Kidney: multiple lesions c/w angiomyolipomas angiomyolipomas

5 Clinical Hx (cont.) MRI (brain) MRI (brain) - two subependymal nodules - two subependymal nodules Action taken at the time Action taken at the time - evaluated by Nephrology & Medical Genetics at Emory - evaluated by Nephrology & Medical Genetics at Emory - followed with surveillance ultrasound: by her report everything has been stable - followed with surveillance ultrasound: by her report everything has been stable

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

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

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

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

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

11 Brain MRI (cont.) - no hydrocephalus - no hydrocephalus - Findings can be seen in Tuberous Sclerosis - Findings can be seen in Tuberous Sclerosis - No classic-appearing cortical tubers were identified - 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) -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 However, subependymal giant cell astrocytomas occurs in 6 – 16% of pts. Tend to be noncancerous

13 Patients course Asymptomatic from a neurological standpoint Asymptomatic from a neurological standpoint - no spells suggestive of seizures - no spells suggestive of seizures - no cognitive deficit: completing her masters in Educational Psychology - no cognitive deficit: completing her masters in Educational Psychology - no headaches, nausea or vomiting - no headaches, nausea or vomiting Asymptomatic from Kidney standpoint Asymptomatic from Kidney standpoint

14 Pt.s PE findings Head: Head: - bumps on her nose c/w adenoma sebacium - bumps on her nose c/w adenoma sebacium Chest: Chest: - Lungs: CTA bilaterally (good air movement) - Lungs: CTA bilaterally (good air movement) - lesion over (L)-shoulder anteriorly c/w a shagreens patch - lesion over (L)-shoulder anteriorly c/w a shagreens patch Abdomen: normal findings Abdomen: normal findings LE: ®-calf hypomelanotic macule LE: ®-calf hypomelanotic macule

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

16 Plan CNS Surveillance (imaging) CNS Surveillance (imaging) - MRI every two years - MRI every two years - sooner in the event of any clinical changes - sooner in the event of any clinical changes - discuss possibility of hydrocephalus & seizure - discuss possibility of hydrocephalus & seizure Pulmonary standpoint Pulmonary standpoint - follow-up (f/u) at pulmonary clinic (life-time monitor) - follow-up (f/u) at pulmonary clinic (life-time monitor) Renal standpoint Renal standpoint - f/u at nephrology clinic (life-time ultrasound surveilance) - f/u at nephrology clinic (life-time ultrasound surveilance) Psychiatry: anti-seizure prophylaxis Psychiatry: anti-seizure prophylaxis

17 END END References: References: - Tuberous Sclerosis Alliance - Tuberous Sclerosis Alliance


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