2. INTRODUCTION:
TSC is an inherited neuro-cutaneous disorder characterized by multiple
benign hamartomas of the skin, eyes, brain, heart, lung, kidney and
liver.
In 1862 von Recklinghausen identified heart and brain tumors in a
newborn that had only briefly lived. However, Bourneville (1880) is
credited with having first characterized the disease, thus earning the
eponym Bourneville's disease.
3. GENETICS
• Autosomal dominant with
incidence 1 in 5000 live births.
• Mutation in TSC-1 or TSC-2
genes.
• +ve family history in 7 – 37%
11. Clinically (CNS):
• Epilepsy affecting 80 – 90% of patients in the form of infantile
spasms, simple or complex partial seizures with EEG +ve in 75 % of
patients.
• Cognitive deficits 44 – 65%.
• Autism and behavioral problems.
15. • Asymptomatic in most cases however symptoms may be
related to bleeding or mass effect.
• 2 histological types: classic and Epithelioid AML
• Diagnosis relies on the demonstration of Fat in the Tumor
16.
17. Prophylactic surgery?
Therapeutic interventions
• size ≥4cm to prevent bleeding
• Nephron sparing surgery
• High vascularity and/or
• Selective renal artery
aneurysm ≥ 5mm.
• High suspicion of malignancy
embolization
• Radiofrequency ablation
• Radical nephrectomy.
18. Potential issues in women
• Female sex hormones promote growth of renal AMLs and
their hemorrhagic complications during pregnancy, thus
frequency of US surveillance should increase.
19. Renal cystic disease
• The 2nd most common renal manifestation in TSC.
• 3 types of renal cysts are associated:
• Singe or multiple renal cysts
• TSC2/PKD1 contiguous gene syndrome
• Glomerulocytic kidney disease.
20. Chronic kidney disease:
• Some TSC patients may develop CKD, subnephrotic
proteinuria, hypertension and ESRD in absence of large
AML.
• Renal biopsy often reveals FSGS.
24. Cardiac (Rhabdomyoma)
Pulmonary (LAM)
• Often detected on prenatal US
• Lymphangioleiomyomatosis
• Benign tumor usually undergo
• Manifestations are similar to
spontaneous regression.
those with interstital lung
disease.
26. EVEROLIMUS
• FDA approved mTOR inhibitor (ExIST-2 trial)
• 50% reduction in AML volume in 3 month
• Recommended dose: 10 mg od for 38 weeks
• Reasonable candidates are:
• patients with renal AML plus other organ affected
• Rapidly growing AMLs.
• Patients who underwent nephrectomy or embolization.
27. Prognosis
• TSC is a progressive disorder.
• Causes of death usually due to status epilepticus or renal
disease.
• Surveillance is recommended every 2 years including
mental, physical examination, MRI brain, US and ECHO.
