Season 9 Case 14
History: Abdominal pain
Can you identify the source of acute pain and the underlying etiology?
Perhaps some additional images from the same patient?
Answer: Tuberous Sclerosis
More specifically - multiple large bilateral renal angiomyolipomas through the kidneys (green) with acute R perinephric hemorrhage (red arrows)
*remember increasing size of AMLs = increasing risk of hemorrhage!
Tuberous Sclerosis (aka Bourneville Dz)
-neurocutaneous disorder (phakomatosis)
-numerous benign tumors of ectodermal orgin (skin, eyes, CNS)
-Classic: child with Vogt's triad (seizures, intellectual disability, adenoma sebaceum https://rb.gy/rlkgei
Tuberous Sclerosis (Chest):
-varying size, thin walled, spherical intrapulmonary cysts with uniform distribution
-multifocal micronodular pneumocyst hyperplasia (MMPH)
-numerous small pulmonary nodules
- Cardiac rhabdomyomas
Tuberous Sclerosis (Neuro)
- subependymal hamartomas (below)
- small Ca++ subependymal nodules
- subependymal giant cell astrocytomas (SGCA)
- Cortical/Subcortical tubers - Triangle shaped subcortical lesions with apex pointing to ventricles (majority in frontal lobes)