Season 9 Case 14

Season 9 Jan 31, 2021

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)

-usually sporatic

-Classic: child with Vogt's triad (seizures, intellectual disability, adenoma sebaceum https://rb.gy/rlkgei

Tuberous Sclerosis (Chest):

-lymphangiomyomatosis (LAM)

-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)