A Pediatric Radiology Textbook and Pediatric Radiology Digital Library
Tuberous Sclerosis
Etiology: Autosomal dominant mutation in TSC1 or TSC2 supressor genes which results in hamartomas in multiple organs
Imaging Brain: — Subcortical tubers with abnormal signal extending to ventricles along radial fibers — Subependymal nodules which are often calcified, inhomogeneous, signal different than gray matter, along caudal-thalamic groove — Subependymal giant cell astrocytoma (SEGA) near Foramen of Monroe — Dysplastic white matter lesions
Imaging Gastrointestinal: — Cysts in liver and pancreas
Imaging Renal: — Angiomyolipoma (50%) – multiple and bilateral — Cysts — Renal cell carcinoma (rare) — Autosomal dominant polycystic kidney disease due to mutation or deletion of PKD1 gene as PKD1 gene is adjacent to the TSC2 gene in chromosome 16
Clinical: Clinical triad is adenoma sebaceum, seizures, mental retardation
Radiology Cases of Tuberous Sclerosis
Radiology Cases of Cortical Tubers in Tuberous Sclerosis
Coronal FLAIR MRI images without contrast of the frontal (above left), middle (above right) and posterior (below) aspects of the brain shows multiple bilateral poorly defined hyperintense areas located just beneath the cortex of the brain.
Radiology Cases of Subependymal Nodules in Tuberous Sclerosis
Axial T2 MRI without contrast of the brain (left) shows three rounded low intensity subependymal lesions along the lateral aspect of the left lateral ventricle. Axial FLAIR MRI image without contrast of the brain (right) shows multiple bilateral poorly defined hyperintense areas located just beneath the cortex of the brain.
Radiology Cases of Lymphangioleiomyomatosis in Tuberous Sclerosis
CXR PA (above) shows bilateral basilar interstitial infiltrates with variably sized cystic spaces. Axial CT without contrast of the right lung (below left) shows a prominent reticular interstitial pattern with fibrosis and widely distributed thin walled cystic spaces. In the left lung (below right), there are similar findings along with a loculated pneumothorax that had been treated with sclerotherapy in the past.CXR PA (above left) shows large bilateral pleural effusions. Axial CT with contrast of the chest (above right) shows the pleural effusions to be septated. The lung parenchyma (middle) was normal while the bones (below) had multiple cystic bone lesions in the right scapula, vertebral bodies and bilateral ribs.
Radiology Cases of Cardiac Rhabdomyoma in Tuberous Sclerosis
CXR AP (above left) shows cardiomegaly. Coronal CT with contrast of the chest (above right) shows a large low density nonenhancing mass inside the heart which on axial CT (below left) appears to be in the right ventricle and on sagittal CT (below right) appears to be encroaching on the right ventricular outflow tract.
Radiology Cases of Angiomyolipoma in Tuberous Sclerosis
Axial CT without contrast of the abdomen shows the right kidney to be normal in size and to contain multiple small low density lesions that when measured demonstrate negative Hounsfield units. The left kidney, which is massively enlarged, also contains multiple small low density lesions as well as one extremely large low density lesion in its anterior aspect.Axial CT with contrast of the abdomen shows a small round low density lesion in the posterolateral aspect of the left kidney (above) and a larger round low density lesion in the posterior aspect of the right kidney (below). There is also an intermediate density round lesion in the anteromedial aspect of the left kidney (above).Axial T1 MRI without contrast of the abdomen shows two oval hyperintense lesions in the right kidney that have similar signal intensity to the subcutaneous fat. No renal cysts were seen.
