Tuberous sclerosis
Updates to Case Attributes
The clinical triad of tuberous sclerosis in a young female includes seizures, mental retardation, and adenoma sebaceum. The neurologic findings most commonly include cortical tubers and subependymal nodules. Abdominal findings include renal angiomyolipomas, some of which may have vessel dilatation (macroaneurysm) and have the propensity to bleed when large enough. AlthoughHepatic angiomyolipomas are also seen in patients with tuberous sclerosis. Although rare, association of tuberous sclerosis with pulmonary lymphangioleiomyomatosis (LAM) have been documented.
This case is a young female with a clinical presentation of mental retardation and adenoma sebaceum. Abdominal findings include hepatic and renal angiomyolipomas. There is possible evidence of rupture in the right kidney, including ascites. Partially visualized lungs indicate lymphangioleiomyomatosis. The clinical and imaging findings point to tuberous sclerosis. Unfortunately, the patient died prior to additional neuroimaging and thoracic imaging studies.
-<p>The triad of tuberous sclerosis in a young female includes seizures, mental retardation, and adenoma sebaceum. The neurologic findings most commonly include cortical tubers and subependymal nodules. Abdominal findings include renal angiomyolipomas, some of which may have vessel dilatation (macroaneurysm) and have the propensity to bleed when large enough. Although rare, association of tuberous sclerosis with pulmonary lymphangioleiomyomatosis (LAM) have been documented.</p><p>This case is a young female with a clinical presentation of mental retardation and adenoma sebaceum. Abdominal findings include hepatic and renal angiomyolipomas. There is possible evidence of rupture in the right kidney, including ascites. Partially visualized lungs indicate lymphangioleiomyomatosis. The clinical and imaging findings point to tuberous sclerosis. Unfortunately, the patient died prior to additional neuroimaging and thoracic imaging studies.</p>- +<p>The clinical triad of tuberous sclerosis in a young female includes seizures, mental retardation, and adenoma sebaceum. The neurologic findings most commonly include cortical tubers and subependymal nodules. Abdominal findings include renal angiomyolipomas, some of which may have vessel dilatation (macroaneurysm) and have the propensity to bleed when large enough. Hepatic angiomyolipomas are also seen in patients with tuberous sclerosis. Although rare, association of tuberous sclerosis with pulmonary lymphangioleiomyomatosis (LAM) have been documented.</p><p>This case is a young female with clinical presentation of mental retardation and adenoma sebaceum. Abdominal findings include hepatic and renal angiomyolipomas. There is possible evidence of rupture in the right kidney, including ascites. Partially visualized lungs indicate lymphangioleiomyomatosis. The clinical and imaging findings point to tuberous sclerosis. </p>
Updates to Study Attributes
There are multiple fat-attenuating lesions in the liver. Both kidneys are markedly enlarged and heterogeneous with multiple fat-attenuating parenchymal lesions. There These lesions are compatible with hepatic and renal angiomyolipomas. Within the right kidney is a large predominantly hypoattenuating mass with a prominent and tortuous vessel traversing within it, which appears to be a branch of the right renal artery. This large hypodense lesion within the right kidney is well-defined except for its irregular posteromedial border. The bowels are inferiorly displaced by the enlarged kidneys. Minimal ascites is seen. There is an incidental finding of multiple cystic foci interspersed within the partially visualized bilateral lung parenchyma. Actual face of the patient with adenoma sebaceum is presented.
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