A Classic Case of Tuberous Sclerosis with Multisystem Involvement Including Giant Bilateral Renal Angiomyolipomas Presenting as Massive Hematuria

Abstract

Background: Tuberous Sclerosis (TSC) also known as Bourneville disease is a neurocutaneous syndrome having an autosomal dominant inheritance pattern, though the condition has a high rate of spontaneous mutation. It is the second most common neurocutaneous syndrome after neurofibromatosis. This disease demonstrates a widespread potential for hamartomatous growths in multiple organ systems.

Case report: We report a case of a 36-year-old female with TSC presenting as massive hematuria with underlying giant bilateral renal angiomyolipomas (AML) with estimated total tumor burden of more than 8 kg which is to the best of our knowledge the highest ever reported. The patient also had lymphangioleiomyomatosis and lesions in the brain, skin, teeth and bones.

Conclusions: TSC has a wide variety of clinical and radiologic manifestations. It should be suspected when some of the common radiological manifestations are found, including CNS involvement, renal and hepatic AMLs and LAM, even if clinical signs are not obvious. Renal AMLs in setting of TSC may reach giant proportions and may present with massive hematuria.

Keywords: Angiomyolipoma; Congenital Abnormalities; Lymphangioleiomyomatosis; Tuberous Sclerosis.

Figure 1

(A) Oblique coronal US image of the right renal region showing a heterogenous mass with a large echogenic fatty component and a less echogenic soft-tissue component with prominent vessels within it (arrow). (B, C) Oblique coronal color Doppler US image in the right and left renal region respectively, showing highly vascular fatty masses. (D) Subcostal US scan of the liver showing presence of small echogenic lesions in both lobes consistent with small angiomyolipomas.

Figure 2

(A, B) Coronal and axial non-contrast-enhanced CT scans showing massive bilateral predominantly fatty renal masses consistent with angiomyolipomas. (C, D) Axial non-contrast-enhanced CT of the brain showing calcified subependymal nodules (arrows).

Figure 3

Axial (A, B), coronal (C) and sagittal (D) CT images of thorax in lung window showing presence of multiple variable sized air filled cysts consistent with LAM.

Figure 4

(A) Coronal CT image of the skull, (B, C) sagittal CT images of spine showing multiple patchy sclerotic lesions throughout all bones.

Figure 5

Clinical photographs of the patients showing. (A) adenoma sebaceum, (B) dental pitting (arrowhead) and gingival fibromas (arrows), (C, D) subungual fibromas (arrows).