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

Mistry KA, Sood D, Bhoil R, Chadha V, Ahluwalia AK, Sood S, Suthar PP - Pol J Radiol (2015)

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Radiology, Dr. Rajendra Prasad Government Medical College, Kangra, India.

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.

No MeSH data available.


Related in: MedlinePlus

(A) Coronal CT image of the skull, (B, C) sagittal CT images of spine showing multiple patchy sclerotic lesions throughout all bones.
© Copyright Policy - open-access
Related In: Results  -  Collection


getmorefigures.php?uid=PMC4588676&req=5

f4-poljradiol-80-435: (A) Coronal CT image of the skull, (B, C) sagittal CT images of spine showing multiple patchy sclerotic lesions throughout all bones.

Mentions: Multiple calcified subependymal nodules were noted in the brain on CT (Figure 2C, 2D), and thorax CT revealed variable-sized air-filled cysts throughout the parenchyma in both lungs (Figure 3) consistent with lymphangioleiomyomatosis (LAM). Multiple small ill-defined sclerotic lesions were seen throughout scanned axial skeleton including the skull, vertebrae and ribs (Figure 4).


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

Mistry KA, Sood D, Bhoil R, Chadha V, Ahluwalia AK, Sood S, Suthar PP - Pol J Radiol (2015)

(A) Coronal CT image of the skull, (B, C) sagittal CT images of spine showing multiple patchy sclerotic lesions throughout all bones.
© Copyright Policy - open-access
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC4588676&req=5

f4-poljradiol-80-435: (A) Coronal CT image of the skull, (B, C) sagittal CT images of spine showing multiple patchy sclerotic lesions throughout all bones.
Mentions: Multiple calcified subependymal nodules were noted in the brain on CT (Figure 2C, 2D), and thorax CT revealed variable-sized air-filled cysts throughout the parenchyma in both lungs (Figure 3) consistent with lymphangioleiomyomatosis (LAM). Multiple small ill-defined sclerotic lesions were seen throughout scanned axial skeleton including the skull, vertebrae and ribs (Figure 4).

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Radiology, Dr. Rajendra Prasad Government Medical College, Kangra, India.

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.

No MeSH data available.


Related in: MedlinePlus