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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

Clinical photographs of the patients showing. (A) adenoma sebaceum, (B) dental pitting (arrowhead) and gingival fibromas (arrows), (C, D) subungual fibromas (arrows).
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f5-poljradiol-80-435: Clinical photographs of the patients showing. (A) adenoma sebaceum, (B) dental pitting (arrowhead) and gingival fibromas (arrows), (C, D) subungual fibromas (arrows).

Mentions: There was no history of seizures and the patient did not have mental retardation; though there was a history of intermittent headaches for which she took over-the-counter analgesics but never sought medical advice. She also complained of generalized body aches for the last 5–6 years. On examination typical facial angiofibromas (adenoma sebaceum) (Figure 5A) were present over the face along with a few hypopigmented macules and patches over the trunk. There was presence of dental pitting over a few teeth in the upper jaw (Figure 5B) along with multiple periungual and gingival fibromas (Figure 5B–5D). Echocardiography was normal. There was no family history of similar complaints.


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)

Clinical photographs of the patients showing. (A) adenoma sebaceum, (B) dental pitting (arrowhead) and gingival fibromas (arrows), (C, D) subungual fibromas (arrows).
© Copyright Policy - open-access
Related In: Results  -  Collection

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

f5-poljradiol-80-435: Clinical photographs of the patients showing. (A) adenoma sebaceum, (B) dental pitting (arrowhead) and gingival fibromas (arrows), (C, D) subungual fibromas (arrows).
Mentions: There was no history of seizures and the patient did not have mental retardation; though there was a history of intermittent headaches for which she took over-the-counter analgesics but never sought medical advice. She also complained of generalized body aches for the last 5–6 years. On examination typical facial angiofibromas (adenoma sebaceum) (Figure 5A) were present over the face along with a few hypopigmented macules and patches over the trunk. There was presence of dental pitting over a few teeth in the upper jaw (Figure 5B) along with multiple periungual and gingival fibromas (Figure 5B–5D). Echocardiography was normal. There was no family history of similar complaints.

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