A RARE GENETIC VARIANT OF TUBEROUS SCLEROSIS COMPLEX PRESENTING WITH BILATERAL RENAL ANGIOMYOLIPOMAS

R JR LARRAZABAL1, H HENRISON CHIU2

1Department of Medicine – Philippine General Hospital, Manila, Philippines, 2Division of Endocrinology, Diabetes, and Metabolism – Philippine General Hospital, Manila, Philippines

Background: Tuberous Sclerosis Complex (TSC) is an autosomal dominant disorder with a prevalence of approximately 1 to 6,000-12,000 worldwide. A prominent feature is hamartomatous tumors in the kidney. A Renal angiomyolipoma associated with TSC are more likely to be life-threatening due to greater propensity to develop hemorrhage.
Case Report: A 28-year-old female came in for right upper quadrant pain of four months duration only. Physical examination revealed fibrous cephalic plaques, an erythematous plaque at the left upper quadrant, periungual angiomas and angiofibroma. An abdominal computed tomography with contrast revealed both kidneys are enlarged by innumerable, confluent, ill to fairly defined mixed hypoattenuating, fat containing, heterogeneously enhancing masses of varying sizes arising from the renal parenchyma; the masses exhibit marked enhancement on contrast study with note of blood supply coming from multiple prominent, tortuous renal vessels. At this point, the service considered the patient to be a case of Tuberous Sclerosis. Genetic testing was done for 47 genes using a saliva sample. The result came positive for the TSC2 with the variant c.894dup (p.Val299Cysfs*39) and POLE with the variant c.2276G>A (p.Arg759His). She opted to go home on a home per request basis. The patient followed-up at the clinic after two weeks; she was started on Sirolimus 2mg once daily by her private medical oncologist. She reported an improved overall well-being.
Conclusions: Among patients with TSC with renal masses, angiomyolipoma should be a differential as this may lead to a life-threatening complication which is hemorrhage. It is also important to obtain a thorough family history so as to have the members also suspected of having the disorder be screened and have counseling.


Biography:
A third year Internal Medicine resident training in the Philippine General Hospital with a Bachelor Degree in Biology.

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