SESSION TYPE: Miscellaneous Student/Resident Cases I
PRESENTED ON: Tuesday, October 23, 2012 at 11:15 AM - 12:30 PM
INTRODUCTION: Tuberous sclerosis complex (TSC) is an inherited disorder that results in formation of benign hemartomas in multiple organs. We report a rare case highlighting the unique array of multiorgan involvement in TSC and the dilemma associated with management massive renal angiomyolipomas (AMLs).
CASE PRESENTATION: A 28 year-old female with a history of seizure disorder and developmental delay presented with a two-week history of abdominal fullness, and two days of acute dyspnea and chest pain. Initial vital signs were normal. Examination was notable for decreased breath sounds at the left apex, a palpable mass in the left abdomen, and numerous ophthalmic and dermatologic findings consistent with TSC. Laboratory findings were within normal limits. Chest x-ray showed a moderate-sized left pneumothorax. CT chest, abdomen and pelvis was notable for diffuse cystic lung disease, a left-sided pneumothorax, and massive bilateral renal AMLs--the largest measuring 16 cm x 16 cm x 12 cm (Figures 1,2). Further imaging, including brain CT/MRI and echocardiography, revealed numerous manifestations characteristic of TSC. A chest tube thoracostomy was performed with resolution of the pneumothorax. The patient continued to experience significant abdominal pain. Therefore, a multidisciplinary approach was pursued--with input from numerous services--and the patient was placed on sirolimus for 12-months prior to consideration for embolization and debulking surgery.
DISCUSSION: Angiomylolipomas are slow growing tumors often associated with TSC. While benign, these tumors can become symptomatic when they achieve extremely large sizes. Tumor size is correlated with increased risk of aneurysm and rupture. In addition, tumors can undergo malignant transformation and is associated with renal cell carcinoma. There are several indications for treatment, including suspicion of malignancy, alleviation of refractory pain and hemorrhage. The goal of therapy is to spare the kidneys. Transcatheter embolization has been shown to reduce tumor size by >50 percent, with preserved renal function. The use of sirolimus, an immunosuppressant that targets mTOR, has also been shown to be effective in reducing tumor size by half. In our patient, given the extreme size of her AMLs, the treatment decision was based on using a multi-modal approach with sirolimus followed by embolization and/or surgical resection.
CONCLUSIONS: The management of massive renal AMLs associated with TSC is complex and requires a multidisciplinary approach. This includes numerous treatment modalities aimed at achieving reduction in tumor size and ultimately decreasing the risk of untoward complications.
1) Yamakado Y, Naoshi T, et al. Renal angiomyolipoma: relationships between tumor size, aneurysm formation, and rupture. Radiology 2002; 225(1):78-82.
2) Williams JM, Racaidio JM, et al. Embolization of renal angiomyolipomata in patients with tuberous sclerosis complex. Am J Kidney Dis 2006; 47(1):95-102.
DISCLOSURE: The following authors have nothing to disclose: Kelvin Chan, Nader Kamangar
No Product/Research Disclosure InformationOlive View-UCLA Medical Center, Sylmar, CA