POS-429 A RARE VARIANT OF GENETICALLY CONFIRMED TUBEROUS SCLEROSIS COMPLEX PRESENTING WITH BILATERAL RENAL ANGIOMYOLIPOMA IN WUNDERLICH SYNDROME

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with a prevalence of approximately 1 to 6,000-12,000 worldwide. Renal angiomyolipoma (AML) associated with TSC is often life-threatening due to the greater propensity to develop hemorrhage. A rare condition associated with it is the Wünderlich syndrome (WS), atraumatic renal hemorrhage into the subcapsular and perirenal spaces. We present a case of a patient who presented with the cutaneous and renal features of TSC with bilateral AML in Wünderlich syndrome. Case Report A 28-year-old female was admitted for non-traumatic right flank pain. She presented with the classic cutaneous features of TSC: hyperpigmented skin papules located on the center area of her face, periungual angiomas, and angiofibroma (Figure 1). She was also unable to finish high school. She previously consulted another hospital where a whole abdominal ultrasound was done, revealing a complex retroperitoneal mass on the right measuring 14.9 x 9.3 x 14 cm. She was then advised urologic evaluation and transferred to our institution. She had no dysuria, hypogastric pain, nor hematuria. Physical examination revealed her abdomen was enlarged and a right flank mass (doughy, round, non-tender, measuring 3 cm x 3 cm) was palpated. She was hypotensive on admission and required aggressive resuscitation. Abdominal computed tomography (CT) with contrast showed bilaterally enlarged kidneys and fluid collection (611 mL) in the right perirenal space (Figure 2). The Urology service at the time opted to observe the patient (no surgical plans) at the time since there was no evidence of active hemorrhage. The consideration was an angiomyolipoma in Wünderlich syndrome (shock, flank mass, flank pain). Genetic testing of TSC related genes revealed mutations in the TSC2 gene (loss-of-function variant), consistent with tuberous sclerosis complex. Genetic counseling was rendered to the patient and her immediate family. Furthermore, echocardiography with doppler studies, cranial and chest CT with contrast done were all unremarkable. She opted to be discharged against medical advice and was scheduled for a close outpatient follow-up. She was sent home on sirolimus 2 mg once daily. On her follow-up two weeks post-discharge, she reported improved overall well-being and a subjective decrease in the right flank mass. In summary, the diagnosis of TSC should be considered in young females of Southeast Asian descent presenting with multiple dermatologic lesions and multiple renal masses and development delay. Particularly, in those presenting with renal angiomyolipoma are at high risk for developing life-threatening hemorrhage. Hence, timely and appropriate management is needed (i.e. embolization, nephrectomy, or chemotherapy). Also, a thorough workup must be done to rule out the involvement of vital organs (i.e. cardiac rhabdomyoma, and intracranial space-occupying lesions. Lastly, it should be emphasized that early recognition of the disease and its manifestations is the keystone of the prevention of these fatal complications.