Giant angiomyolipoma in a tuberous sclerosis patient and review of the literature

Abstract

Introduction: About 20% of renal angiomyolipomas (RAML) are associated with tuberous sclerosis complex (TS). About 34–80% of patients with TS present with RAML. RAMLs associated with TS are at higher risk of potentially life-threatening hemorrhage and hypovolemic shock. Only a few case reports of giant RAML, defined as larger than 10 cm in diameter, and its management, have been reported.
Observation: We present a 21 year old woman with abdominal distension over the last 2 years. A contrastenhanced CT scan revealed a giant RAML on the left side. Based on the presence of at least 3 major features of the clinical diagnostic criteria of tuberous sclerosis complex, the diagnosis was made. An open nephrectomy was performed. Therapeutic options described in literature are conservative management, medical treatment with mTOR inhibitors, arterial embolization, radioablation and partial or total nephrectomy.
Conclusion: In giant TS-associated RAML total nephrectomy, rather than conservative treatment, is the treatment of choice in order to reduce the risk of potentially life-threatening bleeding.