Introduction

Tuberous Sclerosis Complex (TSC) is a genetic disorder characterized by the growth of hamartomas virtually any organ in the body (mostly in the brain, skin, heart, kidneys, and lungs). Recent prevalences estimates, from Ireland and Taiwan, TSC of 1:14,000-25,000 in individuals, which is below from older estimates of 1:10,000 [1]. TSC is caused by heterozygous mutations in TSC1 or TSC2 genes [2]. Renal Angiomyolipomas (RAML) associated with Tuberous Sclerosis Complex (TSC-RAML) is characterized as multiple and commonly bilateral lesions that consist of blood vessels, smooth muscles, and adipose tissues. RAML develops in approximately 80% of patients with TSC and a major criterion for diagnosis [3]. Although it is defined as a benign lesion, it can be fatal due to bleeding and perforation, especially in lesions above 4 cm [4]. The most important goal in treatment is to protect kidney function and prevent complications that may cause mortality. Radical surgical techniques such as total nephrectomy may be needed for life-threatening conditions, but nephron-sparing surgery should be performed for complications whenever possible. Mammalian rapamycin target (mTOR) pathway inhibitors are noninvasive and reliable drugs that provide TSC-RAML volume control and reduce the rate of serious complications. The International tuberous sclerosis complex consensus conference held in 2012 recommended mTOR inhibitors as the first-line treatment for RAML when enlarged to 3 cm or more, even when asymptomatic [5] everolimus is the first drug that received U.S. Food and Drug Administration approval for this indication.

Case Report

We here in report the clinical course and treatment of two patients with giant RAML.

Case 1

24 years old male patient, diagnosed with tuberous sclerosis, epilepsy, hypogammaglobulinemia, hypertension, diabetes mellitus, autism and hypothyroidism. The patient was using intravenous immunoglobulin, levothyroxine sodium, nifedipine, vigabatrin, oxcarbazepine, lamotrigine, enalapril, clobazam, metformin, sertraline, risperidone and tmp-smx due to additional comorbidities. Three years ago, partial nephrectomy was performed due to ruptured renal angiomyolipoma (approximately 20 cm) in the right kidney. Postoperative computed tomography (CT) imaging showed bilateral multiple RAMLs which the largest one is 46 × 47 mm sized and an angiomyolipoma with a diameter of 26 mm in the left adrenal gland. Everolimus was started at a dose of 10 mg/day. The dominant mass in the kidney had regressed to 38 × 38 mm and the mass in the suprarenal gland to 22 x 21 mm in the first follow-up imaging after treatment, lesion size remained stable in subsequent follow-ups. Everolimusrelated side effects were not detected during the follow-up in the patients and dose reduction was not required. Everolimus use continues in the 3rd year of follow-up