Bilateral Angiomyolipomas Research Articles

Development and internal validation of a clinical risk score to predict incident renal and pulmonary tumours in people with tuberous sclerosis complex

ObjectiveThis study aims to develop and internally validate a clinical risk score to predict incident renal angiomyolipoma (AML) and pulmonary lymphangioleiomyomatosis (LAM) in people with tuberous sclerosis complex (TSC).Study designData...

A Life-threatening Case of Giant Bilateral Renal Angiomyolipoma: A Case Report

Renal angiomyolipoma (AML) is a rare tumor with an incidence of 0.3% - 3%. We reported a case of a 41-year-old male patient who presented with gross hematuria and hemorrhagic shock, due to a right giant angiomyolipoma he underwent urgent right nephrectomy by subcostal laparotomy, total weight of the mass was 6 Kg, histological examination concluded in a renal angiomyolipoma. Treatment of renal AML depends on the clinical presentation, tumor size, and single or multiple lesions: single small (< 4 cm) asymptomatic lesions require only clinical and radiological follow-up, however giant symptomatic (hematuria), life-threatening masses require urgent multidisciplinary treatment and especially surgery. Giant renal bilateral AML is very rare, conservative treatment in the absence of hemorrhage should always be first proposed to preserve renal function as possible.

Safety and Efficacy of Cryotherapy for the Treatment of Renal Angiomyolipoma Related to Tuberous Sclerosis Complex: The Cryo-TSC Study

Purpose: Tuberous sclerosis complex (TSC) is a rare autosomal dominant inherited disease, in which approximately 60% to 80% of patients have bilateral angiomyolipoma (AML). There is a need for repeatable local treatments of TSC-AML. Cryotherapy is an option for renal tumors; however, its safety and efficacy for vascular tumors, such as TSC-AML, are unclear. The aim of this study was to establish the safety and efficacy of cryotherapy for TSC-AML. Materials and Methods: This was an open-label, single-arm, prospective phase II study to evaluate the safety and efficacy of cryotherapy for TSC-AML of ≤ 4 cm. Cryotherapy was performed using the CryoHit device with a percutaneous approach. Safety was assessed 1, 2, 6, and 9 months after cryotherapy, and efficacy was assessed 3 and 9 months after cryotherapy. The efficacy of cryotherapy was evaluated using the modified RECIST or RECIST criteria by independent central review. The primary end point was the disease control rate, and secondary end points were the overall response rate, safety, renal function, quality of life, and whether additional treatment was required. Results: The disease control rate was 100%, and the overall response rate was 93.3%. After 9 months of follow-up, the median estimated glomerular filtration rate decreased slightly (from 89.2 mL/min/1.73 m2 to 79.4 mL/min/1.73 m2). Quality of life was stable, and no additional treatment was needed. Three Grade 3 adverse events (hematuria, chronic kidney disease, and elevated aspartate aminotransferase) were observed in 3 patients, respectively, but no additional treatments were required. Conclusions: Cryotherapy for TSC-AML can be performed safely and efficiently. Cryotherapy can be a new therapeutic option for TSC-AML. Trial Registration Number: jRCTs072200039.

Evaluation of the safety and effectiveness of cryoablation in the treatment of renal angiomyolipoma related to tuberous sclerosis complex: The Cryo-TSC.

669 Background: Tuberous sclerosis complex (TSC) is an autosomal dominant inherited disease. Approximately 60%–80% of patients with TSC have bilateral angiomyolipoma (AML). Cryotherapy is one treatment option for renal tumors, but the safety and efficacy of cryotherapy for TSC–AML is not clear. We planned this study to establish the safety and efficacy of cryotherapy for TSC–AML. Methods: This was an open-label, single-arm phase II study to evaluate the safety and efficacy of cryotherapy for TSC–AML of 4 cm or less in diameter in patients at least 16 years old. The exclusion criteria were an inability to withdraw from mTOR inhibitor and failure to maintain rest during cryotherapy. mTOR inhibitors were withdrawn at least 7 days prior to cryotherapy and discontinued during the study period. Cryotherapy was performed using Cryohit (Galil Medical LTD, USA). Safety was assessed at 1, 2, 6, and 9 months after cryotherapy, and efficacy was assessed at 3 and 9 months after cryotherapy. The efficacy of cryotherapy was evaluated according to the modified RECIST or RECIST criteria. The primary endpoint was the disease control rate, and secondary endpoints included the overall response rate, safety, renal function, quality of life, and need for additional treatment. Results: The disease control and overall response rates were 100% and 93.3%, respectively. After 9 months of follow-up, the median creatine level was slightly increased by 0.06 mg/dL. Quality of life was stable, and no additional treatment was needed. Three Grade 3 adverse events (hematuria, chronic kidney disease, and aspartate aminotransferase elevation) were observed in three patients. Conclusions: Cryoablation is a safe and effective treatment option for TSC–AML. Clinical trial information: jRCTs072200039 .

Разрыв ангиомиолипомы почек при ее бессимптомном течении у пациента с обострением хронического пиелонефрита (клинический случай)

This research is devoted to the study and analysis of the clinical case of a patient with multiple bilateral angiomyolipoma of the kidneys. This tumor formation usually proceeds asymptomatically for several years. The causes include hereditary factor, hormonal failures, chronic inflammatory diseases of the genitourinary system. With a tumor growth of more than 5 cm, the risk of spontaneous rupture of the neoplasm wall with the development of retroperitoneal bleeding, which can turn into hemorrhagic shock, significantly increases. Diagnostics is performed by means of palpatory examination, ultrasound examination of the kidneys, computed tomography, magnetic resonance imaging, radiopaque angiography, biopsy with histological examination of tissues. In the absence of a detailed clinical picture, treatment is limited to observation, surgical treatment is carried out exclusively according to indications. With the combined asymptomatic course of angiomyolipoma with acute or chronic kidney diseases, a comprehensive laboratory and instrumental diagnosis is necessary at the early stages of the examination. There are rare cases when it is impossible to diagnose angiomyolipoma by the above methods, therefore it is necessary to conduct computed tomography or magnetic resonance imaging with contrast. In case of rupture of the tumor with the formation of a shock state, it is necessary to carry out resuscitation measures followed by emergency nephrectomy or resection of the kidney and further treatment of the patient in the intensive care unit.

The association of neurodevelopmental abnormalities, congenital heart and renal defects in a tuberous sclerosis complex patient cohort

BackgroundTuberous sclerosis complex (TSC) is a rare multi-system genetic disorder characterised by the presence of benign tumours throughout multiple organs including the brain, kidneys, heart, liver, eyes, lungs and skin, in addition to neurological and neuropsychiatric complications. Intracardiac tumour (rhabdomyoma), neurodevelopmental disorders (NDDs) and kidney disorders (KD) are common manifestations of TSC and have been linked with TSC1 and TSC2 loss-of-function mutations independently, but the dynamic relationship between these organ manifestations remains unexplored. Therefore, this study aims to characterise the nature of the relationship specifically between these three organs’ manifestations in TSC1 and TSC2 mutation patients.MethodsClinical data gathered from TSC patients across South Wales registered with Cardiff and Vale University Health Board (CAV UHB) between 1990 and 2020 were analysed retrospectively to evaluate abnormalities in the heart, brain and kidney development. TSC-related abnormalities such as tumour prevalence, location and size were analysed for each organ in addition to neuropsychiatric involvement and were compared between TSC1 and TSC2 mutant genotypes. Lastly, statistical co-occurrence between organ manifestations co-morbidity was quantified, and trajectories of disease progression throughout organs were modelled.ResultsThis study found a significantly greater mutational frequency at the TSC2 locus in the cohort in comparison to TSC1. An equal proportion of male and female patients were observed in this group and by meta-analysis of previous studies. No significant difference in characterisation of heart involvement was observed between TSC1 and TSC2 patients. Brain involvement was seen with increased severity in TSC2 patients, characterised by a greater prevalence of cortical tubers and communication disorders. Renal pathology was further enhanced in TSC2 patients, marked by increased bilateral angiomyolipoma prevalence. Furthermore, co-occurrence of NDDs and KDs was the most positively correlated out of investigated manifestations, regardless of genotype. Analysis of disease trajectories revealed a more diverse clinical outcome for TSC2 patients: however, a chronological association of rhabdomyoma, NDD and KD was most frequently observed for TSC1 patients.ConclusionsThis study marks the first empirical investigation of the co-morbidity between congenital heart defects (CHD), NDDs, and KDs in TSC1 and TSC2 patients. This remains a unique first step towards the characterisation of the dynamic role between genetics, heart function, brain function and kidney function during the early development in the context of TSC.

Giant Bilateral Angiomyolipoma Associated with Tuberous Sclerosis of Bourneville: Exceptional Case and Therapeutic Dilemma

Angiomyolipoma (AML) is a mesenchymal tumour composed of variable proportions of adipose tissue and vascular and smooth muscle elements. It can cause potentially life-threatening complications.
 This report aims to describe a bilateral angiomyolipoma associated with tuberous sclerosis of Bourneville; the second aim is to discuss the treatment modalities of this disease.
 A 51-year-old woman with abdominal mass and characteristic triad: Epilepsy, mental retardation and skin lesions (adenoma) (Fig. 1), with no notion of hematuria or abdominal pain, abdominal ultrasonography and computed tomography showing bilateral renal masses of 28.4×17 cm on the left kidney and 22× 11.7 cm on the right, respectively (Fig. 2-3). Serum creatinine was 13.4g/l.
 Body-scan imaging finds cardiac rhabdomyoma (Fig. 4) and brain calcifications (Fig. 5). the patient underwent surveillance with scan imaging every month, and at the last control, she was asymptomatic, serum creatinine was still normal. The management of giant bilateral AML is a complex and multifactorial decision. Patients can knowingly choose an active surveillance program, even with giant AML, but the economic situation and mental status can limit the therapeutic choice.

Renal angiomyolipoma and tuberous sclerosis complex: long-term safety and efficacy outcomes of Everolimus therapy

IntroductionRenal angiomyolipoma is a frequent manifestation of Tuberous Sclerosis Complex (TSC), for which everolimus therapy has been recently established as a novel non-invasive therapeutic option. As there are limited real life and long-term data, the analysis of our experience provides added value in terms of safety and efficacy. Material and methodsDescriptive analysis of our experience in patients with giant bilateral renal angiomyolipomas, in the context of TSC, treated with 10 mg oral everolimus daily, during a median of 71.5 months. We evaluated the following parameters: response rate and duration, reduction of kidney size and lesions, prevention of complications and presentation of toxicity and its cause. ResultsWe confirm the effectiveness of treatment in 4 young patients, with multiple, bilateral angiomyolipomas of a median of 12 (5–19) cm maximum diameter, from June 2013 to date, after continuous reduction in lesion size, a decrease of 30% of the volume in 75% at six months and 50% in half of the subjects at two years, still showing drug response. Absence of complications such as bleeding or glomerular filtration rate decline in the long term, with a favorable safety profile, without interruptions and with mild-moderate, non-cumulative adverse effects, mostly within the first year of treatment. ConclusionEverolimus is a safe and effective therapeutic option for renal angiomyolipoma and various manifestations of TSC, which has been reproduced in real life with six years of follow-up.

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

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.

Bilateral renal angiomyolipomas and subependymal giant cell astrocytoma associated with tuberous sclerosis complex: A case report and review of the literature

Tuberous sclerosis complex (TSC) is an autosomal-dominant multi system disorder. The genetic basis of the disorder is mutations in the TSC1 or TSC2 gene, which leads to over activation of the mammalian target of rapamycin (mTOR) protein complex and results in development of benign tumors in different body systems such as brain, skin, lungs and kidney. The mTOR inhibitors are presently the main treatment option for patients with TSC. We here report a 21-year female patient with large bilateral angiomyolipoma (AML) in both kidneys with longest diameter more than 12.3 cm and subependymal giant cell astrocytoma (SEGA). Treatment with everolimus (EVE) was initiated at a dose of 10.0 mg/day and continued during the following 3 years. Magnetic resonance imaging (MRI) was performed before treatment with everolimus was initiated, and consequently at 12 and 36 months for follow-up of the efficacy of the treatment. After 3 years, the total size of largest AML decreased by ~24.0% in the longest diameter. A reduction of the total size of SEGA was also observed. The most common adverse effect of treatment was stomatitis grades 3 to 4 and one febrile episode associated with skin rash that required a reduced dose of EVE. In conclusion, the everolimus treatment improved even such a large renal AML and the effect persisted during the long-term administration with a small number of adverse effects. A positive effect was observed on the brain tumor as well.

Angiomiolipoma renal y complejo esclerosis tuberosa: resultados a largo plazo en seguridad y eficacia de terapia con everolimus

IntroductionRenal angiomyolipoma is a frequent manifestation of Tuberous Sclerosis Complex (TSC), for which everolimus therapy has been recently established as a novel non-invasive therapeutic option. As there are limited real life and long-term data, the analysis of our experience provides added value in terms of safety and efficacy. Material and methodsDescriptive analysis of our experience in patients with giant bilateral renal angiomyolipomas, in the context of TSC, treated with 10 mg oral everolimus daily, during a median of 71.5 months. We evaluated the following parameters: response rate and duration, reduction of kidney size and lesions, prevention of complications and presentation of toxicity and its cause. ResultsWe confirm the effectiveness of treatment in 4 young patients, with multiple, bilateral angiomyolipomas of a median of 12 (5-19) cm maximum diameter, from June 2013 to date, after continuous reduction in lesion size, a decrease of 30% of the volume in 75% at six months and 50% in half of the subjects at two years, still showing drug response. Absence of complications such as bleeding or glomerular filtration rate decline in the long term, with a favorable safety profile, without interruptions and with mild-moderate, non-cumulative adverse effects, mostly within the first year of treatment. ConclusionEverolimus is a safe and effective therapeutic option for renal angiomyolipoma and various manifestations of TSC, which has been reproduced in real life with six years of follow-up.

Enhancing disease awareness for tuberous sclerosis complex in patients with radiologic diagnosis of renal angiomyolipoma: an observational study

BackgroundTuberous Sclerosis Complex (TSC) is a genetic disorder, with renal manifestations like angiomyolipoma (AML) occurring in 70–80% of patients. AML usually cause more complications in TCS patients than in non-TSC patients. However, AML patients are not routinely investigated for TSC. Our aim was to retrospectively assess the correlation between radiologically diagnosed AML and TSC.MethodsAll patients were stratified into AML related vs. unrelated to TSC. Correlations were calculated to determine the association between age, AML, and TSC.ResultsComplete data were available for 521 patients with renal AML, in 7 of which the concurrent diagnosis of TSC was found. Younger age significantly positively correlated with the prevalence of TSC in AML patients (p < 0.01). 37 (7%) of the 521 patients were within the age-range of 18–40 years, in which TSC occurred in 6 cases, 4 (66.7%) of which presented with multiple, bilateral renal AML (p < 0.05), and 2 (33.3%) of which with a single, unilateral AML (p < 0.05). In patients with AML but without TSC, unilateral AML was found in 83.9% and bilateral AML in 16.1% (p < 0.05). Simple binary logistic regression analysis revealed bilateral AML (OR 33.0; 95% CI 3.2–344.0; p = 0.003) (but not unilateral AML (OR 0.09; 95% CI 0.01–0.88; p = 0.04)) to be a risk factor for TSC.ConclusionsThe presence of bilateral AML in patients within the age-range of 18–40 years should raise suspicion for TSC as the underlying cause. Therefore, our advice is to refer patients with multiple bilateral renal AML for further investigations regarding TSC.

Wunderlich‘s syndrome in patient with sporadic bilateral angiomyolipomas – case report

We present the case report of bilateral renal angiomyolipomas in a 70-year-old patient. Spontaneous bleeding into the retroperitoneum and hemodynamic instability required an acute surgical revision with a left-sided nephrectomy. The contralateral angiomyolipoma was selectively embolized in the second period and subsequently resected.

Renal angiomyolipomatosis and bleeding aneurysms in a tuberous sclerosis context: selective artery embolization in a girl with end-stage renal failure.

Recent developments in endovascular radiological techniques and devices have rendered embolization a major therapeutic option prior to surgery in many renal vascular or neoplastic diseases. A 19-yearold female patient, with a diagnosis of tuberous sclerosis complex (TSC) in childhood, was admitted with severe anemia. Polycystic kidney disease in end-stage renal failure appeared four years before and the patient has been undergoing peritoneal dialysis. The patient’s medical history also included bilateral renal angiomyolipomas (AMLs). One year earlier, a unilateral endovascular embolization was performed to repair a bleeding aneurysm at the right renal upper pole. A second bilateral ruptured renal aneurysm was diagnosed at admission. To continue with peritoneal dialysis and prevent intrarenal hemorrhage and intraperitonal bleeding, an urgent bilateral renal AE was performed. Two months later she underwent a bilateral retroperitoneal nephrectomy. The posterior surgical approach, preserved the peritoneal surface area and adequate conditions to continue dialysis. At histology, bilateral AMLs were confirmed and a renal cell carcinoma of the right kidney was concurrently discovered. She undergoes continuous peritoneal dialysis. Urgent selective renal AE represents a feasible treatment for bilateral AML bleeding. It is safe and feasible before performing nephrectomy in patients with end-stage renal failure.

Living Donor Preemptive Kidney Transplantation in Tuberous Sclerosis Complex Patient and the Role of Mammalian Target of Rapamycin Inhibitor: A Case Report

BackgroundKidney transplantation (KT) is the preferred treatment for end-stage kidney disease (ESKD), while preemptive (PE) living donor (LD) KT is associated with better survival, quality of life, and lower costs. Tuberous sclerosis complex (TSC) is a genetic multisystem disorder. Renal involvement (multiple bilateral angiomyolipoma [AMLs], cysts, renal cell carcinoma [RCC]) is related to significant morbidity, including ESKD and KT. Nephrectomy in TSC patients before KT is controversial. Affected kidneys carry a risk of hemorrhage or malignancy, while AMLs may be fat-poor and are often hardly distinguishable from RCC in magnetic resonance (MR)/computed tomography. On the other hand nephrectomy impedes PE KT. Mammalian target of rapamycin inhibitors (mTORi) have proved efficacy in many TSC complications, including AMLs, fat-poor AMLs, TSC-related RCC, and immunosuppressive (IS) treatment. Case reportA 29-year-old female TSC patient was referred for evaluation to the TSC reference center. Her family history was negative for TSC. A clinical evaluation revealed multisystem TSC manifestation (skin, brain, lungs, kidneys). MR disclosed indeterminate fat-poor renal lesions, possibly AMLs, but RCC could not be excluded. A comparison with previous MR did not show any significant progression. Due to ESKD, the patient was qualified for PE LD (mother) KT. mTORi, sirolimus, was used in IS. Creatinine at discharge was 2.1 mg/dL. Sixteen months later, MR showed significant reduction in tumor size. Two years after KT, graft function remained stable (creatinine 1.98 mg/dL). No complications related to renal lesions occurred. ConclusionsmTORi are the therapy of choice in TSC patients after KT, achieving IS effect and improvement in TSC manifestations while avoiding nephrectomy and management of patients with indeterminate renal lesions, especially in the case of PE KT.

PD08-06 COMPARING OUTCOMES FOR RENAL ANGIOMYOLIPOMA TREATED WITH EMBOLIZATION, ABLATION OR SURGERY

PD08-06 COMPARING OUTCOMES FOR RENAL ANGIOMYOLIPOMA TREATED WITH EMBOLIZATION, ABLATION OR SURGERY

Tuberous Sclerosis Complex Associated Lymphangioleiomyomatosis Presenting with Spontaneous Pneumothorax and Renal Angiomyolipomas

Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder manifested by involvement of multisystem including skin, central nervous system, heart, kidneys and eyes. Lymphangioleiomyomatosis (LAM) is also a multisystem disorder that primarily affects the lungs. We report a case of tuberous sclerosis complex associated lymphangio-leiomyomatosis (TSC-LAM) in a 26-year-old female patient who was presented with spontaneous pneumothorax and renal angiomyolipomas. In clinical examination; We found multiple angiofibromas over her face, shagreen patches over upper and lower back and ungual fibromas in both fingers and toes. HRCT of chest revealed right sided pneumothorax with multiple thin walled cysts in both lungs. Ultrasonogram (USG) and Computer Tomography (CT) scan of abdomen revealed bilateral angiomyolipomas. We managed her pneumothorax with intercostal chest tube drainage and oxygen inhalation.&#x0D; Bangladesh Med J. 2019 May; 48 (2): 51-54

Disseminated Intravascular Coagulation After Embolization to Treat Acutely Bleeding Bilateral Massive Angiomyolipoma: A Case Report.

Background: Hemorrhage from an angiomyolipoma (AML) of the kidney can be life threatening and arterial embolization is the primary treatment. Embolization is less invasive than surgery, is well tolerated, and major complications are rare. We describe a case of disseminated intravascular coagulation (DIC) after embolization of a bleeding renal AML in a 44-year-old man with massive bilateral AMLs. This report aims to highlight the possibility that acute DIC could be a major complication of embolization itself and so should be considered and screened for because, if present, it requires early and aggressive management.Case Presentation: A 44-year-old man with a history of large bilateral renal AMLs associated with tuberous sclerosis complex presented with visible hematuria and abdominal pain. Renal CT revealed bleeding from the right kidney. Embolization with polyvinyl alcohol and lipiodol was urgently performed. The following day he required multiple blood transfusions and repeat embolization, this time with gelfoam and “tornado” coils. He suddenly developed DIC, cardiovascular collapse and acute renal failure requiring many days in the intensive care unit for inotropic support and renal replacement therapy.Conclusion: Arterial embolization may be associated with increased risk of DIC in the setting of treating large bleeding renal AMLs. DIC may be a direct or indirect complication of this. The clinician must act quickly to identify this and treat this complication aggressively.

Everolimus improved renal function without reducing the size of a kidney angiomyolipoma in a patient with tuberous sclerosis complex: a case report

BackgroundTuberous sclerosis complex is an autosomal dominant genetic disorder that affects multiple organ systems and can result in tumors in the brain, skin, heart, and kidneys; it may also cause neurological symptoms. About 1 to 7% of patients develop end-stage renal disease due to bilateral renal angiomyolipoma. We herein describe a patient with a bilateral large kidney angiomyolipoma whose residual renal function was temporarily improved with everolimus treatment.Case presentationA 39-year-old man was diagnosed with tuberous sclerosis complex associated with an angiomyolipoma that was first detected at 12 years of age and had enlarged to a size that completely filled the bilateral kidneys. Although his kidney function was poor at the start of everolimus treatment as indicated by a creatinine-based estimated glomerular filtration rate of 13.7 mL/min/1.73 m2, his kidney function recovered with an annual increase in the glomerular filtration rate of 4.57 mL/min/1.73 m2 without morphological changes or a reduction in the size of the angiomyolipoma after everolimus treatment. As a result, we were able to delay the initiation of renal replacement therapy for more than 1 year.ConclusionsEven in patients with tuberous sclerosis complex who exhibit decreased renal function, everolimus treatment can retain the renal function and delay introduction of dialysis without a reduction in the size of the renal angiomyolipoma. The pathophysiological mechanisms for the deterioration of renal function in patients with tuberous sclerosis complex may not involve renal parenchymal loss secondary to angiomyolipoma growth only but may also involve other mechanisms including glomerular hypertrophy and hyperfiltration associated with mTOR complex 1 overactivity.

Simultaneous presentation of Wunderlich's syndrome and thyroid nodule in a patient with Tuberous sclerosis: Are thyroid lesions a part of Tuberous Sclerosis Complex?

A multisystem involvement is seen in tuberous sclerosis with variety of manifestations, but thyroid lesions are rarely reported in this syndrome. Angiomyolipomas of the kidney are common in tuberous sclerosis, and when present are a significant cause of morbidity. Wunderlich’s syndrome is the most dreaded complication in such patients. We present the case of a 25-year-old male patient who had tuberous sclerosis and presented to us with flank pain and haematuria. On evaluation he was found to have bilateral angiomyolipomas along with a thyroid nodule and had Wunderlich’s syndrome.