Bilateral Renal Angiomyolipomas Research Articles

Selective angioembolization in symptomatic renal angiomyolipoma: A series of four cases along with review of literature

Abstract The management of renal angiomyolipoma (R-AML) should be characterized on the basis of symptoms and/or the presence of associated risk factors of hemorrhage. In total, four cases of large symptomatic R-AML were visited in our urology out-patient department within the 9-month period. They underwent selective angioembolization (SAE) and were followed up for at least 3 months. Case 1—A 40-year-old female with bilateral R-AML, largest 4 cm × 8 cm × 9 cm lesion on right kidney. Postangioembolization, she underwent a right partial nephrectomy and is in further follow-up with contrast-enhanced computed tomography of the kidney ureter bladder (KUB) region (CECT KUB). Case 2—A 36-year-old female had bilateral large R-AML associated with active bleeding and perinephric hematoma on her right side and underwent urgent SAE. Follow-up CECT KUB revealed bilateral large AML with no evidence of perinephric hematoma. Now, we are planning for a bilateral partial nephrectomy. Case 3—A 52-year-old female with symptomatic 54 × 53 mm left mid-pole R-AML. She developed postembolization syndrome and managed it conservatively. Follow-up CECT KUB revealed a marked reduction of the left R-AML lesion (1 cm × 1 cm). Case 4—A 41-year-old female with 44 mm × 40 mm exophytic upper pole right R-AML with active bleed underwent urgent SAE. Follow-up CECT KUB revealed right kidney AML lesion size reduction (27 mm × 28 mm) with no perinephric hematoma. SAE is better suited for AML with acute hemorrhage or patients with multiple comorbidities or multiple AML lesions. For large AMLs, SAE can also be used before surgery to decrease the size of tumors and the possibilities of procedural difficulty for nephron-sparing surgery.

Wunderlich syndrome secondary to bilateral renal angiomyolipoma

Wunderlich syndrome is understood as spontaneous subcapsular or perirenal renal hemorrhage of non traumatic etiology secondary in 63% of cases to neoplastic ethology.

Endovascular Treatment and Follow-up of Retroperitoneal Hemorrhage Caused by Bilateral Giant Renal Angiomyolipoma

Endovascular Treatment and Follow-up of Retroperitoneal Hemorrhage Caused by Bilateral Giant Renal Angiomyolipoma

Anesthetic management of a parturient with tuberous sclerosis for emergency cesarean section- a case report

BackgroundTuberous sclerosis is an autosomal dominant neurocutaneous disorder characterized by hamartoma formation in various organ systems leading to highly variable clinical presentation. These patients pose a challenge to anesthesiologists due to multisystem involvement.Case presentationHerein, we report the successful anesthetic management of a 25-year-old parturient with tuberous sclerosis who underwent an emergency cesarean section in view of cephalopelvic disproportion. She had a seizure disorder, bilateral renal angiomyolipomas, angiofibroma over the cheeks, periungual fibroma on the right toe, and nodular lesions near the base of the tongue and oropharynx. We opted for regional anesthesia to avoid airway instrumentation, drug interaction, and renal insult.ConclusionsAnesthetic management of tuberous sclerosis depends upon the extent and severity of the involvement of various organs. Careful assessment, thorough evaluation, and preoperative planning are crucial for dealing with the difficulties and complications encountered during the management of these cases.

Everolimus Treatment and Selective Artery Embolization Application in a Case of Tuberous Sclerosis-Related Bilateral Renal Angiomyolipoma

Everolimus Treatment and Selective Artery Embolization Application in a Case of Tuberous Sclerosis-Related Bilateral Renal Angiomyolipoma

A Clinical Challenge Case of Bilateral Giant Renal Angiomyolipoma Associated With Tuberous Sclerosis Complex

A 27-year-old female was referred to the urology clinic because of an incidentally found bilateral giant renal angiomyolipoma associated with tuberous sclerosis complex (TSC-RAML) discovered during workup for menorrhagia. Six years ago, she began to develop a bulging belly, which she thought was due to obesity. She had multiple angiofibromas on her face, multiple toenail fibromas on her toes (Fig. 1). Whole-genome sequencing analysis of plasma revealed pathogenic mutation of TSC2 gene (base change: C.1513C >T;amino acid change: p.R505X; Mutation abundance: heterozygous; GloriousMed Technology, China).

Analysis of renal lesions in Chinese tuberous sclerosis complex patients with different types of TSC gene mutations.

We sought to explore the relationship between renal lesion features and genetic mutations in tuberous sclerosis complex (TSC) patients. TSC patients with renal lesions were subjected to TSC1/2 gene next-generation sequencing (NGS). TSC1/2 mutation types and imaging examinations were screened for combined analysis of genetic and clinical features. Seventy-three probands among TSC patients with renal lesions were included. Twenty affected relatives were also included. In total, 93 patients were included. Eighty patients (86.0%) had bilateral renal angiomyolipomas (AMLs), and one had epithelioid AML. Two patients had polycystic kidney disease, one had renal cell carcinoma, and one had Wilms tumor. Among the 73 probands, four had TSC1 mutations, 53 had TSC2 mutations, and 16 had no mutations identified (NMI). There was no statistically significant difference between TSC1 mutation, TSC2 mutation and NMI group (P= 0.309), or between familial and sporadic groups (P= 0.775) when considering AML size. There was no statistically significant difference between pathogenic/likely pathogenic and benign/likely benign/NMI groups (P= 0.363) or among patients with different mutation types of TSC2 (P= 0.906). The relationship between the conditions of TSC gene mutations and the severity of renal lesions still needs more analysis. Patients with NMI, particularly those with familial disease, need more attention because the pathogenesis remains unknown.

Bilateral renal angiomyolipomas in tuberous sclerosis

BackgroundTuberous sclerosis complex (TSC) is a rare genetic disorder characterized by benign hamartomas in multiple organs of the body. Renal angiomyolipomas (AML) are commonly associated with TSC. They are mostly asymptomatic. But large and rapidly growing AMLs with the presence of an aneurysm cause symptoms and pose a life-threatening risk for hemorrhage.Case presentationOur patient is a 25-year-old female who presented to us as an undiagnosed case of tuberous sclerosis having a large abdominal mass. She fulfilled the clinical criteria required for the diagnosis of TSC. The CT scan revealed an 18 × 13 × 33 cm fat-containing lesion in the right kidney with an adjacent aneurysm measuring around 16 cm in diameter. Due to the large size of the AML and associated aneurysm, surgical exploration was mandated. On the contralateral kidney, multiple contrast-enhancing soft-tissue densities were present that appeared suspicious on radiology. So a percutaneous biopsy of those lesions was done. Fortunately, it had the same histopathology as an Angiomyolipoma. Nephrectomy of the right-sided kidney with AML has been done. The left-sided lesions that are less than 2 cm and asymptomatic are kept on close surveillance. Any change in size will prompt therapy with mTOR inhibitors.ConclusionWhen dealing with bilateral renal AML, it is important to adopt a conservative approach. When intervention is indicated, the least invasive strategy should be sought and enacted. Radical surgery should be the last resort.

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.

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.

Abdominal ultrasonographic manifestations in pediatric patients with tuberous sclerosis complex.

BackgroundTuberous sclerosis complex (TSC) is a rare genetic disease which leads to formation of benign tumors in the brain and other organs of the body. Ultrasound (US) can detect the location, quantity, size and internal echo of TSC-associated renal diseases, liver angiomyolipoma (AML), and co-existing lesions, providing important diagnostic basis for clinical diagnosis. The aim of the present study was to investigate the abdominal ultrasonographic features of pediatric TSC and explore the advantages of abdominal ultrasonography in clinical practice.MethodsData of children with TSC, who presented to the Second Affiliated Hospital and Yuying Children’s Hospital, Wenzhou Medical University, between January 2016 and November 2018, were analyzed by a retrospective chart review. The cases were identified from electronic medical records (EMR) system and underwent ultrasonography, we yielded a total of 12 patients.ResultsThe 12 pediatric patients, including 5 boys and 7 girls, ranged in age from 9 months to 13 years old. And they all had a history of epilepsy. All the patients underwent brain magnetic resonance imaging (MRI) or computed tomography (CT) examination, which revealed a scattered distribution of multiple hyperintense nodules. Of the 12 patients, 10 had TSC-associated bilateral renal AMLs, 5 had hepatic AML, and 4 had renal cysts.ConclusionsUS is a useful and non-invasive tool for the detection of TSC-associated renal and liver lesions and for clinical follow-up among pediatric patients.

EXTRAPULMONARY PRESENTATION OF ASYMPTOMATIC MALE IN LYMPHANGIOLEIOMYOMATOSIS

SESSION TITLE: Medical Student/Resident Diffuse Lung Disease SESSION TYPE: Med Student/Res Case Rep Postr PRESENTED ON: October 18-21, 2020 INTRODUCTION: Lymphangioleiomyomatosis (LAM) is a rare multisystem disease that affects almost exclusively women in the reproductive age that can occur sporadically or in association with tuberous sclerosis (TB). LAM is characterized by invasion of the lungs and axial lymphatics by smooth muscle like cells termed LAM cells which have mutations in TSC1 or more commonly TSC2 resulting in activation of mTOR, abnormal cellular growth and migration. LAM commonly presents with dyspnea, recurrent pneumothorax and in some cases respiratory failure. Diagnosis is made by a combination of clinical features and the finding of thin walled cysts on CT scanning. In case of doubt, lung biopsy can be made for diagnosis with smooth muscle actin and HMB45 positive cells. Forty percent of patients have renal angiomyolipoma. Treatment is predominantly supportive with oxygen, bronchodilators and sometimes lung transplantation. CASE PRESENTATION: 41 y/o male patient with PMHx of epilepsy presents with abdominal pain that started 4 days ago. Pain was localized on left lower quadrant and left flank, non-radiating, pulsatile with 10/10 intensity and was associated with diarrhea and fever. Physical examination was remarkable for nasal angiofibromas, palpable mass on left lower quadrant and ash leaf spots on lower limbs. Abdominal-Pelvic CT Angiogram was remarkable for multiple bilateral renal angiomyolipomas, largest in the left kidney measuring 20 cm in size with an area of 15 cm of acute hemorrhage. Patient underwent endovascular embolization of renal arteries with no further complications. Due to findings on Abdominal-Pelvic CT Scan consistent with Tuberous Sclerosis, Chest CT Scan was ordered and remarkable for cystic changes in lungs and sclerotic bone lesions. These findings were pathognomonic of LAM and tissue biopsy was not necessary for diagnosis. DISCUSSION: Our patient represents a rare presentation of LAM in male patients; LAM is historically considered uncommon and fatal disease of women of childbearing age. The prevalence of LAM is thought to be 1 to 2.6 patients in 1,000,000 in the general female population. Our case presents a male with a rare disease diagnosed incidentally due to abdominal pain. Patient never presented with respiratory symptoms. Renal angiomyiolipoma could be an incidental finding on most patients. Our case demonstrates an atypical gender presentation with extra pulmonary symptoms that are unusual in LAM. CONCLUSIONS: The fact that this rare and uncommon disease presents in women is not exclusive to this gender. When exploring LAM as a differential diagnosis, males should be included. Reference #1: Johnson, S. R. (2006). Lymphangioleiomyomatosis. European Respiratory Journal. doi:10.1183/09031936.06.00113303 Reference #2: Rhee, J. A., Adial, A., Gumpeni, R., & Iftikhar, A. (2019). Lymphangioleiomyomatosis: A Case Report and Review of Literature. Cureus, 11(1), e3938. https://doi.org/10.7759/cureus.3938 Reference #3: Kristof AS, Moss J. Lymphangioleiomyomatosis. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:395-6. DISCLOSURES: No relevant relationships by Sandra Galarza-Vargas, source=Web Response No relevant relationships by Claudia Quiles, source=Web Response No relevant relationships by Jose Torres, source=Web Response

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.

Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients.

The germline mutation of the TSC1/2 gene in bilateral renal angiomyolipomas is unclear. Meanwhile, the mutation spectrum of Chinese TSC patients has not been revealed. We recruited 78 patients diagnosed with bilateral renal AMLs. High-throughput sequencing was used to detect any variants in TSC1/2 genes. The results showed that 28.6% of patients diagnosed before 45 were with positive results of TSC1/2 test. The rate decreased to 14.3% for those with onset age over 45. For the 315 previously reported Chinese patients, TSC1 patients were more likely to be affected by nonsense mutations (51.1% vs. 20.7%, p<0.001) and had a significantly higher rate of family history than TSC2 patients (37.8% vs. 19.6%, p=0.0067). Moreover, exon8, 15, and 18 were the hotspot mutation regions for TSC1, and exon 29, 33 and 40 were the most common mutation regions for TSC2. Besides, Chinese TSC patients carried more TSC2 alterations (85.7% vs.76.2%, p<0.001), and were more likely to have a family history than those from TOSCA (22.2% vs. 13.9%, p<0.001). In conclusion, patients affected by bilateral renal AMLs should receive genetic testing of TSC ½ genes and Chinese TSC patients have relatively hotspot mutation regions, which are helpful to genetic counseling and clinical decision making.

Bilateral sporadic renal angiomyolipoma - Ultrasonography and computed tomography imaging

Bilateral sporadic renal angiomyolipoma - Ultrasonography and computed tomography imaging

A Case of Perivascular Epithelioid Cell Tumor (PEComa) of the Uterus Associated with Tuberous Sclerosis Complex Diagnosed by Intra-Abdominal Bleeding from the Uterus

We report a case of perivascular epithelioid cell tumor (PEComa) of the uterus associated with tuberous sclerosis complex discovered as a result of intraabdominal bleeding. A 54-year-old woman visited the department of obstetrics and gynecology with chief complaints of genital bleeding and abdominal pain lasting three weeks. Abdominal computed tomography (CT) revealed intraabdominal bleeding from the uterine corpus. She had a history of bilateral renal angiomyolipoma, which was treated with partial bilateral nephrectomy at age 25. Moreover, pulmonary lymphangioleiomyomatosis was diagnosed at age 43. Both conditions were detected by the CT scan during this hospitalization. Immediately after the CT scans, the patient entered a state of hemorrhagic shock, and we performed an emergency simple total hysterectomy. Histopathological examination on the resected specimen yielded a diagnosis of uterine perivascular epithelial cell tumor (PEComa). After making a definitive diagnosis of tuberous sclerosis complex (TSC), systemic evaluation was performed. As a result, multiple skin and intracranial lesions characteristic of TSC were identified and we stated administration of everolimus.

Retinal astrocytic hamartoma in tuberous sclerosis complex in an elderly person: a case report

BackgroundSpectral domain optical coherence tomography (SD-OCT) is proposed as a way of predicting the development and likelihood of retinal astrocytic hamartoma (RAH) in tuberous sclerosis complex (TSC) in elderly patients.Case presentationThis report describes a case of RAH in TSC in an elderly patient. The patient was a 62-year-old woman and experienced pain in the lower left abdomen for two years. Bilateral renal angiomyolipoma, multiple hepatic angiomyolipoma and multiple pulmonary nodules were demonstrated using computed tomography (CT). Brain CT showed bilateral multiple calcification near by the cella lateralis. A clinical diagnosis of TSC was made. Visual acuity (decimal) in the right and left eye was determined to be 0.6 and 0.8, respectively. SD-OCT revealed a retinal tumour in the inner layer of the retina in the right fundus and a pre-retinal membrane which may have evolved later.ConclusionsA routine ophthalmic examination is advised for patients suspected of having TSC to prevent this condition from being overlooked. In addition, an OCT examination can be used to predict the development and likelihood of RAH.