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

2021 ◽  
pp. 17-21
Author(s):  
Benatta Mahmoud
Keyword(s):  
Serum Creatinine ◽  
Tuberous Sclerosis ◽  
Abdominal Mass ◽  
Left Kidney ◽  
Skin Lesions ◽  
Treatment Modalities ◽  
Surveillance Program ◽  
Abdominal Ultrasonography ◽  
Renal Masses ◽  
Cardiac Rhabdomyoma

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.

Multiple Bilateral Renal Angiomyolipomatosis in Patients with Tuborous Sclerosis

1996 ◽  
Vol 9 (5) ◽  
pp. 627-631
Author(s):  
I. Tsitouridis ◽  
A. Dimitriadis ◽  
K. Kouskouras ◽  
I. Economou ◽  
D. Kelekis
Keyword(s):  
Tuberous Sclerosis ◽  
Skin Lesions ◽  
Cystic Disease ◽  
Middle Aged ◽  
Renal Masses ◽  
Renal Cystic Disease ◽  
Multiple Renal Masses

Angiomyolipomas are benign hamartomatous lesions which occur mainly in the kidneys. They often arise in middle aged women and they most commonly present as solitary tumours of varying size, symptomatic or asymptomatic. They may also be found incidentally on sonography, CT or at autopsy. In 20% of the cases they coexist which CNS and skin lesions, thus presenting as tuberous sclerosis syndrome. In 80% of cases of tuberous sclerosis they are found as bilateral, multiple renal masses with or without renal cystic disease.

scholarly journals Huge Renal Angiomyolipoma in a Child with Tuberous Sclerosis Complex: A Diagnostic and Therapeutic Dilemma

2021 ◽  
Vol 5 (0-2) ◽  
pp. 26
Author(s):  
Sharifah NurDurrah Binti Syed Mudzhar ◽  
Mohd Yusran Othman
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Left Kidney ◽  
Abdominal Distension ◽  
Bleeding Risk ◽  
Subependymal Giant Cell Astrocytoma ◽  
Renal Angiomyolipoma ◽  
Cardiac Rhabdomyoma ◽  
Contralateral Kidney ◽  
Life Threatening

Tuberous Sclerosis Complex (TSC) is a rare neuro-cutaneous disorder that is associated with the development of benign hamartomas including renal angiomyolipoma (RAML). TSC associated RAML are usually asymptomatic, but it carries a life-threatening bleeding risk. We are sharing a case of a 5-year-old girl who was diagnosed to have TSC with associated subependymal giant cell astrocytoma, cardiac rhabdomyoma and autism. She presented with a history of worsening abdominal distension over 3 weeks duration and clinically noted to be pale with a ballotable left flank mass. Ultrasound and CT scan found to have multiple RAML in both kidneys with a huge mass on the left side. The mass represented a huge RAML (8cm) with aneurysmal formation with suspicion of intratumoral bleeding. The option of conservative management with mammalian target of rapamycin inhibitor followed with partial nephrectomy has been questioned with its life-threatening risk of bleeding and inability to do biopsy to rule out the possibility of renal cell carcinoma. Decision for nephrectomy was then made clearer following a MAG-3 scan which revealed only 11% differential function of the left kidney. She underwent a total left nephrectomy uneventfully and intraoperatively noted to have an enlarging lesion as compared to the previous imaging; 15cm in largest diameter. Histopathological finding was consistent with multifocal angiomyolipoma with intratumoral haematoma. Decision for nephrectomy in TSC-associated RAML need to be justified carefully in view of its risk of losing the contralateral kidney following the disease progression which may end up with life-long renal replacement therapy.International Journal of Human and Health Sciences Supplementary Issue-2: 2021 Page: S26

scholarly journals Composite renal cell carcinoma and angiomyolipoma in a patient with Tuberous sclerosis: A diagnostic dilemma

2015 ◽  
Vol 9 (7-8) ◽  
pp. 507 ◽  
Author(s):  
Aanchal Kakkar ◽  
Archana George Vallonthaiel ◽  
Mehar C. Sharma ◽  
Girdhar Bora ◽  
Ananya Panda ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Tuberous Sclerosis ◽  
Renal Cell ◽  
Abdominal Mass ◽  
Left Kidney ◽  
Young Male ◽  
Autosomal Dominant Disorder ◽  
Diagnostic Dilemma ◽  
Tomography Scan

Tuberous sclerosis (TS) is an autosomal dominant disorder associated with various renal pathologies, including angiomyolipoma (AML). Renal cell carcinoma (RCC) with concomitant AML is rare. We report a case of composite RCC and AML in a young male with TS. This 25-year-old male presented with an abdominal mass. The abdominal computed tomography scan revealed RCC in the left kidney and AML in right kidney. A left radical nephrectomy was performed. Microscopy showed a tumour composed of closely intermingled RCC and AML components. Immunohistochemistry was performed for confirmation. A diagnosis of composite tumour with clear cell RCC and AML was made. Though the coexistence of RCC with AML is rare, and the composite variant is even rarer, one must be aware of this entity to prevent misdiagnosis as well as upstaging of RCC, and also to avoid missing areas of RCC within a large AML, especially in TS patients.

scholarly journals A Wilms’ Tumor with Spinal Cord Compression: An Extrarenal Origin?

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
Audrey Petit ◽  
Amandine Rubio ◽  
Chantal Durand ◽  
Christian Piolat ◽  
Cécile Perret ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Spinal Cord Compression ◽  
Wilms Tumor ◽  
Abdominal Mass ◽  
Left Kidney ◽  
Rare Event ◽  
Cord Compression ◽  
Microscopical Examination ◽  
Large Tumor ◽  
Abdominal Ultrasonography

Spinal cord compression in Wilms’ tumor (WT) is an extremely rare event that can have a very poor prognosis if not taken care of rapidly. Most cases reported in the literature involve widely metastatic patient with bone or paraspinal metastases or occasionally intradural metastasis. Here, we present the case of a 3-year-old girl of WT confirmed by biopsy, with spinal cord compression due to the direct contiguous spread of a tumor through 2 vertebral foramina. Abdominal ultrasonography and magnetic resonance imaging performed for an abdominal mass revealed a large heterogeneous tumor near the upper pole of the left kidney. A nodular infiltration extended through the T11-L1 and L1-L2 neural foramina, forming an intraspinal mass that compressed the spinal cord. Major paresthesia subsequently occurred, requiring urgent treatment with corticosteroids and chemotherapy. The evolution was rapidly satisfying. After six courses of chemotherapy, a left nephrectomy was performed. Macroscopic examination identified a large tumor attached to the kidney without renal infiltration. Microscopical examination concluded to a nephroblastoma with regressive changes, of intermediate risk. Evolution at 6 months is satisfactory, with no neurological deficit. The histological aspect of the tumor and the clinical outcome suggest that she had an extrarenal WT that spread through the vertebral foramina and was secondarily attached to the kidney.

Angiomiolipoma renale: Nostra esperienza in 14 casi sottoposti a terapia chirurgica

1997 ◽  
Vol 64 (1_suppl) ◽  
pp. 117-122
Author(s):  
G. Deiana ◽  
D. Belussi ◽  
R. Hurle ◽  
A. Losa ◽  
E. Micheli ◽  
...  
Keyword(s):  
Ct Scan ◽  
Tuberous Sclerosis ◽  
Left Kidney ◽  
Correct Diagnosis ◽  
Diagnostic Error ◽  
Renal Angiomyolipoma ◽  
Retroperitoneal Hemorrhage ◽  
Renal Masses ◽  
Minimum Age ◽  
Operative Ultrasound

Renal angiomyolipoma (AML) is an uncommon hamartomatous benign tumour and may present in an isolated form or associated with tuberous sclerosis (Bourneville's disease). Since there is no specific symptomatology when dimensions are small or medium, discovery is often accidental and the tumour may sometimes grow to a considerable size. In the symptomatic forms or larger tumours, surgery may be indicated due to the risk of retroperitoneal hemorrhage, both spontaneous and secondary to lumbar trauma, however slight. As the tumour is benign, kidney-sparing surgery should be as conservative as possible. For this purpose, ultrasound and CT scan are considered essential for a differential diagnosis between AML and parenchymal renal masses. In our experience with 14 cases (12 women and 2 men; minimum age 31 years, maximum 62 years) of monolateral renal AML (10 right kidney AML and 4 left kidney AML) in patients not suffering from tuberous sclerosis, treated surgically between August 1988 and February 1997, the pre-operative ultrasound and CT scan gave a correct diagnosis in 7 cases, a suggestion of renal carcinoma in 5 cases while leaving doubts in 2 cases. The two methods of investigation therefore proved not to be error-free. Following instrumental diagnosis, 12 patients underwent enucleoresection of the tumour while the remaining two underwent extensive nephrectomy. The presence of hemorrhagic areas with AML was considered to be the frequent cause of pre-operative diagnostic error.

Renal Manifestations of Tuberous Sclerosis Complex

2020 ◽  
Vol 7 (3) ◽  
pp. 5-19
Author(s):  
Nikhil Nair ◽  
Ronith Chakraborty ◽  
Zubin Mahajan ◽  
Aditya Sharma ◽  
Sidarth Sethi ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Gene Disruption ◽  
Treatment Guidelines ◽  
Renal Cysts ◽  
Skin Lesions ◽  
Multiple Organ ◽  
Tsc2 Gene ◽  
Genetic Condition ◽  
Organ Systems

Tuberous sclerosis complex (TSC) is a genetic condition caused by a mutation in either the TSC1 or TSC2 gene. Disruption of either of these genes leads to impaired production of hamartin or tuberin proteins, leading to the manifestation of skin lesions, tumors and seizures. TSC can manifests in multiple organ systems with the cutaneous and renal systems being the most commonly affected. These manifestations can secondarily lead to the development of hypertension, chronic kidney disease, and neurocognitive declines. The renal pathologies most commonly seen in TSC are angiomyolipoma, renal cysts and less commonly, oncocytomas. In this review, we highlight the current understanding on the renal manifestations of TSC along with current diagnosis and treatment guidelines.

Clinical, cellular, and molecular characterisation of cardiac rhabdomyoma in tuberous sclerosis

2021 ◽  
pp. 1-9
Author(s):  
Hamood N. Al Kindi ◽  
Ayman M. Ibrahim ◽  
Mohamed Roshdy ◽  
Besra S. Abdelghany ◽  
Dina Yehia ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Clinical Features ◽  
Tuberous Sclerosis Complex ◽  
Potential Role ◽  
Severe Disease ◽  
Cardiac Rhabdomyoma ◽  
Urgent Surgery ◽  
Pathogenic Mutations ◽  
Personalised Treatment

Abstract Background: Rhabdomyoma is the most common cardiac tumour in children. It is usually associated with tuberous sclerosis complex caused by mutations in TSC-1 or TSC-2 genes. This tumour typically regresses by unknown mechanisms; however, it may cause inflow or outflow obstruction that necessitates urgent surgery. Here we investigate the clinical features and the genetic analysis of patients with tuberous sclerosis complex presenting with large rhabdomyoma tumours. We also investigate the potential role of autophagy and apoptosis in the pathogenesis of this tumour. Methods: All the patients with cardiac rhabdomyoma referred to Aswan Heart Centre from 2010 to 2018 were included in this study. Sanger sequencing was performed for coding exons and the flanking intronic regions of TSC1 and TSC2 genes. Histopathological evaluation, immunohistochemistry, and western blotting were performed with P62, LC3b, caspase3, and caspase7, to evaluate autophagic and apoptotic signaling. Results: Five patients were included and had the clinical features of tuberous sclerosis complex. Three patients, who were having obstructive tumours, were found to have pathogenic mutations in TSC-2. The expression of two autophagic markers, P62 and LC3b, and two apoptotic markers, caspase3 and caspase7, were increased in the tumour cells compared to normal surrounding myocardial tissue. Conclusion: All the patients with rhabdomyoma were diagnosed to have tuberous sclerosis complex. The patients who had pathogenic mutations in the TSC-2 gene had a severe disease form necessitating urgent intervention. We also demonstrate the potential role of autophagy and apoptosis as a possible mechanism for tumourigenesis and regression. Future studies will help in designing personalised treatment for cardiac rhabdomyoma.

scholarly journals Amikacin or Vancomycin Exposure Alters the Postnatal Serum Creatinine Dynamics in Extreme Low Birth Weight Neonates

2021 ◽  
Vol 18 (2) ◽  
pp. 662
Author(s):  
Tamara van Donge ◽  
Anne Smits ◽  
John van den Anker ◽  
Karel Allegaert
Keyword(s):  
Birth Weight ◽  
Low Birth Weight ◽  
Serum Creatinine ◽  
Potential Effect ◽  
Extremely Low Birth Weight ◽  
Treatment Modalities ◽  
Antibiotic Exposure ◽  
Sensitive Tool ◽  
Elbw Neonates ◽  
The Impact

Background: Disentangling renal adverse drug reactions from confounders remains a major challenge to assess causality and severity in neonates, with additional limitations related to the available tools (modified Kidney Disease Improving Global Outcome, or Division of Microbiology and Infectious Diseases pediatric toxicity table). Vancomycin and amikacin are nephrotoxic while still often prescribed in neonates. We selected these compounds to assess their impact on creatinine dynamics as a sensitive tool to detect a renal impairment signal. Methods: A recently developed dynamical model that characterized serum creatinine concentrations of 217 extremely low birth weight (<1000 g, ELBW) neonates (4036 observations) was enhanced with data on vancomycin and/or amikacin exposure to identify a potential effect of antibiotic exposure by nonlinear mixed-effects modelling. Results: Seventy-seven percent of ELBW patients were exposed to either vancomycin or amikacin. Antibiotic exposure resulted in a modest increase in serum creatinine and a transient decrease in creatinine clearance. The serum creatinine increase was dependent on gestational age, illustrated by a decrease with 56% in difference in serum creatinine between a 24 or 32-week old neonate, when exposed in the 3rd week after birth. Conclusions: A previously described model was used to explore and quantify the impact of amikacin or vancomycin exposure on creatinine dynamics. Such tools serve to explore minor changes, or compare minor differences between treatment modalities.

scholarly journals Characterization of Solid Renal Masses using 64-Slice Multidetector CT Scanner

2009 ◽  
Vol 9 ◽  
pp. 441-448 ◽  
Author(s):  
Saleh S. El-Esawy ◽  
Mohamed E. Abou El-Ghar ◽  
Ghada M. Gaballa ◽  
Saly A. Zahra
Keyword(s):  
Cell Carcinoma ◽  
Clear Cell ◽  
Multidetector Ct ◽  
Left Kidney ◽  
Ct Scanner ◽  
Renal Masses ◽  
Surgical Data ◽  
Attenuation Values ◽  
Mdct Scanner

The purpose of our study was to assess the role of a 64-slice multidetector CT (MDCT) scanner in the characterization of different solid renal masses, using a simplified approach to correct the postenhancement attenuation values. The study included 96 consecutive adults (58 men, 38 women) with renal masses; 93 with unilateral and three with bilateral masses. All of our patients underwent multiphasic CT study including pre- and postcontrast corticomedullary (CM) and nephrographic phases. We analyzed the images and corrected the postcontrast attenuation values at the CM phase. The postbiopsy or -surgical data were used as reference standard. There were 53 masses at the right kidney, 40 at the left kidney, and three bilateral. The final diagnosis of the 96 solid parenchymal masses were 28 clear-type renal cell carcinoma (RCC), 22 papillary-type RCC, 21 chromophobe-type RCC, six XP 11.2 chromosomal translocation–type RCC, 15 angiomyolipoma (AML), and seven oncocytoma. All the AML had fat, with attenuation values less than -40 HU at the nonenhanced scan. There is no difference in the precontrast attenuation values for the different types other than AML. At the postcontrast CM phase after the correction of the attenuation values, the clear cell type could be separated easily, with attenuation values >20 with specificity, sensitivity, and overall accuracy of 92, 84, and 93%, respectively. The 64-slice MDCT scanner with application of enhancement values correction allows diagnosis of clear cell carcinoma. Also, AML could be identified easily with fat inside at the precontrast scan.

scholarly journals Giant retroperitoneal lipoma: a case report

2003 ◽  
Vol 40 (4) ◽  
pp. 251-255 ◽  
Author(s):  
Carlos Augusto Real Martinez ◽  
Rogério Tadeu Palma ◽  
Jaques Waisberg
Keyword(s):  
Case Report ◽  
Histological Study ◽  
Abdominal Mass ◽  
Benign Neoplasm ◽  
Large Mass ◽  
White Female ◽  
Ascending Colon ◽  
Abdominal Ultrasonography ◽  
History Of ◽  
History Of Pain

BACKGROUND: Retroperitoneal lipoma is an extremely rare neoplasm. AIMS: The authors report a case of giant retroperitoneal lipoma in a 32-year-old white female, with a history of pain and an abdominal mass over a 2-year period. Total abdominal ultrasonography and barium enema showed a large mass located in the retroperitoneal space behind the ascending colon. Laparotomy showed a large encapsulated tumor measuring 20 x 13 x 10 cm and weighing 3.400 g. The histological study revealed a benign neoplasm of fatty cells. CONCLUSION: The patient remains well 17 years after surgery, without recurrentce of the disease.

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