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Journal of Surgical Case Reports Mar 2024We identified a young female patient admitted for suspected renal malignancy. Partial nephrectomy was performed after imaging evaluation and discussion. Postoperative...
We identified a young female patient admitted for suspected renal malignancy. Partial nephrectomy was performed after imaging evaluation and discussion. Postoperative biopsy pathology reported multiple low-grade eosinophilic renal tumors (LOTs) with angiomyolipoma growth. After reviewing the data, we found that LOT was mostly solitary and occurred in middle-aged and elderly patients. This case is unique and we share it to improve the understanding of this disease.
PubMed: 38524677
DOI: 10.1093/jscr/rjae125 -
European Journal of Pediatrics Jun 2024The purpose of this study is to determine the predictive factors of tuberous sclerosis complex (TSC)-associated kidney disease and its progression in children....
UNLABELLED
The purpose of this study is to determine the predictive factors of tuberous sclerosis complex (TSC)-associated kidney disease and its progression in children. Retrospective review of children with TSC in a tertiary children's hospital was performed. Relevant data were extracted, and Cox proportional hazards regression was used to establish predictors of kidney lesions. Logistic regression was conducted to identify factors predicting chronic kidney disease (CKD) and high-risk angiomyolipomas (above 3 cm). Kidney imaging data were available in 145 children with TSC; of these, 79% (114/145) had abnormal findings. The only significant predictive factor for cyst development was being female (HR = 0.503, 95% CI 0.264-0.956). Being female (HR = 0.505, 95% CI 0.272-0.937) and underweight (HR = 0.092, 95% CI 0.011-0.800) both lowers the risk of having angiomyolipomas, but TSC2 mutations (HR = 2.568, 95% CI 1.101-5.989) and being obese (HR = 2.555, 95%CI 1.243-5.255) increases risks. Ten (12%) of 81 children with kidney function tested demonstrate CKD stages II-V, and only angiomyolipomas above 3 cm predict CKD. Additionally, 13/145 (9%) children had high-risk angiomyolipomas, whereby current age (adjusted odds ratio (aOR) 1.015, 95% CI 1.004-1.026) and being overweight/obese (aOR 7.129, 95% CI 1.940-26.202) were significantly associated with angiomyolipomas above 3 cm.
CONCLUSIONS
While gender and genotype are known predictors, this study includes the novel finding of nutritional status as a predictor of TSC-associated kidney disease. This study sheds light on a possible complex interplay of hormonal influences, obesity, and kidney angiomyolipomas growth, and further investigations focusing on the impact of nutritional status on TSC-associated kidney disease are warranted.
WHAT IS KNOWN
• Gender and genotype are well-studied predictive factors in TSC kidney disease.
WHAT IS NEW
• Nutritional status may influence the development and the progression of kidney lesions in children with TSC and should not be overlooked. • Management guidelines of TSC-associated kidney disease can address nutritional aspects.
Topics: Humans; Tuberous Sclerosis; Female; Retrospective Studies; Male; Angiomyolipoma; Kidney Neoplasms; Child; Child, Preschool; Nutritional Status; Adolescent; Infant; Risk Factors; Renal Insufficiency, Chronic; Disease Progression; Proportional Hazards Models; Logistic Models
PubMed: 38483608
DOI: 10.1007/s00431-024-05520-8 -
Frontiers in Medicine 2024Lymphangioleiomyomatosis (LAM) is a rare lung disease predominantly affecting women, and it is characterized by the proliferation of smooth muscle cells and cystic lung...
Lymphangioleiomyomatosis (LAM) is a rare lung disease predominantly affecting women, and it is characterized by the proliferation of smooth muscle cells and cystic lung destruction. LAM diagnosis is challenging due to varied clinical presentations and resemblance to common conditions such as asthma. We present two female cases where LAM was initially misdiagnosed. Case 1 describes a woman treated for asthma-chronic obstruction pulmonary disease overlap syndrome, while also undergoing treatment with vascular endothelial growth factor (VEGF) inhibitor pazopanib for a retroperitoneal leiomyoma, the latter responding well to treatment. Due to progressive dyspnea, pazopanib-induced pneumonitis was suspected. High-resolution computed tomography (HRCT) showed changes compatible with LAM. A revision of biopsies showed that the leiomyoma was in fact a lymphangioleiomyoma, and VEGF-D was increased. Both supported the LAM diagnosis. Treatment with mTORC1 inhibitor sirolimus was initiated. Case 2 describes a woman, who in resemblance with the woman from case 2 was also suspected of asthma and did not respond clinically to treatment. After several years, HRCT was performed and suspicion of LAM was raised. Transbronchial biopsy and later, an increased VEGF-D supported the LAM diagnosis. As in case 1, treatment with sirolimus was initiated. These cases underscore the importance of reevaluating diagnoses when treatments fail to yield expected results. Improved awareness and early detection of LAM can enhance patient outcomes and life quality. Early LAM diagnosis is vital as mTORC1 inhibitors such as sirolimus can prevent further decline in lung function. Notably, the response of case 2 to pazopanib treatment supports suggestions of its potential as a second-line therapy for perivascular epithelioid cell tumors (PEComas), including LAM.
PubMed: 38410750
DOI: 10.3389/fmed.2024.1328471 -
Cureus Jul 2023Wunderlich syndrome (WS) is a rare, potentially life-threatening medical condition characterized by spontaneous renal or perinephric hemorrhage occurring in the absence...
Wunderlich syndrome (WS) is a rare, potentially life-threatening medical condition characterized by spontaneous renal or perinephric hemorrhage occurring in the absence of known trauma. WS usually presents as Lenk's triad: acute flank pain, flank mass sensation, and hypovolemic shock; however, the presentation of this condition can vary in terms of symptom type and duration. We present the case of a 23-year-old previously healthy woman who consulted our emergency department with an unusual subacute form of presentation of WS (eight days of pain) due to an angiomyolipoma. Considering that the patient was clinically stable, a conservative approach with strict follow-up with serial computed tomography scans was taken.
PubMed: 37416087
DOI: 10.7759/cureus.41385 -
Cureus Dec 2023Wunderlich syndrome, a rare manifestation of spontaneous renal hemorrhage often attributed to renal angiomyolipomas, presents a complex clinical scenario demanding...
Wunderlich syndrome, a rare manifestation of spontaneous renal hemorrhage often attributed to renal angiomyolipomas, presents a complex clinical scenario demanding nuanced management. This article delves into the multifaceted dimensions of this syndrome, dissecting its clinical, diagnostic, and therapeutic intricacies. Illustrating this complexity is the case of a 26-year-old female with Wunderlich syndrome and comorbid type 1 diabetes mellitus, revealing challenges at the intersection of these conditions. While initial intervention via laparoscopic drainage and antibiotic therapy yielded symptomatic relief, the subsequent recurrence of a renal abscess prompted a re-evaluation of the treatment strategy, culminating in a second surgical intervention. The intricate interplay between Wunderlich syndrome and diabetes introduces unique challenges, with fluctuations in hemoglobin and recurrent leukocytosis mirroring the underlying complexities of this clinical dyad. This case underscores the indispensability of a multidisciplinary approach, seamlessly integrating medical and surgical modalities, coupled with vigilant postoperative monitoring. Swift identification of complications and adaptability of the treatment plan emerged as pivotal in addressing recurrent manifestations and averting long-term sequelae. The necessity for continuous surveillance and personalized management strategies becomes evident, emphasizing Wunderlich syndrome as a clinical entity requiring bespoke attention. In conclusion, this case serves as an example, highlighting the intricate nature of Wunderlich syndrome, accentuated by the presence of type 1 diabetes mellitus. The initial therapeutic success, followed by a recurrence, underscores the need for ongoing research, paving the way for refined diagnostic and treatment paradigms. The synthesis of clinical complexities in this scenario elucidates the imperative for a comprehensive understanding, guiding future endeavors aimed at optimizing the prognosis of patients affected by this uncommon syndrome.
PubMed: 38098738
DOI: 10.7759/cureus.50481 -
Radiology Case Reports Mar 2024Angiomyolipomas are benign renal hamartomas with - fat, smooth muscle, and abnormal blood vessel (tortuous, dysmorphic) components. The risk of hemorrhage is related to...
Angiomyolipomas are benign renal hamartomas with - fat, smooth muscle, and abnormal blood vessel (tortuous, dysmorphic) components. The risk of hemorrhage is related to size of the tumor, presence of aneurysm, associations with tuberous sclerosis. In this case report we review the case of a 42-year-old woman presenting with acute flank pain and decreased hemoglobin, who was diagnosed with AML with right renal artery pseudo aneurysm on CT. Subsequent coil embolization of feeding vessels and using PVA particles was successfully done. Selective embolization remains a minimally invasive, attractive option, and a nephron sparing approach.
PubMed: 38226046
DOI: 10.1016/j.radcr.2023.11.077 -
World Journal of Clinical Cases May 2024Hepatic epithelioid angiomyolipoma (HEA) has a low incidence and both clinical manifestations and imaging lack specificity. Thus, it is easy to misdiagnose HEA as other...
BACKGROUND
Hepatic epithelioid angiomyolipoma (HEA) has a low incidence and both clinical manifestations and imaging lack specificity. Thus, it is easy to misdiagnose HEA as other tumors of the liver, especially in the presence of liver diseases such as hepatitis cirrhosis. This article reviewed the diagnosis and treatment of a patient with HEA and alcoholic cirrhosis, and analyzed the literature, in order to improve the understanding of this disease.
CASE SUMMARY
A 67-year-old male patient with a history of alcoholic cirrhosis was admitted due to the discovery of a space-occupying lesion in the liver. Based on the patient's history, laboratory examinations, and imaging examinations, a malignant liver tumor was considered and laparoscopic partial hepatectomy was performed. Postoperative pathology showed HEA. During outpatient follow-up, the patient showed no sign of recurrence.
CONCLUSION
HEA is difficult to make a definite diagnosis before surgery. HEA has the potential for malignant degeneration. If conditions permit, surgical treatment is recommended.
PubMed: 38765741
DOI: 10.12998/wjcc.v12.i14.2382 -
Radiology Case Reports Aug 2024Renal angiomyolipoma (AML) is a rare benign tumor of the kidney, often detected incidentally on radiological images as the presence of macroscopic fat characterizes...
Renal angiomyolipoma (AML) is a rare benign tumor of the kidney, often detected incidentally on radiological images as the presence of macroscopic fat characterizes them. In the majority of the cases, they are usually sporadic. Despite their benign nature, venous invasion, a rare occurrence in renal AMLs, poses management challenges. We present a case of bilateral renal AML in a 52-year-old female with a right renal vein and hepatic inferior vena cava invasion.
PubMed: 38800084
DOI: 10.1016/j.radcr.2024.04.006 -
Cureus Jan 2024Renal angiomyolipomas, common benign tumors, can exhibit slow growth in sporadic cases or have aggressive tendencies when linked to genetic conditions like tuberous...
Renal angiomyolipomas, common benign tumors, can exhibit slow growth in sporadic cases or have aggressive tendencies when linked to genetic conditions like tuberous sclerosis. This case report focuses on the exceptionally rare angiomyolipoma with epithelial cysts (AMLEC) variant, particularly challenging to diagnose due to its scarcity. Describing a 41-year-old woman's case, initially suspected to be renal cell carcinoma during an infertility evaluation, subsequent partial nephrectomy revealed a tumor comprising smooth muscle, blood vessels, and fat, with cystic regions featuring cuboidal linings and a layer devoid of abnormal cell activity. Immunohistochemistry confirmed specific markers within different tumor components, highlighting the diagnostic complexities of AMLEC and emphasizing the crucial role of histopathological examinations in accurate characterizations.
PubMed: 38327970
DOI: 10.7759/cureus.51824 -
Radiology Case Reports Jun 2024Tuberous Sclerosis Complex (TSC) is a rare genetic disorder that primarily affects the central nervous system and various body organs. This case series describes the...
Tuberous Sclerosis Complex (TSC) is a rare genetic disorder that primarily affects the central nervous system and various body organs. This case series describes the case history of 2 siblings from the same parents who were diagnosed with TSC. Case 1 is a 13-year-old girl with bilateral renal AML (angiomyolipoma), multiple fat nodules in the liver, and subependymal nodules with tubers revealed in the brain magnetic resonance imaging (MRI). Case 2 is her brother, a 6-year-old boy, who presented with manifestations of subependymal giant cell astrocytoma (SEGA) and renal AML. TSC must be managed with early diagnosis and intervention due to the risk of hamartoma enlargement. These 2 cases found in siblings underline the varied clinical presentations of TSC and the complexities faced by families with TSC. Early diagnosis is important to avoid TSC-related complications because, as time goes by, the disease will impact the patient's quality of life and increase morbidity and mortality. This case series also highlights the advantages of dermatological screening for the early detection of TSC, family screening, the need for multiple imaging modalities and counseling of family members with TSC, as well as the need for ongoing follow-up of this rare disorder.
PubMed: 38596180
DOI: 10.1016/j.radcr.2024.03.002