Giant bilateral angiomyolipomas with spontaneous hemorrhage and inferior vena cava thrombosis in a patient with tuberous sclerosis

Introduction Renal angiomyolipoma is considered a benign mesenchymal tumor composed of fat, smooth muscle, and blood vessels. It represents 1–3% of solid renal tumors. Despite this tumor’s benignity, it can be aggressive with a locoregional extension. Case report A 41-year-old north African caucasian woman consulted with chief complaints of right lower back pain with no hematuria and no urinal sign. Thoracic-abdominopelvic contrast-enhanced computed tomography showed a right inferior polar heterogeneous renal mass complicated with venous thrombus ascending to the right atrium level. The patient underwent radical nephrectomy under extracorporeal circulation and direct supervision of the fatty thrombus at the right atrium level. The postoperative period was uneventful. The final histologic examination was concordant with renal angiomyolipoma. Conclusion Renal angiomyolipoma is the most common benign kidney tumor. Despite its benignity, it can be associated with lethal complications such as hemorrhage, and it can also show signs of local extension mimicking malignant tumors. The cornerstone of the treatment remains surgery.

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“…MRI can also detect fat in these tumors; it can show abnormal tumoral vessels and accurately delineate the local extent [ 13 ].…”

Section: Discussionmentioning

confidence: 99%

A renal angiomyolipoma with a challenging presentation: a case report

et al. 2021

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“…Similarly, there are a few reports of venous thrombosis of the inferior vena cava in patients with TSC who develop renal angiomyolipoma. 12,13 While this patient had a history of angiomyolipoma, there was no evidence of extension into or thrombosis of the inferior vena cava.…”

Section: Discussionmentioning

confidence: 84%

Aortic Thrombus Embolization in A Patient with Tuberous Sclerosis

Wolf

Rhoads

Gomes

et al. 2021

Journal of Pediatric Neurology

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Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder affecting many organ systems. Patients commonly develop a variety of benign tumors as well as neurological disease, including seizures, autism, and cognitive delay. We report here the case of an adolescent patient with TSC and a history of mild COVID-19 who presented with a 1-day history of altered mental status. The patient was found to have ischemic cerebral infarction of the right MCA and ACA territories. Initial angiography showed an occlusion of the right internal carotid artery without a demonstrable etiology, with follow-up echocardiography and angiography revealing a large aortic thrombus. The patient was not a candidate for thrombus removal due to her cerebral infarct and received medical anticoagulation. Thrombosis progressed to involve the left ICA, with left cerebral infarction and subsequent death. Aortic thrombus embolization as a cause of cerebrovascular accident (CVA) is a novel finding in the setting of TSC and should be considered for pediatric patients with CVA of unknown etiology. It is unclear whether this was related to the prior COVID-19 infection.

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Diagnostic features of tuberous sclerosis complex: case report and literature review

Alshoabi¹,

Hamid²,

Alhazmi³

et al. 2022

Quant Imaging Med Surg

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Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic syndrome that is caused by mutations in the tumour suppressor genes TSC1 or TSC2 which causes multiorgan growths. TSC presents at any age as a wide range of clinical and phenotypic manifestations with varying severity. The main goal of this article was to state two cases of TSC and review the most commonly reported major and minor diagnostic clinical features and the most common features that led to an investigation of possible TSC diagnosis. Herein, we report two cases of TSC, which both presented with seizures during the first 6 months of life. Case 1 presented with multiple types of seizures from 6 months of age and was diagnosed by multiple calcified subependymal nodules (SENs) detected by computed tomography and magnetic resonance imaging (MRI). Case 2 presented with seizures from 3 months of age and was diagnosed prenatally when a tumour was seen in her heart during antenatal ultrasonography. In conclusion, the literature review revealed that neurological manifestations (mainly seizures) were the main feature that led to investigation and diagnosis of TSC followed by abdominal manifestations (mainly renal features) and antenatal follow-up imaging.Other manifestations in skin, chest, eyes, teeth and heart rarely led to TSC diagnosis. In some cases, TSC was incidentally discovered by medical imaging. The cortical tubers, SENs, and subependymal giant cell astrocytomas brain lesions were the most commonly reported major features. Skin features including angiofibromas, ungual fibromas and shagreen patch were the second most common major features reported in the literature. However, skin manifestations were not a common led to investigation and diagnosis of TSC. Renal features, mainly angiomyolipomas (AMLs), were the third most common major feature reported. Medical imaging plays an essential role in diagnosis of TSC, and clinical features are important clues that lead to investigation for the disease.

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Giant bilateral angiomyolipomas with spontaneous hemorrhage and inferior vena cava thrombosis in a patient with tuberous sclerosis

Cited by 4 publications

References 8 publications

A renal angiomyolipoma with a challenging presentation: a case report

A renal angiomyolipoma with a challenging presentation: a case report

Aortic Thrombus Embolization in A Patient with Tuberous Sclerosis

Diagnostic features of tuberous sclerosis complex: case report and literature review

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