Duodenal angiomyolipoma with multiple systemic vascular malformations and aneurysms: A case report and literature review

Abstract

Angiomyolipomas (AMLs) are barely benign mesenchymal tumors that usually occur in the kidneys and may be associated with tuberous sclerosis complex (TSC). Extrarenal AMLs are markedly rare and infrequently observed in the duodenum. In the present case report, a 22-year-old female patient with duodenal AMLs presenting multiple systemic vascular malformations and aneurysms is described. The patient had a medical history of aneurysm rupture of the right subclavian artery and no other manifestation of TSC. Surgical intervention was performed. Following complete tumor resection, the patient declined to be treated further for vascular lesions. Pathological and immunohistochemical examination confirmed the diagnosis of duodenal AMLs. No tumor recurrence or progression of the vascular lesions was observed within 24 months of follow-up. This case report demonstrates the scarcity of duodenal AMLs with multiple systemic vascular malformations and aneurysms, which may be associated with novel gene mutations or TSC; however, further verification by gene sequencing is required.

Keywords: aneurysm; angiomyolipoma; duodenum; tuberous sclerosis; vascular malformation.

Figure 1.

Esophagogastroduodenoscopy imaging and abdominal CT scan results. (A) Upper gastrointestinal endoscopy revealed multiple duodenal mucosa polypoid masses (black arrow) in the bowel wall of the descending duodenum. (B) A fat-density lesion, sized 6.5×3.3 cm and (C) a banded calcification in the center of the second part of the duodenum (white arrow) were observed on sequential axial CT imaging of the upper abdomen. CT, computed tomography; R, right.

Figure 2.

Pathological examination of the polypoid submucosal masses in the descending duodenum. (A) Histopathological examination revealed well-circumscribed lesions with overlying duodenal mucosa (H&E staining; magnification, ×40). Mature adipose tissue with thick- or thin-walled blood vessels and proliferative spindle-shaped smooth muscle fibers [H&E staining; magnification, (B) ×100 and, (C) ×200]. Immunohistochemical examination demonstrated positivity of (D) α-smooth muscle actin (E), human melanoma black-45 and (F) the hematopoietic progenitor cell antigen cluster of differentiation 34 (magnification, ×200). H&E, hematoxylin and eosin.

Figure 3.

Digital subtraction angiography revealed (A) stenosis and aneurysmal dilatation (white arrow) of the initial segment of the superior mesenteric artery, (B) evident dilatation and tortuosity (white arrow) of the inferior mesenteric artery, and (C) marked tortuosity and alterations (white arrow) of the right intercostal artery.

Figure 4.

CTA and three-dimensional analyses demonstrated the existence of multiple systemic vascular malformations and aneurysms. (A) Postoperative CTA revealed aneurysmal dilatation (white arrow) of the SMA and (B) severe tortuosity and alterations of the BITA (white arrow) in axial view. (C and D) Volume rendering and maximum intensity projection (E and F) CT images demonstrating the absence of the celiac trunk (red arrow), a severely narrow and tortuous initial segment of the SMA presenting aneurysmal dilatation (thin arrow), marked dilatation and tortuosity of the inferior mesenteric artery (middle arrow) and remarkable tortuosity and alterations of the right intercostal artery and the BITA (thick arrow). BITA, bilateral internal thoracic artery; CTA, computed tomography angiography; SMA, superior mesenteric artery; P, posterior; R, right.