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.

Congenital Lymphatic Malformation and Aortic Aneurysm in a Patient with TSC2 Mutation

“…TSC-associated aneurysms have an incidence about two times higher in TSC (0.74%) compared with the general population (0.35%). [20][21][22][23][24][25] The cerebral arteries, followed by the aorta, are the most common involved vessels. The youngest reported TSC case so far was an infant who died of aortic aneurysm rupture at the age of 4.5 months.…”