Giant renal angiomyolipoma unmasks underlying lymphangioleiomyomatosis: a case report and literature review

TL;DR

A case report shows how a large kidney tumor led to the diagnosis of a rare lung disease in a young woman.

Contribution

This case highlights the importance of considering lymphangioleiomyomatosis in young women with renal angiomyolipoma.

Findings

A 30-year-old woman with a large renal AML was found to have LAM based on imaging and genetic testing.

The case emphasizes the need for multidisciplinary management in complex clinical scenarios involving AML and LAM.

Histopathology and TSC2 mutation confirmed the diagnosis of sporadic LAM.

Abstract

Lymphangioleiomyomatosis (LAM) is an uncommon systemic disease that primarily affects women during their reproductive years and is often linked with renal angiomyolipoma (AML). In this report, we describe a case involving a 30-year-old female patient who presented with a large AML in her right kidney. Imaging revealed diffuse pulmonary cysts, raising clinical suspicion of LAM. The procedure was initially planned as a minimally invasive partial nephrectomy performed with robotic assistance but was converted to open radical nephrectomy due to excessive intraoperative bleeding. Histopathological analysis confirmed epithelioid AML, and genetic testing revealed a somatic TSC2 mutation, further supporting the diagnosis of sporadic LAM. This case highlights the need to consider LAM in young women with renal AML and emphasizes the value of multidisciplinary management in addressing such complex clinical scenarios.

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