Year: 2026
Type: article
Study design: Case Report
Abstract: Pediatric abdominal aortic aneurysms are exceedingly rare, particularly in infants, and pose unique diagnostic and surgical challenges. We present a case of an infant diagnosed antenatally with intracardiac rhabdomyomas who later presented with infantile spasms. Neuroimaging and genetic testing confirmed tuberous sclerosis complex with a pathogenic de novo TSC2 mutation. Tuberous sclerosis complex is associated with dysregulation of the mammalian target of rapamycin (mTOR) signaling pathway, leading to abnormal vascular smooth muscle proliferation, structural vessel wall weakness, and predisposition to aneurysm formation. The increased cellular proliferation and altered vascular biology may also contribute to a prothrombotic milieu, particularly in the postoperative setting following vascular reconstruction. Systemic evaluation of the patient revealed a large fusiform infrarenal abdominal aortic aneurysm, following which the patient underwent elective open aneurysm repair using an 8-mm expanded polytetrafluoroethylene graft. The patient developed early postoperative graft thrombosis, necessitating emergency graft revision. Following re-exploration, satisfactory distal perfusion was achieved, and the postoperative recovery was uneventful. This case highlights the importance of routine vascular screening in patients with tuberous sclerosis complex, underscores the underlying pathophysiology of vascular involvement, and outlines the surgical challenges associated with managing abdominal aortic aneurysms in infancy.
Source: Cureus
Language: English
Subfield: Pulmonary and Respiratory Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W7140192215