Incidental finding of an aortic aneurysm in a paediatric patient with tuberous sclerosis - A case report with literature review

• Published in: Proceedings of Singapore Healthcare Vol. 32
• Main Authors: Kong, Kar Yee Catrin, Ting, Chun Yi, Merchant, Khurshid, Lai, Angeline Hwei Meeng, Chowdhury, Sudipta Roy
• Format: Journal Article
• Language: English
• Published: London, England SAGE Publications 06.07.2023; Sage Publications Ltd; SAGE Publishing
• Subjects: Abdomen; Aortic aneurysms; Case reports; Older people; Pediatrics; Tuberous sclerosis; surveillance; tuberous sclerosis; surgical repair; Aortic aneurysm; rupture
• ISSN: 2010-1058; 2059-2329
• DOI: 10.1177/20101058231188867

Background: While common in the elderly population, abdominal aortic aneurysms (AAAs) are rare in the paediatric population and reported to be more common in patients with connective tissue disorders or certain genetic conditions such as tuberous sclerosis complex (TSC). Presenting symptoms of an AAA can be varied, and can range from being completely asymptomatic, to symptoms including a pulsatile abdominal mass, hypertension, back pain and even rupture. Aortic aneurysms in patients with TSC have been reported presenting at varying age groups. Case description: We report a case of TSC associated with an incidental finding of an abdominal aortic aneurysm in a child. Ultrasound of the abdomen revealed a renal aortic abdominal aneurysm. Computed tomographic angiogram and magnetic resonance imaging of the abdomen confirmed this finding with wall thinning over its right lateral aspect. The child underwent surgical repair of her abdominal aortic aneurysm and recovered uneventfully. Discussion: This case highlights the importance of monitoring patients with TS closely for signs and symptoms of aortic aneurysms and to proceed with screening scans for an early diagnosis. If left untreated, AAA carries a high-risk of morbidity and mortality in the event of a rupture.