Abstract
A 3-year-old boy with a history of tuberous sclerosis (TS) presented with a 7-week history of anorexia, weight loss and lethargy. Examination revealed abdominal distension and lymphadenopathy. Chest and abdominal radiographs suggested thoraco-abdominal mass, and tumour was suspected. Computerized tomography revealed a 10 × 8 cm thoraco-abdominal aneurysm (Panel A: saggital; Panel B: coronal; Panel C: 3-dimensional reconstruction). Given the large size of the aneurysm, surgical repair was undertaken as the risk of rupture was likely to be high. 1 The child was placed on femoral-femoral cardiopulmonary bypass and the aneurysm was replaced with a 10 mm interposition Dacron® graft (Panel D: [1] normal aorta; [2] aneurysm sac; [3] graft). The patient made a good postoperative recovery, was extubated on day 3 and discharged on day 13. Histological analysis confirmed a focally thinned and disrupted media. He remains well 3 years after the surgery.
Tuberous sclerosis, or Bourneville’s disease, is a rare genetic disorder associated with multi-system benign tumours, seizures and developmental delay. It is due to mutations in either the TSC1 or TSC2 genes, which encode suppressors of cell proliferation and differentiation which also act as oncogenes. 2 Aneurysm development is not typical of the TS phenotype, but has been previously reported.3,4 Vascular smooth muscle cell over-proliferation leading to shortened telomeres, increased oxidative stress, and apoptosis is a key event in aneurysmogenesis. 5 These similarities in increased cell turnover may provide a mechanistic explanation for aneurysm development in TS. In addition to the 80% of TS patients with renal neoplasms, a further 30% have multiple renal cysts; 2 an increased incidence of renal cystic disease has also been reported in patients with aortic aneurysms. 6
Aneurysms are rare in patients with TS but pose significant risk. 3 If an aneurysm is suspected in these patients, diagnostic imaging followed by an urgent opinion from a vascular team with experience in paediatrics should be sought.
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Footnotes
Acknowledgements
Consent for the publication of patient images was obtained from the parents of the patient. There has been no previous publication or dual submission. The case was presented at the Charing Cross Vascular Symposium, 2009, in London, UK.
Conflict of interest
The authors declare no conflicts of interest in preparing this article.
Funding
No specific funding was received in relation to this work. MB, KB and KG are in receipt of British Heart Foundation (BHF) funding. SR is in receipt of National Institute for Health Research (NIHR) funding.