EJVES Extra
Volume 17, Issue 5 , Pages 45-47, May 2009

An Abdominal Aortic Aneurysm in an 8-Month-Old Girl with Tuberous Sclerosis

Department of Surgery, Seoul National University College of Medicine, 28 Youngon-dong, Chongno-ku, Seoul 110-744, South Korea

Received 27 November 2008; accepted 14 January 2009. published online 27 March 2009.

Article Outline

Abstract 

The association between an abdominal aortic aneurysm (AAA) and tuberous sclerosis (TS) is rare. An 8-month-old girl presented with a seizure, and the clinical evaluation revealed TS. An abdominal evaluation showed a 3-cm infrarenal AAA. A normal diameter of infrarenal aorta for an 8-month-old girl is about 6mm. The patient underwent an open repair with a polytetrafluoroethylene (PTFE) prosthesis. The pathology showed a loss of elastin fibres in the media of the aorta. The graft was patent on computed tomography (CT) angiography, performed 4 months after the operation. However, the patient died of complications related to seizures 5 years after the surgery. The graft remained patent until the time of death.

Keywords: Tuberous sclerosis, Abdominal aortic aneurysm

 

An abdominal aortic aneurysm (AAA) is usually found in the elderly; it is rarely diagnosed in children. Most cases of childhood AAAs are associated with systemic diseases, such as Takayasu's arteritis and Kawasaki disease, and connective tissue disorders, such as Marfan's or Ehlers–Danlos syndrome.1 Tuberous sclerosis (TS) is an autosomal-dominant genetic disease characterised by seizures, mental retardation and facial adenoma sebaceum. Here we report a case of an 8-month-old girl with TS and an AAA.

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Case Report 

An 8-month-old girl was admitted to the hospital with seizures and loss of consciousness. There was neither a significant medical history nor a familial history of TS. On physical examination, there were multiple hypopigmented macules on the extremities and the back, along with adenomata sebacea on the face. Physical examination revealed that the abdomen was normal. The blood pressure was within the normal range. Bilateral femoral pulsations could be easily palpated. The brain magnetic resonance imaging (MRI) showed typical calcified nodules associated with TS. Cardiac echocardiography showed a 6-mm mass in the papillary muscle of the right ventricle suggestive of a rhabdomyoma. Abdominal ultrasound revealed an AAA, and computed tomography (CT) scanning demonstrated a large, infrarenal saccular aneurysm measuring 30.6mm in width and 37.8mm in length (Fig. 1A). The aortic bifurcation was not involved.

  • View full-size image.
  • Figure 1 

    (A) Three-dimensional volume-rendered image demonstrates the infrarenal saccular aneurysm (measurements in millimeters) and (B) histological image of the aortic wall (H&E; ×100).

Laparotomy revealed an aneurysm measuring 3×3.5×3cm. Endo-aneurysmal graft replacement, with a PTFE prosthesis (Hemashield®) of 10mm diameter, was performed. The inferior mesenteric artery (IMA) was ligated, and the graft was sutured in an interrupted manner. Calcification was absent in the aortic wall. Pathological examination revealed the loss of elastin fibres in the media of the aorta (Fig. 1B). The postoperative recovery was uneventful. A CT scan confirmed that the graft was patent for 4 months after the operation (Fig. 2). However, the patient died of complications secondary to uncontrolled seizures 5 years after the operation. There were no further symptoms associated with graft occlusion or recurrence of the aneurysm.

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Discussion 

TS is a genetic disorder with autosomal-dominant inheritance; it is common in children. It affects a variety of organs, including the brain, heart and kidneys. Although previously recognised,2 the association of TS with an aortic aneurysm is rare. In a recent review of 15 TS patients with an aortic aneurysm reported by Jost et al.,2 the aneurysm associated with TS was usually large at presentation and rapidly progressive; overall, nine patients survived after elective repair and six patients died because of aneurysm rupture. Among the six cases of aneurysm rupture, four had ruptured at presentation and two recurrent aneurysms that ruptured 2 years after elective repair of the original aneurysm.2 After the report of Jost et al., two additional cases have been reported in the English literature and both patients have survived after elective aneurysm repair.3, 4 Therefore, it is recommended that an aortic aneurysm, either thoracic, abdominal or both, should routinely be ruled out in patients with TS. If an aortic aneurysm is identified, it should be managed by elective repair rather than by observation because of the high rate of associated complications. Early detection of the aneurysm, soon after the diagnosis of TS, and prompt repair could have prevented the fatal complications in this case.

After graft replacement of the aorta with a prosthesis in children, size discrepancy and subsequent development of aortic stenosis inevitably follows as the child grows. In an 8-month-old girl, the diameter of the infrarenal aorta is about 6mm and grows to 12mm at 15–18 years of age according to the nomogram reported by Munk et al.5 We used a 10-mm prosthesis because we had planned for a second operation, had the patient survived, to provide a larger graft during the adolescent period. Bell et al. reported the short-term results of congenital infrarenal AAA repair with an antigen-reduced allograft, which decreased the risk of allograft degeneration and the graft stenosis associated with growth in a child. However, the long-term safety of this method requires further evaluation.

In adults, anticoagulation or anti-platelet therapy is usually unnecessary after AAA repair, because of the relative large size of the graft. Van Reedt Dortland et al. and Tamisier et al. used anti-platelet therapy after AAA repair with a 10-mm Dacron graft and an 11-mm Gore-Tex® graft in a 5-year-old boy and a 30-month-old girl, respectively.6, 7 In our case, we did not use anticoagulants or anti-platelet therapy and avoided graft thrombosis. The limited experience reported to date makes it difficult to conclude that postoperative anticoagulation or anti-platelet therapy is necessary in children; presently, the decision of whether to use these agents must be made on a case-by-case basis. Anticoagulation or anti-platelet therapy might not be necessary after aortic aneurysm repair in children with TS, since TS is not associated with a coagulopathy and the graft is usually larger than the size of the original aorta.

The pathogenesis of aortic aneurysms associated with TS is unknown; however, abnormality of connective tissue has been suggested as a possible cause.6 Loss of elastin fibres has been noted in aortic aneurysms associated with TS, as in the cases with Marfan's syndrome; our patient had a similar histopathology.7 The occurrence of a new aneurysm, superior or inferior to the graft after aneurysm repair, might be explained by an innate weakness of the aortic wall associated with TS. Renal artery involvement, with fibromuscular dysplasia, causing hypertension has been proposed as an another mechanism associated with aortic dilatation in TS8; however, there was no evidence of reno-vascular hypertension in this case.

The surveillance for aneurismal disease, in TS patients without an aneurysm, should be tailored to the growth rate of the renal lesion, usually 2–3 years before puberty and yearly thereafter.9 In cases that have had an aneurysm repair, follow-up of the patient in the immediate postoperative period is necessary to monitor for procedure-related problems. After that time, however, a follow-up at 1–2-year intervals in prepubertal patients should be considered, because recurrent rupture has been reported in a case 2 years after an elective repair.2

We treated AAA diagnosed in an 8-month-old girl with TS; the short-term outcomes were good. However, the patient died from complications unrelated to the AAA. This patient had been followed up at another hospital for the TS 4 months after surgery, with no further radiological evaluation. Regular surveillance for postoperative AAA is important for such cases.

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References 

  1. Sarkar R, Coran AG, Cilley RE, Lindenauer SM, Stanley JC. Arterial aneurysms in children: clinicopathologic classification. J Vasc Surg. 1991;13:47–56
  2. Jost CJ, Gloviczki P, Edwards WD, Stanson AW, Joyce JW, Pairolero PC. Aortic aneurysms in children and young adults with tuberous sclerosis: report of two cases and review of the literature. J Vasc Surg. 2001;33:639–642
  3. Baker PC, Furnival RA. Tuberous sclerosis presenting with bowel obstruction and an aortic aneurysm. Pediatr Emerg Care. 2000;16:255–257
  4. Kimura Y, Sugimura H, Toda M, Nakamura Y, Shibuya K, Murakami A, et al. A case of 2-year-old boy with tuberous sclerosis complicated with descending aortic aneurysm. Pediatr Int. 2005;47:224–226
  5. Munk A, Darge K, Wiesel M, Troeger J. Diameter of the infrarenal aorta and the iliac arteries in children: ultrasound measurements. Transplantation. 2002;73:631–635
  6. Tamisier D, Goutière F, Sidi D, Vaksmann G, Bruneval P, Vouhé P, et al. Abdominal aortic aneurysm in a child with tuberous sclerosis. Ann Vasc Surg. 1997;11:637–639
  7. van Reedt Dortland RW, Bax NM, Huber J. Aortic aneurysm in a 5-year-old boy with tuberous sclerosis. J Pediatr Surg. 1991;26:1420–1422
  8. Millar AJ, Gilbert RD, Brown RA, et al. Abdominal aortic aneurysms in children. J Pediatr Surg. 1996;31:1624–1628
  9. Ewalt DH, Sheffield E, Sparagana SP, Delgado MR, Roach ES. Renal lesion growth in children with tuberous sclerosis complex. J Urol. 1998;160:141–145

PII: S1533-3167(09)00002-8

doi:10.1016/j.ejvsextra.2009.01.001

Refers to article:

  • An Abdominal Aortic Aneurysm in an 8-Month-Old Girl with Tuberous Sclerosis , 23 February 2009

    S.-B. Moon, W.-Y. Shin, Y.-J. Park, S.-J. Kim
    European Journal of Vascular & Endovascular Surgery May 2009 (Vol. 37, Issue 5, Pages 569-571)

EJVES Extra
Volume 17, Issue 5 , Pages 45-47, May 2009

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