NDT Plus Advance Access published online on September 18, 2008
NDT Plus, doi:10.1093/ndtplus/sfn151
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Intrarenal aneurysms in the tuberous sclerosis complex
1 Division of Nephrology
2 Division of Radiology, Cliniques Universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium
Correspondence: Nada Kanaan, Division of Nephrology, Cliniques Universitaires Saint-Luc, Université catholique de Louvain, Avenue Hippocrate, 10, B-1200 Brussels, Belgium. Tel: +32-2-7641859; Fax: +32-2-7642836; E-mail: nada.kanaan{at}uclouvain.be
Key Words: arteriography • embolization • tuberous sclerosis
Received for publication August 20, 2008. Accepted for publication August 21, 2008.
The tuberous sclerosis complex (TSC, OMIM 191100 [OMIM] ) is a rare autosomal dominant syndrome of high penetrance characterized by hamartoma in multiple organs, namely brain, kidneys, heart, skin, eyes and lungs [1]. The classic clinical triad includes seizures, mental retardation and cutaneous adenoma sebacea. Besides common vascular abnormalities observed in angiomyolipoma, TSC can be associated with aneurysms of large vessels like the aorta and cerebral and pulmonary arteries [2].
We report on a 33-year-old TSC patient presenting with spontaneous haemorrhage from ruptured aneurysms located on interlobar branches of the right renal artery. The patient's TSC phenotype was severe, with epilepsy, mental retardation and autism, bilateral kidney angiomyolipoma and lung lymphangioleiomyomatosis. Clinical examination at admission revealed fever (T, 38.2°C) and tenderness on palpation of the right loin area. Blood pressure was 100/70 mmHg. Blood tests showed normal renal function, anaemia (Hb, 8.6 g/dl) and increased C-reactive protein serum level (49.4 mg/dl). Abdominal tomodensitometry demonstrated a recent haemorrhage in the right kidney parenchyma (Figure 1A) surrounding a large aneurysm (Figure 1A, asterisk), with no sign of persistent bleeding. Right renal selective arteriography confirmed the presence of a large saccular aneurysm (35 mm of diameter) with a tiny neck (Figure 1B, asterisk) and disclosed additional aneurysms along a dysplastic and tortuous interlobar artery (Figure 1B, arrowheads). Embolization of the arterial feeders was successfully performed with coils and/or micro-coils.
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Aneurysms in TSC probably result from increased vascular fragility secondary to mucopolysaccharide accumulation and fragmentation of the elastic fibres in arterial walls. Their progression is usually subclinical, and diagnosis is most often made following rupture. Therefore, screening in TSC patients should include periodic abdominal ultrasonography. Tomodensitometry and MRI represent complementary imaging techniques for long-term follow-up and pre-operative evaluation. Elective embolization or surgery should be discussed considering the high risk of life-threatening rupture [3].
Conflict of interest statement. None declared.
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[Free Full Text] - Calcagni G, Gesualdo F, Tamisier D, et al. Arterial aneurysms and tuberous sclerosis: a classic but little known association. Pediatr Radiol (2008) 38:795–797.[CrossRef][Web of Science][Medline]
- Williams JM, Racadio JM, Johnson ND, et al. Embolization of renal angiomyolipomata in patients with tuberous sclerosis complex. Am J Kidney Dis (2006) 47:95–102.[Web of Science][Medline]
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