The tuberous sclerosis complex (TSC, OMIM 191100) 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 (Figure1A)1A) surrounding a large aneurysm (Figure (Figure1A,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 (Figure1B,1B, asterisk) and disclosed additional aneurysms along a dysplastic and tortuous interlobar artery (Figure (Figure1B,1B, arrowheads). Embolization of the arterial feeders was successfully performed with coils and/or micro-coils. Fig. 1 (A) Abdominal tomodensitometry performed after intravenous injection of radiocontrast agent (arterial phase) showing a large aneurysm (asterisk) in the right kidney. (B) Right renal selective arteriography confirming the presence of a saccular aneurysm ... 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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