New clinical insights in Bourneville disease.

Background. Renal angiomyolipomas are rarely associated with tuberous sclerosis. Occasionally, their spontaneous rupture can be life-threatening and require immediate medical care. Objective. To analyze the cases of renal angiomyolipoma with cutaneus phenotype treated in our center. Design, Settings and Participants. A retrospective evaluation was made of 12 patients with renal angiomyolipomas with cutaneus phenotype treated in our center, between June 2000 and June 2010. Measurements. We assessed the size of the tumors and the biological constants at the admission, the treatment chosen in each case and their evolution during the therapy. Results and limitations. Average age at diagnosis: 34.2 year, 4 men and 8 women. Mean follow-up: 71.8 months. Initial symptoms, tumor size, treatment and evolution of these patients were evaluated. 8 patients (66.6%) were symptomatic at admission, complaining gross hematuria, mild abdominal pain and meteorism; 2 emergency admittance for acute abdominal pain with muscular defense. On physical examination, all patients presented bulky plaquelike lesions consistent with sebaceous adenoma, mainly on the face, forehead and upper extremities. Laboratory results at admissions displayed a mean Hb level of 7.2 g/dL and a mean creatinine level of 1.8 mg/dL (0.6-3.1 mg/dL). Contrast enhanced abdominal CT was performed at all patients, who revealed bilalteral AML in 8 cases (66.6%), Wunderlich's syndrome in 3 cases (25%). Mean tumor size was 8.3 cm (2.4-21.4 cm). None of the patients with renal lesions <3.4 cm were symptomatic at admittance. All the patients had severe mental retardation and presented on the CT scan calcified densities in cerebral ventricles. The treatment consisted in conservatory approach in 6 cases (50%), total unilateral nephrectomy in 2 cases, partial nephrectomy in 2 cases and selective arterial embolization in 2 cases. Conclusions. Because of the severe mental retard, the history was difficult to obtain and the treatment could be delayed. The correlation with the paraclinic parameters is usually the most important in these cases. We suggest a regular monitoring in cases with small and asymptomatic lesions. Both surgery and SAE offer good results when performed on an elective basis, but the surgical approach is to first line of treatment in cases with Wunderlich's syndrome. Multiplicity, bilaterality and an increased size of the lesions appear to be high risk factors for renal rupture. [ABSTRACT FROM AUTHOR]