Radiological evidence of lymphangioleiomyomatosis in female and male patients with tuberous sclerosis complex.

AIM: To determine the gender-specific prevalence of pulmonary cysts typical for lymphangioleiomyomatosis (LAM) in adult patients with known tuberous sclerosis complex (TSC). MATERIALS AND METHODS: A retrospective, cross-sectional study in a cohort of 206 adult TSC patients was performed. Institutional review board approval was obtained, and patient informed consent was waived. Patients had routinely undergone abdominal CT scanning between 1996 and 2006. All 186 patients (mean age 38 years; range 19-72 years; 91 (49%) male patients) in whom at least the lung bases were depicted on computed tomography (CT) were included. Images were reviewed for the presence of pulmonary thin-walled cysts. Descriptive statistics, two sample t-test to compare means, and χ(2)-test to compare proportions were applied. RESULTS: CT demonstrated pulmonary thin-walled cysts in the lung bases in 52 (28%) of 186 patients. Size varied from 2mm in diameter to more than 2 cm. Pulmonary cysts were detected in 40 (42%) of 95 female patients and in 12 (13%) of 91 male patients (p<0.001). In general, cysts were larger and more numerous in women than in men. Only minimal cystic changes were found in four women and two men, moderate cystic changes were seen in three women and seven men, but considerable cystic changes were seen almost exclusively in women (33 women versus three men). CONCLUSION: CT demonstrated thin-walled pulmonary cysts in the lung bases in 28% of 186 included patients with tuberous sclerosis complex. Female patients were more affected than male patients.

Prevalence of subependymal giant cell tumors in patients with tuberous sclerosis and a review of the literature.

BACKGROUND AND PURPOSE: To investigate the prevalence of subependymal giant cell ependymomas (SEGA) in patients with tuberous sclerosis complex (TSC). METHODS: We performed a retrospective cross-sectional study in a cohort of 285 patients with known TSC. Institutional review board approval was obtained. We included all 214 TSC-patients who had received a contrast-enhanced computed tomography (CT) scan of the brain. The most recent scan was evaluated for SEGA and presence of hydrocephalus. Additionally, a literature search was performed, and pooled estimates of SEGA prevalence in TSC were calculated. We used descriptive statistics, two sample t-test, chi-squared-test, and meta-analysis as appropriate. RESULTS: Computed tomography showed radiological evidence of SEGA in 43 of the 214 TSC-patients (20%); 23 of 105 men (22%) and 20 of 109 women (18%; P = .52). Average maximum tumor size was 11.4 mm (range, 4-29 mm). Patients with SEGA (mean, 31 years; range, 16-58 years) were on average younger than patients without SEGA (mean, 37 years; range, 10-72 years; P = 0.007). No association between tumor size and patient age was detected. Nine patients had bilateral SEGA. Hydrocephalus was present in six of the 43 patients (14%). Meta-analysis of reported prevalence and our current study showed that studies using radiological evidence to diagnose SEGA gave a higher pooled estimate of the prevalence of SEGA in TSC (0.16; 95% CI: 0.12, 0.21) than studies using mainly histopathological evidence of SEGA (0.09; 95% CI: 0.07, 0.12). CONCLUSIONS: In our cohort, CT demonstrated evidence of SEGA in 20% of TSC-patients. Prevalence of SEGA in TSC is higher in studies using radiological evidence to diagnose SEGA than in studies using histopathological evidence.

Endovascular venous stenting in May-Thurner syndrome.

BACKGROUND: Chronic pulsatile compression of the left common iliac vein between the crossing right common iliac artery and the lowest lumbar vertebral body may induce focal intimal proliferation of the vein (May-Thurner syndrome), resulting in impaired venous return and left iliofemoral thrombosis. Corrective surgical treatment requires extensive dissection. In this report, we describe our experience with endovascular venous stenting in May-Thurner syndrome. METHODS: Six patients with symptomatic May-Thurner syndrome were treated with percutaneous transluminal angioplasty and implantation of self-expanding stents. RESULTS Postprocedure phlebography revealed patent iliofemoral veins with unimpeded venous outflow and disappearance of collaterals in all patients. No procedure-related complications occurred. At follow-up (median, 12 months), 5 of 6 patients were free of symptoms. In one patient lower extremity edema was aggravated despite a patent stented segment of the left iliac vein. The patient continues to wear support stockings to compensate for continuing venous insufficiency. Color coded duplex scanning revealed patency at regular intervals in 5 patients. In one patient, occlusion of the stented venous segment with return of symptoms was detected at one month. Patency could not be restored despite catheter-directed thrombolytic therapy. After angioplasty, however, adequate collateral circulation was restored and symptoms resolved completely. CONCLUSIONS: Endovascular venous stenting in May-Thurner syndrome is technically feasible, and leads to reduction of symptoms in the majority of patients with high patency rates in the medium-term. This approach may prove to be a percutaneous alternative to surgical treatment.