Birt-Hogg-Dubé syndrome in apparent primary spontaneous pneumothorax patients; results and recommendations for clinical practice.

BACKGROUND: Birt-Hogg-Dubé syndrome (BHD) is an inherited disease caused by pathogenic variants in the FLCN gene. One of the characteristics is the increased risk for spontaneous pneumothorax, likely due to the presence of pulmonary cysts mainly distributed under the carina. Due to variable expression and lack of awareness, BHD is likely to be underdiagnosed. We aimed to examine the prevalence of BHD in patients presenting with an apparent primary spontaneous pneumothorax and to evaluate the contribution of chest CT in establishing the diagnosis. METHODS: Patients who presented with apparent primary spontaneous pneumothorax between 2004 and 2017 in a large Dutch teaching hospital were enrolled in this quantitative cross-sectional study. A questionnaire was sent to eligible patients. Patients who completed the questionnaire and consented to further participation were invited to visit the hospital for genetic testing and low dose, volumetric chest CT. RESULTS: Genetic testing was performed in 88 patients with apparent primary spontaneous pneumothorax. Three patients were found to have a pathogenic variant in the FLCN gene (3.4%). No variants of unknown significance were detected. Pulmonary cysts were detected in 14 out of 83 participants with an available chest CT, six had more than one cyst. All three patients with BHD had multiple pulmonary cysts. CONCLUSIONS: Based on previous literature and the present study, we believe that performing a chest CT in every patient presenting with primary spontaneous pneumothorax is justified. Subsequent genetic testing of the FLCN gene should be considered when multiple pulmonary cysts are present. TRIAL REGISTRATION: The study was registered at clinicaltrials.gov with reference NCT02916992. Three out of 88 patients with an apparent primary spontaneous pneumothorax were diagnosed with Birt-Hogg-Dubé syndrome in this study and all three had multiple pulmonary cysts. We believe that performing a chest CT in every patient with an apparent primary spontaneous pneumothorax is justified to identify underlying diseases.

Transcatheter CT hepatic arteriography-guided percutaneous ablation to treat ablation site recurrences of colorectal liver metastases: the incomplete ring sign.

Transcatheter computed tomography (CT) arterial portography-guided percutaneous liver tumor ablation has been proved to be feasible and accurate in treating liver metastases from colorectal origin that are obscure on ultrasound and unenhanced CT. However, distinguishing local recurrence from scars after ablation can still be difficult. This report describes nine patients with recurrences after ablation in whom transcatheter CT hepatic arteriography allowed differentiation of recurring and residual tumor tissue (incomplete ring enhancing lesion) from tumor-free nonenhancing scars. Using CT hepatic arteriography, it is possible to plan and guide percutaneous retreatment and confirm technical success without performing oversized repeat ablations or jeopardizing patients renal function.

[A splenic arteriovenous fistula]. / Een arterioveneuze fistel van de miltvaten.

BACKGROUND: Splenic arteriovenous fistula is a rare entity which can present as portal hypertension and related symptoms. CASE DESCRIPTION: A 60-year-old female attended the emergency department with haematemesis. She had microcytic anaemia and was admitted to the Gastroenterology and Hepatology Department. Gastroduodenoscopy revealed three grade II-III varices in the distal oesophagus. The ultrasound image was suggestive of liver cirrhosis and showed signs of portal hypertension such as ascites, splenomegaly and dilated vessels near the splenic hilum. CT angiography showed an enlarged splenic vein in the arterial phase suggestive of arteriovenous fistula. This was confirmed by selective angiography of the splenic artery. The splenic arteriovenous fistula was treated with percutaneous transarterial embolization. CONCLUSION: Patients with an arteriovenous fistula in the spleen are generally treated by splenectomy. However, in our patient embolization treatment was effective.

Compromised visceral circulation does not affect the outcome of colorectal surgery.

PURPOSE: Anastomotic leakage is a serious complication after colorectal surgery, and many risk factors for this problem have so far been identified. The aim of this study was to assess the association between visceral arterial occlusive disease and anastomotic leakage. METHODS: The preoperative abdominal computed tomography scans from all consecutive patients who underwent colorectal surgery with anastomosis in 2010 were retrospectively analyzed. RESULTS: A total of 242 patients were included, with a median age of 65 years (interquartile range 55-74). Anastomotic leakage occurred in 14 % of cases (n = 34). The mortality rate was 3 % (n = 8). There was no association between atherosclerosis of the visceral or iliac arteries and anastomotic leakage. There was also no association between right-sided or left-sided resections and total occlusion of the superior or inferior mesenteric artery, respectively. CONCLUSION: Asymptomatic visceral artery occlusive disease is not a risk factor for anastomotic leakage after colorectal surgery, and additional radiological imaging or percutaneous transluminal angioplasty for occluded visceral vessels is not indicated prior to colorectal surgery.

[Periaortitis following endovascular aortic repair]. / Periaortitis na endovasculaire aortareparatie.

BACKGROUND: Infection is the most obvious cause of fever following implantation of an endovascular prosthesis; however, fever and inflammation around the arterial wall can also be caused by a sterile inflammatory reaction: periaortitis. CASE STUDY: An 81-year-old man was referred because of fever and back pain. He had undergone an endovascular aortic repair (EVAR) 1 year earlier; an endovascular prosthesis had been placed during this procedure, to repair an abdominal aortic aneurysm. A positive emission tomography (PET)-CT scan revealed uptake of 18F-fluorodeoxyglucose around the endovascular prosthesis, consistent with infection; however, intensive microbiological investigation, including biopsy from the site of the endovascular prosthesis, revealed no micro-organisms. Empirical administration of antibiotics had no effect. Decreased renal function occurred approximately 4 weeks later, and a CT scan revealed spread of the inflammatory process accompanied by hydronephrosis, consistent with periaortitis. Following treatment with glucocorticoids, renal function returned to normal and the symptoms disappeared. CONCLUSION: Periaortitis is a rare, late complication of an EVAR. Clinical presentation can closely resemble an infection, while distinguishing infection from (sterile) periaortitis is important for the choice of treatment.