Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene

We present the imaging findings of a newly identified lethal arteriopathy associated with a novel mutation in the gene encoding fibulin-4, occurring in a distinct community from southern India. A total of 31 children from a distinct population subgroup who presented with characteristic arterial dilatation and tortuosity were studied. All children except one belonged to unrelated families from an ethno-religious group (Muslim) from the northern coastal belt of southern India. CT angiography was performed in 30 children and contrast MRA in one. Impressive dilatation and elongation of ascending aorta, arch, descending aorta and main pulmonary arteries with characteristic narrowing of aortic isthmus were seen in all patients. Stenosis of arch branches, abdominal visceral branches and pulmonary artery branches was observed in 21 (68 %), 23 (62.5 %) and 20 (65 %) patients respectively. Genetic studies revealed an identical mutation in exon 7 of the FBLN4 gene. On follow-up, 27 of them had died before the age of 3 years and only two children were alive after the age of 4 years. FBLN4-associated vasculopathy is a highly lethal disease characterized by severe aneurysmal dilatation of thoracic aorta, its branches and pulmonary arteries with stenoses at typical locations. - Homozygous mutations in exon 7 of the FBLN4 gene can produce lethal vasculopathy. - Fibulin-4 is a critical determinant in human elastogenesis. - Imaging findings can give a clue to underlying connective tissue disorders

Percutaneous transhepatic techniques for management of biliary anastomotic strictures in living donor liver transplant recipients

Aim: To retrospectively analyze the percutaneous transhepatic techniques and their outcome in the management of biliary strictures in living donor liver transplant (LDLT) recipients. Materials and Methods: We retrieved the hospital records of 400 LDLT recipients between 2007 and 2015 and identified 45 patients with biliary strictures. Among them, 17 patients (37.8%) (Male: female = 13:4; mean age, 36.1 ± 17.5 years) treated by various percutaneous transhepatic biliary techniques alone or in combination with endoscopic retrograde cholangiopancreatography (ERCP) were included in the study. The technical and clinical success of the percutaneous management was analyzed. Results: Anastomotic strictures associated with leak were found in 12/17 patients (70.6%). Ten out of 12 (83.3%) patients associated with leak had more than one duct-duct anastomoses (range, 2–3). The average duration of onset of stricture in patients with biliary leak was 3.97 ± 2.68 months and in patients with only strictures it was 14.03 ± 13.9 months. In 6 patients, endoscopic-guided plastic stents were placed using rendezvous technique, plastic stent was placed from a percutaneous approach in 1 patient, metallic stents were used in 2 patients, cholangioplasty was performed in 1 patient, N-butyl- 2-cyanoacrylate embolization was done in 1 child with biliary-pleural fistula, internal-external drain was placed in 1 patient, and only external drain was placed in 5 patients. Technical success was achieved in 12/17 (70.6%) and clinical success was achieved in 13/17 (76.5%) of the patients. Posttreatment mean time of follow-up was 19.4 ± 13.7 months. Five patients (29.4%) died (two acute rejections, one metabolic acidosis, and two sepsis). Conclusions: Percutaneous biliary techniques are effective treatment options with good outcome in LDLT patients with biliary complications