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

TO STUDY THE ROLE OF LIMITED SEQUENCE MAGNETIC RESONANCE IMAGING IN ASSESSMENT OF CHILDREN WITH HYDROCEPHALUS.

Aim: To evaluate the role of limited sequence MRI (LS MRI) in diagnosing obstructive from nonobstructive hydrocephalus for treatment planning correlating with surgical findings and in follow up cases of shunt treated hydrocephalus to predict the candidate requires revision surgery correlating with final treatment. Materials and Methods: A total of 235 cases were included in the study underwent limited sequence MRI, 121 cases were evaluated for diagnosing obstructive from nonobstructive hydrocephalus out of which 106 cases underwent surgery were correlated with surgical findings and 114 were symptomatic follow up cases evaluated for need of revision surgery. Diagnostic measures such as sensitivity, specificity, PPV, NPV and accuracy were calculated. A p value of &lt;0.05 was considered to be statistically significant. Results: Obstruction was seen in 81 out of the 106 cases who underwent surgery. MRI showed obstruction in 72(88.9%) and no obstruction in 9(11.1%) cases. Out of the 25 cases with no obstruction in surgery, MRI correctly excluded obstruction in 20(80%) cases. MRI misdiagnosed obstruction in 5(20%) cases. No statistically significant difference between the limited sequence MRI and surgery (p value of 0.424 Sensitivity 88.89%, Specificity 80% PPV 93.51%, NPV 68.97% and Accuracy 86.79%). Out of the total 114 follow up cases of hydrocephalus,47 underwent surgery and 67 cases were managed conservatively. MRI criteria predicted surgical candidate in 43(91.5%) and no surgery in 4(8.5%) patients. MRI criteria predicted nonsurgical management in 64 (95.5%) out of the 67 cases and the rest of 3 (4.5%) cases MRI over rated need for surgery. (Sensitivity:91.49% Specificity:95.52% PPV: 93.5% NPV 94.1% Accuracy :93.9%.) Conclusion: LS MRI has good accuracy in detecting an obstruction in paediatric hydrocephalus. In predicting revision surgery for follow-up cases of shunt-treated hydrocephalus, LS MRI has good accuracy.</jats:p

In the workup of patients with obscure gastrointestinal bleed, does 64-slice MDCT have a role?

Purpose: The purpose was to prospectively determine the sensitivity of 64-slice MDCT in detecting and diagnosing the cause of obscure gastrointestinal bleed (OGIB). Materials and Methods: Our study included 50 patients (male 30, female 20) in the age range of 3-82 years (average age: 58.52 years) who were referred to our radiology department as part of their workup for clinically evident gastrointestinal (GI) bleed or as part of workup for anemia (with and without positive fecal occult blood test). All patients underwent conventional upper endoscopy and colonoscopy before undergoing CT scan. Following a noncontrast scan, all patients underwent triple-phase contrast CT scan using a 64-slice CT scan system. The diagnostic performance of 64-slice MDCT was compared to the results of capsule endoscopy, 99m-technetium-labeled red blood cell scintigraphy (99mTc-RBC scintigraphy), digital subtraction angiography, and surgery whenever available. Results: CT scan showed positive findings in 32 of 50 patients. The sensitivity, specificity, positive predictive value, and negative predictive values of MDCT for detection of bleed were 72.2%, 42.8%, 81.2%, and 44.4%, respectively. Capsule endoscopy was done in 15 patients and was positive in 10 patients; it had a sensitivity of 71.4%. Eleven patients had undergone 99mTc-RBC scintigraphy prior to CT scan, and the result was positive in seven patients (sensitivity 70%). Digital subtraction angiography was performed in only eight patients and among them all except one patient showed findings consistent with the lesions detected on MDCT. Conclusion: MDCT is a sensitive and noninvasive tool that allows rapid detection and localization of OGIB. It can be used as the first-line investigation in patients with negative endoscopy and colonoscopy studies. MDCT and capsule endoscopy have complementary roles in the evaluation of OGIB

Pituitary stalk transection syndrome: Comparison of clinico-radiological features in adults and children with review of literature

Hypo-pituitarism results from impaired production of one or more of anterior pituitary trophic hormones. A rare cause of hypo-pituitarism is pituitary stalk transection syndrome. The MRI features of this condition in children and its association with hormonal deficiencies have been reported earlier. Reports on adults with this disorder are scarce, with only one small case series published in the recent literature. We studied the hormonal deficiency pattern and MRI findings of 12 patients with pituitary stalk transection syndrome who presented to our department between 2004 and 2011. Six patients were children and six were adults (≥18 years). This article compares the adult clinico-radiological phenotype of pituitary transection syndrome with the pediatric group of patients with same condition

Hilar cholangiocarcinoma: Cross sectional evaluation of disease spectrum

Although hilar cholangiocarcinoma is relatively rare, it can be diagnosed on imaging by identifying its typical pattern. In most cases, the tumor appears to be centered on the right or left hepatic duct with involvement of the ipsilateral portal vein, atrophy of hepatic lobe on that side, and invasion of adjacent liver parenchyma. Multi-detector computed tomography (MDCT) and magnetic resonance cholangiopancreatography (MRCP) are commonly used imaging modalities to assess the longitudinal and horizontal spread of tumor