Diagnostic efficacy of dynamic contrast-enhanced magnetic resonance perfusion imaging in detecting local tumor recurrence in patients with head and neck malignancies after definitive treatment.

BACKGROUND AND AIM: Accurate interpretation of post-treatment imaging in head and neck malignancies poses a challenge due to treatment sequelae. Magnetic resonance (MR) perfusion helps in this scenario by evaluating the hemodynamic characteristics of lesions. This study aimed to elucidate the diagnostic efficacy of dynamic contrast-enhanced (DCE)-MR perfusion imaging in detecting recurrence in patients after they underwent definitive treatment for head and neck tumors. MATERIALS AND METHODS: Thirty patients who had received definitive curative-intent treatment for histopathology-proven malignant head and neck tumors and in whom recurrent tumor was detected on precontrast MR imaging (MRI) were accrued in the study. Patients underwent DCE-MR perfusion imaging. Time to peak (TTP), relative maximum enhancement (RME), and relative washout (RWO) ratio were calculated by using time-intensity curve (TIC). The diagnostic accuracy was compared with histopathology. RESULTS: A cut-off value of ≥125.3 for RME showed a sensitivity of 76.2% and specificity of 66.7% for differentiating post-radiation changes and recurrence. The optimal cut-off for RWO ratio was ≥-6.24 with a sensitivity of 76.2% and specificity of 55.6%. The optimal cut-off of TTP was ≤45.8 s with a sensitivity of 61.9% and specificity of 77.8%. Diagnostic accuracies of RME, RWO, and TTP were 73.3%, 70%, and 66.7%, respectively. CONCLUSIONS: DCE-MRI had significant diagnostic accuracy in detecting and differentiating recurrences. TIC analysis of high-temporal resolution DCE-MRI can provide information regarding microcirculation of tumors, and hence can be considered as an imaging modality of choice for assessment of early local tumor recurrence in head and neck tumors.

Complications of Percutaneous Radiofrequency Ablation for Hepatocellular Carcinoma.

Radiofrequency ablation (RFA) is a potentially curative treatment option for early Hepatocellular carcinoma. The RFA is considered safe with a relatively low incidence of complications ranging from 2%-7.9%. Though most of the complications are self-limiting, sometimes they can be life-threatening. The occurrence of the particular complication depends on various factors like tumour location and morphology, underlying disease and ablation technique. A detailed understanding of potential complications along with the associated risk factors will help to employ strategies to prevent them, identify them early and manage them when they occur. This article demonstrates various radiofrequency ablation-related complications and discusses the risk factors and technical strategies to minimise them and achieve complete ablation of the tumour.

Role of Diffusion-Weighted Magnetic Resonance Imaging in the Evaluation of Clinically Suspected Cholesteatoma Cases.

To analyze the apparent diffusion coefficient (ADC) values of middle ear and mastoid lesions in Diffusion weighted Magnetic Resonance Imaging (DW-MRI) to arrive at a probable demarcating value to differentiate cholesteatoma from non-cholesteatomatous lesions. Accurate anatomic localization of the lesion was also done using High Resolution Computed Tomography (HRCT) temporal bone. The study cohort consisted of 30 patients who had undergone HRCT, DW-MRI and surgical intervention in clinically suspected cholesteatomatous lesions during the period August 2018 to August 2020.Sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and accuracy values of HRCT and MRI in relation to intraoperative findings and histopathological findings (gold standard) were calculated and compared using the 2-sided McNemar's Chi Square test. Receiver operating characteristic (ROC) curve was used to predict the cut off value of ADC to differentiate between cholesteatoma and non cholesteatomatous lesions. Total patients were 30 out of which 15 were histopathologically proven cholesteatoma. MR DWI showed 100% sensitivity, 80% specificity, and 90% accuracy in diagnosing cholesteatoma compared to HPE. The probable cut off value of ADC in differentiating cholesteatoma from non-cholesteatomatous lesions was found to be < 1.226 × 10-3 mm2/s, statistically using ROC curve. HRCT showed 96.6% accuracy in identifying the location of the lesion. MR-DWI is a useful tool both individually and in combination with HRCT in the diagnosis of cholesteatomas with high accuracy. An ADC cut-off value could also significantly help increase the accuracy of diagnosis.

Magnetic Resonance Imaging in Otosyphilis: A Rare Manifestation of Neurosyphilis.

We report magnetic resonance imaging (MRI) in a case with otosyphilis, which is a rare manifestation of neurosyphilis. A 50-year-old male presented with progressive hearing loss on the left side and recent-onset palsy of the left 7th and 12th cranial nerves. Computed tomography imaging showed destructive bone lesions involving the petrous temporal bone, middle ear, and mastoid region with a pathognomonic pattern of bone destruction depicted in the volume rendering technique images. MRI showed features of destructive bone lesions (gummatous lesion), meningoneuritis, and labyrinthitis. Pathological examination and treponemal antibody absorption test favored the diagnosis. Otosyphilis should be considered as a differential diagnosis in an adult patient with destructive lesions of the petrous temporal bone. To the best of our knowledge, MRI in otosyphilis has not been reported.

Depth of Invasion in Squamous Cell Carcinoma of Buccal Mucosa: Is Magnetic Resonance Imaging a Good Predictor of Pathological Findings?

INTRODUCTION OR BACKGROUND: This prospective analysis of patients with squamous cell carcinoma of the buccal mucosa, aimed to analyze the correlation between depth of invasion (DOI) observed in pre-operative imaging and the post-operative histopathological findings, and to assess the predictive value of magnetic resonance imaging. PATIENTS AND METHODS: All cases of squamous cell carcinoma of buccal mucosa, planned for primary surgery followed by adjuvant treatment, between June 2017 to December 2019 were included in the analysis. All patients were taken up for imaging using 3 Tesla MR imaging system and subsequently had undergone surgery. The imaging parameters and the histopathological data were analyzed statistically. RESULTS: Of the 45 patients analyzed, 86.7% were males. Mean age at presentation was 60.62 years. All had squamous histology, with 62.2% being moderately differentiated. 68.9% were T4, 46.7%, N0 and 31.3%, N3. Six node positive patients showed perinodal invasion on histopathology. The mean DOI observed in MRI was 16.54mm, while that in histopathological evaluation was 20.24mm. DISCUSSION: A significant correlation was observed between imaging and histopathology values in terms of the DOI, with Spearman's Rho correlation coefficient showing 0.693 (p-<0.001). Nodal positivity observed in the imaging and the histopathological findings showed only a moderate correlation of 0.409, with p values of 0.005 (Pearson, Spearman's rho) and 0.007 (Kendall's tau_b). A significant correlation was not observed between nodal involvement and DOI assessed by imaging nor with histopathological assessment. With a cut-off value of 5mm as imaging DOI, the positive predictive value (PPV) for nodal positivity was only 37.14%, while the negative predictive value (NPV) was 95%. The sensitivity was 96.3%, and specificity 30.16%. When the cutoff was raised to 10mm, the values for PPV, NPV, sensitivity and specificity were, 44.07%, 61.29%, 68.42% and 36.54%. CONCLUSION: Despite being a histopathological parameter, accurate or near accurate evaluation of DOI can be achieved using MR imaging. Our study convincingly shows that magnetic resonance imaging can be considered the imaging of choice for the evaluation of depth of invasion of the tumour in squamous cell carcinoma of the buccal mucosa, though it fails to show any predictive value for nodal involvement.

How Safe Are Radiation Doses in Diagnostic Radiology? A Historical Perspective and Review of Current Evidence.

The "no dose is safe" linear no-threshold (LNT) model forms the basis for radiation safety in radiology practice. This model has its origins in observations of germline mutations in fruit flies exposed to X-rays. After World War II, quantitative risk estimates of radiation injury are primarily derived from the atomic bomb survivor Life Span Study. Current understanding of tissue response to radiation has raised doubts about the validity of LNT model at low doses encountered in the practice of diagnostic radiology. This article traces the evolution of basic radiation safety concepts and provides a bird's eye view of the Life Span Study and other studies which throw light on the matter. The arguments for an alternative, threshold, or even hermetic models of dose response are examined. The relevance of these developments to the nuclear power industry is also outlined.

Does Contrast Dose Based in Lean body Weight Allow Lesser Volumes on High BMI Patients for CT Angiography?

OBJECTIVES: The objective was to evaluate whether contrast dose based on lean body weight (LBW) protocol has the potential to reduce contrast volume in patients with high basal metabolic index (BMI) compared to total body weight (TBW)-based protocols. MATERIAL AND METHODS: The Institutional Review Board approval was obtained for this prospective study. Initially, a pilot study with a sample size of 150 patients was conducted to estimate the average fat fraction in our population. Then, CT angiography (CTA) for the thoracic and abdominal aorta was performed using a 256-multidetector computed tomography scanner in 117 patients who were undergoing screening for aortic aneurysm and vascular assessment of prospective transplant donors. The patients were divided into two groups: A TBW group (n = 60) and LBW group (n = 57). Lean body weight (LBW) was estimated from the patient weight, height, and gender using Hume's equation. The TBW group received 1.2 ml/kg contrast dose and the LBW group received 1.6 ml/kg contrast dose to achieve approximately equal iodine dose in both groups. Differences in the degree of aortic enhancement between the estimated LBW and TBW group were evaluated. In higher BMI patients (>25), the mean aortic enhancement (MAEnh) and the contrast volume delivered between the LBW and TBW group were compared. RESULTS: Mean aortic enhancement (MAEnh) 422.45 (±74.5) Hounsfield unit (HU) in the TBW group and 432.67 (±69.4) HU in the LBW group showed no statistical difference (P = 0.439). In population with BMI >25, the contrast delivered in LBW protocol patients was significantly less (P = 0.00) compared to TBW protocol patients, with no significant difference in the MAEnh between the groups (P = 0.479). CONCLUSION: CTA using a LBW protocol helps to significantly reduce the volume of contrast delivered, especially in patients with BMI >25 compared to TBW protocol, without compromising the aortic enhancement.

Anatomical Variations of the Aortic Arch: A Computerized Tomography-Based Study.

Introduction Despite adequate preparation and meticulous pre-operative assessment, variations of the vascular anatomy of the aortic arch may lead to clinical dilemmas. In the present era, with the easy availability of imaging facilities, various anatomical variations can be found out prior to an interventional procedure. However, there are many countries including India where such facilities may still be not widely available. The purpose of this study was to assess the prevalence of these anatomical variants in patients undergoing Computerised Tomography (CT) chest with contrast. Methods This observational study involved patients who underwent CT chest with contrast as part of various clinical indications during a three-year period in a tertiary care centre in South India. Variations of the aortic arch and its branching pattern were studied in 4,000 chest CT images of patients referred to the radiology department.  Results A total of 4,000 patients underwent CT chest with contrast during the study period. Twenty-seven variations were observed in these patients. They included aberrant right subclavian artery in seven patients, bovine arch in one patient, bovine origin of left vertebral artery from arch in one patient, bronchial artery of anomalous origin from arch in one patient, double aortic arch in one patient, and right-sided aortic arch in 16 patients.  Conclusion The variant anatomy of the aortic arch has tremendous clinical significance, especially from the surgical standpoint. Anatomical variants can also cause difficulty during catheterization while performing endovascular interventions. Given the prevalence demonstrated in our study, imaging may be indicated prior to any procedure involving vascular access in order to prevent unwanted complications.

Comparison of Knowledge-based Iterative Model Reconstruction (IMR) with Hybrid Iterative Reconstruction (iDose4) Techniques for Evaluation of Hepatocellular Carcinomas Using Computed Tomography.

RATIONALE AND OBJECTIVES: To compare tumor conspicuity of small hepatocellular carcinomas (HCCs) and image quality on knowledge-based iterative model reconstruction low-dose computed tomography (IMR-LDCT) with hybrid iterative reconstruction standard-dose CT (iDose4-SDCT). METHODS: Thirty-two patients (mean age 61.9 ± 9.7 years; male:female 27:5; mean body mass index 25.6 ± 3.8 kg/m2) with cirrhosis and 40 HCCs in IMR-LDCT group and 33 patients (mean age 60.1 ± 7.4 years; male:female 28:5; body mass index 26.7 ± 3.2 kg/m2) with cirrhosis and 40 HCCs in iDose4-SDCT group were included in this retrospective study. Objective analysis of reconstructed iDose4 and IMR images was done for contrast-to-noise ratio of HCCs (CNRHCC), image noise, signal-to-noise ratio of portal vein (SNRPV), and inferior vena cava (SNRIVC). Subjective analysis of tumor conspicuity and image quality was done by two independent reviewers in a blinded manner. Mean volume CT dose index, dose length product, and effective dose for both groups were compared. RESULTS: The CNRHCC was significantly higher in IMR-LDCT compared to iDose4-SDCT in both arterial phase (AP), p < 0.0001, and delayed phase (DP), p < 0.0001. Image noise was significantly lower in IMR-LDCT compared to iDose4-SDCT in AP, portal venous phase, and DP with p < 0.0001. IMR-LDCT showed significantly higher SNRPV (p < 0.0001) and SNRIVC (p < 0.0001) compared to iDose4-SDCT. On subjective analysis, IMR-LDCT images showed better image quality in AP, portal venous phase, and DP and better tumor conspicuity in AP and DP. IMR-LDCT (21.4 ± 4.6 mSv) achieved 36.9% reduction in the effective dose compared to iDose4-SDCT (33.9 ± 6.2 mSv). CONCLUSION: IMR algorithm provides better image quality and tumor conspicuity with considerable decrease in image noise compared to iDose4 reconstruction technique even on LDCT.

Radiofrequency Ablation Followed by Percutaneous Ethanol Ablation Leading to Long-Term Remission of Hyperparathyroidism.

A 30-year-old male with cerebral palsy and motor impairment presented with right femur fracture. He had gradually worsening mobility and contractures of all extremities for the preceding 5 years. Evaluation showed multiple vertebral and femoral fractures, severe osteoporosis, a large parathyroid adenoma, and parathormone (PTH) exceeding 2500 pg/mL. Because of poor general health and high anesthetic risk, parathyroidectomy was deemed impractical. Ultrasound-guided radiofrequency ablation (RFA) helped achieve 50% size reduction and PTH levels with better control of hypercalcemia. Later, as calcium and PTH remained elevated, percutaneous ethanol ablation was performed with resultant normalization of PTH and substantial symptomatic improvement. Two years later, he still remains normocalcaemic with normal PTH levels. We propose that RFA and percutaneous ethanol ablation be considered as effective short-term options for surgically difficult cases, which could even help achieve long-term remission. Although not previously reported, our case illustrates that both RFA and percutaneous ethanol ablation could be safely performed successively achieving long-term remission.

Role of Multi Detector Computed Tomography (MDCT) in Preoperative Staging of Pancreatic Carcinoma.

INTRODUCTION: Pancreatic carcinoma is one of the leading causes of cancer related death in advanced countries and has shown rising trends in developing countries like India. Increase in the incidence has been linked to risk factors like lifestyle modification associated with increased alcohol consumption and rapid urbanization. Most patients at the time of diagnosis present with an advanced condition. Surgical resection offers the only chance for cure in them and imaging plays a crucial role in the early diagnosis of the condition. AIM: To compare the staging of pancreatic carcinoma by MDCT (Multi Detector Computed Tomography) with surgery in a preoperative setting in a tertiary referral centre in Kerala. MATERIALS AND METHODS: A cross-sectional observational study was performed between November 2014 and October 2016, 25 patients (12 men, 13 women), with a mean age of 54.2 years, were evaluated. MDCT was performed using 16 slice, 64 slice and 256 slice multi detector CT machines. The gold standard for diagnosis was histopathology and operative data. All statistical analysis was done using IBM SPSS version 20.0. Validity parameters like sensitivity, specificity, accuracy and Positive Predictive Value (PPV) / Negative Predictive Value (NPV) were computed for MDCT with respect to surgery. RESULTS: Of the 25 patients who were evaluated for surgery, 15 (60%) cases were classified as resectable tumours, 3 (12%) as borderline resectable and 7 (28%) as unresectable tumours. CT showed a sensitivity of 82.3% with a specificity of 87.5%. However, for assessing vascular invasion, CT showed sensitivity and specificity of 100% and 93.3% respectively. Three (12%) patients in the study who were classified as borderline resectable pancreatic tumours underwent surgery. CONCLUSION: Contrast-enhanced multiphase pancreatic imaging using MDCT plays a pivotal role in diagnosing and assessing resectability and vascular invasion of pancreatic tumours. It is very useful for determining borderline resectable tumours pre-operatively, which aids for better treatment planning.

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.

Magnetic resonance imaging: A predictor of pathological tumor dimensions in carcinoma of anterior two-thirds of tongue - A prospective evaluation.

INTRODUCTION: Preoperative imaging is mandatory for deciding the extent of surgery in tumors of oral tongue. Previous studies have shown the significance of depth of tumor invasion in predicting nodal involvement. AIM: This prospective study aimed to assess the correlation between tumor dimensions in all three planes obtained through preoperative imaging and histopathological findings, as well as the correlation between these and pathological node positivity. MATERIALS AND METHODS: Fifty-nine consecutive patients with nonmetastatic, operable, squamous cell carcinoma of anterior two-thirds of the tongue were included in the study. Preoperative imaging findings were compared with pathological findings and analyzed. RESULTS: Histopathological dimensions were concordant with imaging findings. Anteroposterior, transverse, and craniocaudal (CC) dimensions obtained through imaging showed a significant correlation with corresponding pathological findings (0.730, 0.621, 0.810, respectively; P < 0.001). Among all three, only CC dimension showed a significant correlation with pathological nodal involvement (odds ratio [OR] = 7.875, P = 0.03, relative risk = 0.236). Pathological tumor thickness of >3 mm had a positive predictive value of 54.9% for nodal involvement (OR = 7.875, P = 0.03). CONCLUSION: With widespread availability of state-of-the-art magnetic resonance (MR) scanners, CC dimension needs to be emphasized as the most significant prognostic tumor parameter. Recent evidence, including our study, suggests that MR imaging is concordant with pathological findings, justifying its use in the pretreatment evaluation of oral tongue lesions.

Traumatic hepatic arteriohepatic venous fistula managed with selective coil embolization: a case report.

Hepatic arterioportal fistulae are frequent vascular complications due to neoplasm, trauma and iatrogenic injury. On the other hand, fistulae between the hepatic arteries and hepatic veins (arteriohepatic venous fistula) are rare. We report the case of a 45-year-old male who suffered from a blunt abdominal trauma with abdominal distension. Initial cross-sectional imaging revealed laceration of the right lobe of liver with an arteriovenous fistula and hemoperitoneum. The diagnosis of arteriohepatic venous fistulae was confirmed on digital subtraction angiography (DSA) and treated angiographically with superselective coil embolization. Post-embolization angiogram showed complete occlusion of arteriovenous fistulae. We emphasis on the management part of the fistulae and endovascular treatment.

Congenital intrahepatic portosystemic shunts: Imaging findings and endovascular management.

We present two cases of congenital intrahepatic portosystemic shunts in which the right portal vein directly communicated with the inferior venacava (IVC) in one patient and with the hepatic vein in the other. Multiple hepatic nodules consistent with focal nodular hyperplasia (FNH) were seen in the first patient. The second patient presented with recurrent history of hepatic encephalopathy. Percutaneous transhepatic embolization was performed using coils and Amplatz device following which she completely recovered.

Percutaneous transluminal angioplasty and stenting in the management of chronic mesenteric angina: A single center experience.

INTRODUCTION: The objective of our study was to review the results of percutaneous angioplasty (PTA)/stenting in the treatment of patients who presented with symptoms and angiographic findings of chronic mesenteric ischemia (CMI). MATERIALS AND METHODS: We performed a retrospective analysis of 13 consecutive patients from a single institution who underwent PTA/stenting for the treatment of symptoms suggestive of CMI. RESULTS: All 13 patients in our study were men, and most common presenting symptoms were weight loss and postprandial pain. Atherosclerosis was the most common cause. PTA and stenting was performed in 9 patients and PTA alone was done in 4 patients. Primary technical success rate was 92% with complete resolution of symptoms within 2 weeks in all patients. No statistical difference was noted in primary clinical success rate based on the number of vessels treated or the method of treatment. However, in patients whom SMA was treated had longer duration of symptom-free survival as compared to other vessels. CONCLUSION: PTA and stenting are very effective therapeutic options for patients presenting with CMI symptoms. It should be considered as the first-line of management in such patients.

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.

Role of dual time fluorodeoxyglucose (FDG) positron emission tomography-computed tomography in identifying co-existing inflammatory and malignant disease: Who holds it (FDG) longer?

18-fluorodeoxyglucose positron emission tomography-computed tomography (PET-CT) is an integral part of imaging in the follow-up of head and neck malignancies. Very often distinguishing inflammatory/infective from malignant recurrence cannot be made confidently with standard uptake value (SUV) alone, as inflammatory lesions have shown to have a very high SUV, and in some cases both can co-exist. In such doubtful cases, dual time PET-CT (3-5 h delayed) is of paramount importance in confidently differentiating inflammatory/infective from a malignant cause.

Morel-Lavallée lesion: A closed degloving injury that requires real attention.

Morel-Lavallée lesions are post-traumatic, closed degloving injuries occurring deep to subcutaneous plane due to disruption of capillaries resulting in an effusion containing hemolymph and necrotic fat. Magnetic resonance imaging (MRI) is the modality of choice in the evaluation of Morel-Lavallée lesion. Early diagnosis and management is essential as any delay in diagnosis or missed lesion will lead to the effusion becoming infected or leading to extensive skin necrosis.

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

OBJECTIVES: 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. MATERIAL AND METHODS: 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. RESULTS: 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. CONCLUSIONS: 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. KEY POINTS: • 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.