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Familial hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome resulting from defective cytotoxicity. A previously healthy 3-month-old female presented with fever, irritability, abdominal distention, and tachypnea. She ultimately met all eight HLH-2004 diagnostic criteria, accompanied by elevated CXCL9. Initial empiric anti-inflammatory treatment included anakinra and IVIg, which stabilized ferritin and cytopenias. She had molecular and genetic confirmation of perforin deficiency and was started on dexamethasone and etoposide per HLH-94. She clinically improved, though CXCL9 and sIL-2Ra remained elevated. She was readmitted at week 8 for relapsed HLH without clear trigger and HLH-94 induction therapy was reinitiated. Her systemic HLH symptoms failed to respond and she soon developed symptomatic CNS HLH. She was incidentally found to have multifocal lung and kidney nodules, which were sterile and consisted largely of histiocytes and activated, oligoclonal CD8 T cells. The patient had a laboratory response to salvage therapy with alemtuzumab and emapalumab, but progressive neurologic decline led to withdrawal of care. This report highlights HLH foci manifest as pulmonary/renal nodules, demonstrates the utility of monitoring an array of HLH biomarkers, and suggests possible benefit of earlier salvage therapy.

Background Orbital blowout fracture reconstruction often requires an implant, which must be shaped at the time of surgical intervention. This process is time-consuming and requires multiple placement trials, possibly risking complications. Three-dimensional printing technology has enabled health care facilities to generate custom anatomical models to which implants can be molded to precisely match orbital anatomy. The authors present their early experience with these models and their use in optimizing orbital fracture fixation. Methods Maxillofacial computed tomographic scans from patients with orbital floor or wall fractures were prospectively obtained and digitally reconstructed. Both injured-side and mirrored unaffected-side models were produced in-house by stereolithography printing technique. Models were used as templates for molding titanium reconstruction plates, and plates were implanted to reconstruct the patients' orbital walls. Results Nine patients (mean age, 15.5 years) were included. Enophthalmos was present in seven patients preoperatively and resolved in six patients with surgery. All patients had excellent conformation of the implant to the fracture site on postoperative computed tomographic scan. Postoperative fracture-side orbital volumes were significantly less than preoperative, and not significantly different from unfractured-side orbital volumes. Total model preparation time was approximately 10 hours. Materials cost was at most $21. Plate bending time was approximately 60 seconds. Conclusions Patient-specific orbital models can speed the shaping of orbital reconstruction implants and potentially improve surgical correction of orbital fractures. Production of these models with consumer-grade technology confers the same advantages as commercial production at a fraction of the cost and time. Clinical question/level of evidence Therapeutic, IV.

Background Abnormalities in size and position of the acetabulum have been linked to both developmental dysplasia of the hip and femoroacetabular impingement. Owing to its 3-dimensional (3D) complexity, plain radiography and cross-sectional studies [computed tomography (CT) and magnetic resonance imaging] have limitations in their ability to capture the complexity of the acetabular 3D anatomy. The goal of the study was to use 3D computed tomography reconstructions to identify the acetabular lunate cartilage and measure its size at varying ages of development and between sexes. Methods Patients aged 10 to 18 years with asymptomatic hips and a CT pelvis for appendicitis were reviewed. Patients were stratified by sex and age: preadolescent (10 to 12), young adolescent (13 to 15), and old adolescent (16 to 18) in equal proportions. Materialise 3-matic was used to generate a 3D pelvic model, and the acetabular lunate cartilage surface area was calculated. The lunate cartilage was divided into anatomic segments: superior (11:00 to 1:00), anterior (1:00 to 4:00), and posterior (8:00 to 11:00). The femoral head surface area was calculated to control for patient size. Mixed effects models were generated predicting segment size where side was treated as a repeated measure. Absolute and relative (lunate cartilage to femoral head) models were generated. Results Sixty-two patients (124 hips) were included. Females showed a significant decrease in femoral head coverage as age increased overall and in the 3 subsegments. The majority of changes occurred between the preadolescent and young adolescent groups. Males did not show an overall change, but the superior and anterior anatomic subgroups showed a significant decrease in coverage between the young and old adolescent groups. Male lunate cartilages were absolutely, but not relatively, larger than females. No clinically significant side-to-side differences were noted. Conclusions The relative femoral head coverage by the acetabular lunate cartilage reduced with increasing age, suggesting the growth of the femoral head outpaces the acetabular lunate cartilage's growth. This was more prominent in females. This study has important implications for expected acetabular coverage changes in the latter aspects of pediatric and adolescent development. Level of evidence Level III-diagnostic study.

OBJECTIVE. The contrast-enhanced ultrasound (CEUS) imaging features of hepatic vascular tumors in infants, including infantile hemangioma (IH) and congenital hemangioma (CH), are not well reported....

Three-dimensional (3D) printing is an additive manufacturing process to turn digital files into graspable 3-dimentional physical objects 1.

Purpose To compare steady-state magnetic resonance angiography (SS-MRA), using a blood pool contrast agent, with the established technique of time-resolved MRA (TR-MRA), in pulmonary vein mapping and left atrial patency. Materials and Methods Twenty-one patients (12 males, age 58.3 ± 8.4 years; 9 females; 57 ± 10 years) undergoing pulmonary vein mapping were evaluated with TR-MRA (TWIST) and SS-MRA. Orthogonal measurements and areas for four veins per patient per technique were assessed by Friedman's test. Results Overall intertechnique mean difference for any pulmonary vein orthogonal measurement and area was 0.02 ± 0.34 cm (P = 0.705), and 0.2 ± 0.08 cm2 (P

Atypical mycobacterium infection most commonly presents as asymptomatic cervical lymphadenitis in immunocompetent children. Over the last several decades, rates of Mycobacterium avium complex (MAC) infection have been increasing in both number and severity, with more cases of pulmonary infection reported in healthy children. However, guidelines on how to treat children with these infections remain unclear. The presentation of this disease is variable and often presents with an indolent course of wheezing that is misdiagnosed as foreign body aspiration. Several case reports have described successful treatment of these children with surgical excision without the need for additional treatment with antimycobacterial agents. We present the case of a healthy 20-month old male with wheezing and concern for foreign body ingestion. Rigid bronchoscopy demonstrated a left bronchus mass. The patient underwent video-assisted thoracoscopic surgery (VATS) with improvement in respiratory symptoms. Final pathology showed necrotizing granulomatous infection consistent with MAC. This report demonstrates the importance of keeping intrathoracic MAC infection in the differential when evaluating an immunocompetent child with wheezing or shortness of breath.

To compare steady-state magnetic resonance angiography (SS-MRA), using a blood pool contrast agent, with the established technique of time-resolved MRA (TR-MRA), in pulmonary vein mapping and left atrial patency.Twenty-one patients (12 males, age 58.3 ± 8.4 years; 9 females; 57 ± 10 years) undergoing pulmonary vein mapping were evaluated with TR-MRA (TWIST) and SS-MRA. Orthogonal measurements and areas for four veins per patient per technique were assessed by Friedman's test.Overall intertechnique mean difference for any pulmonary vein orthogonal measurement and area was 0.02 ± 0.34 cm (P = 0.705), and 0.2 ± 0.08 cm(2) (P 0.001). Interobserver correlation was strong for diameter and area measurements using the three methods with a range of 0.72-0.94, and 0.87-0.97, respectively. Left atrial appendage image quality score for TR-MRA was significantly lower than the other two methods (P 0.001). Both observers detected more stenosis on inversion recovery (IR)-True FISP compared to TR-MRA and IR-FLASH.SS-MRA with a blood pool agent compared favorably to the established technique of TR-MRA for quantitative assessment of pulmonary venous anatomy. SS-MRA offers greater spatial resolution than TR-MRA with increased confidence for ruling out left atrial appendage filling defect.

We present an analysis of 3D blood flow in two cases of Sinus of Valsalva to right heart fistulae based on 4D flow MRI. Despite similar underlying pathology, 3D visualization revealed intricate differences in flow patterns connecting the systemic and pulmonary circulation. The cases illustrates the potential of 4D flow MRI to complement the evaluation of complex structural heart disease by assessing complex flow dynamics and providing quantitative information of flow ratios and flow rates.

We present the case of a 39-year-old physically active male amateur hockey player with a history of preductal coarctation of the aorta repaired at the age of 10 years with an ascending-to-descending aortic conduit. He presented with neurological symptoms, which were present at rest but paradoxically resolved with physical exertion, including left upper extremity weakness, dizziness, visual changes, and facial tingling. A 2008 echocardiogram demonstrated a bicuspid aortic valve with moderate regurgitation and a mildly to moderately dilated and hypertrophied left ventricle with ejection fraction of 50%. A 2009 carotid Doppler ultrasound examination demonstrated high-velocity retrograde flow in the left vertebral artery, which reduced on exertion. Stenosis of the subclavian artery, and thus subclavian steal, which has been shown to cause neurological symptoms, was ruled out by a 2010 arteriogram.1 A recent magnetic resonance imaging (MRI) evaluation (in 2011) demonstrated worsening (moderate to severe) aortic insufficiency with a clearly visible asymmetrical diastolic flow jet (Figure 1, white arrows), mild decrease of left ventricular ejection fraction, and a patent aortic bypass conduit. Figure 1. Cardiac magnetic resonance angiography demonstrating aortic valve insufficiency and a clearly visible asymmetrical flow jet (white arrows, regions with signal void in the left ventricle). The individual images represent …

Summary The purpose of the study is to evaluate a fully automated motion corrected first pass myocardial perfusion (FPMP) MRI with semi quantitative perfusion parameter maps in patients with suspected ischemic heart disease. Background Coronary heart disease is the leading cause of death and disability in the US. FPMP MRI is increasingly used to assess ischemic heart disease; however respiratory motion is one of the major problems for myocardial blood flow quantification. An algorithm for motion correction, surface coil correction, temporal denoising and robust pixel-wise parameter map generation model was previously desribed [Xue H et al MICCAI 2009).This work evaluates automated workflow in a clinical setting to diagnose ischemic heart disease comparing free breathing and motion correcteted images and corresponding pixel-wise parameter map. Methods Stress and rest FPMP images were acquired using a 1.5T scanner (MAGNETOM Avanto, Siemens Healthcare) in 39 patients with suspected ischemic heart disease. Short axis slices were acquired during infusion of 0.075 mMol/kg of Gadolinium (Magnevist, Bayer HealthCare Pharmaceuticals, USA) and adenosine (Adenoscan, AstellasPharma, USA) infusion (0.14 mg/kg/min; duration: 4 min) was administrated to induce stress. Free breathing, motion-corrected images and corresponding perfusion maps were assessed by 2 radiologists independently using the AHA 16 model and evaluated using a four point Likert scale (poor to excellent) to evaluate image quality and confidence level in presence or absence of hypo-perfusion regions. Upslope index of both free breathing and motion corrected images during stress and rest were manually calculated in nonischemic and ischemic areas and compared to the corresponding pixel-wise parameter map generated based on motion corrected images. FPMP MRI results were subsequently compared to coronary angiogram, stress echocardiography, or SPECT.

Background To quantify myocardial T2 value in patients with myocarditis and correlate the distribution of abnormal T2 values with the extent of macroscopic late gadolinium enhancement (LGE). Methods 25 patients with myocarditis were retrospectively evaluated for the utility of T2 mapping in diagnosing myocarditis. Patients with elevated troponins, negative coronary angiogram, and atypical LGE were diagnosed as acute myocarditis. Patients with normal troponins and macroscopic LGE at the time of cardiac MRI were diagnosed as remote myocarditis. As per our institutional protocol, T2 mapping sequences were performed in all cases with suspected myocarditis in addition to standard LGE images on 1.5 T scanner (Magnetom Aera and Avanto, Siemens medical solutions). T2 mapping was performed on three short axis images (base, mid chamber, and apex), yielding 16 myocardial segments for analysis (AHA segments). Single 4 chamber view image was obtained in addition. Minimum, peak and mean segmental T2 values were calculated by the first reader. Average segmental T2 values were documented along with documentation of the number of segments with elevated T2 values. The presence or absence of LGE was documented by a second reader blinded to the T2 results. Average segmental T2 values were then correlated with troponin levels at the time of the MRI examination. Results In patients with acute myocarditis, mean T2 values were elevated in segments showing LGE (average T2 value of 70 msec). The T2 values were also elevated in myocardial segments with no macroscopic LGE (avg 60 msec). On an average, there were 6 additional segments that showed elevated T2 values and no macroscopic LGE. In patients with remote myocarditis, the T2 values were normal in areas of LGE.

Background Delayed enhancement (DE) CMR is the gold standard for detecting irreversibly damaged myocardial tissue (scar). Yet, direct impact of scar on regional systolic and diastolic left ventricular (LV) function is not well understood. Standard tools for LV velocities (Tissue Doppler Imaging) are limited by poor reproducibility and incomplete assessment of all regions and motion directions. Myocardial CMR velocity mapping (MVM) is reproducible, non-invasive, and allows direct measure of myocardial velocities of all LV motion components in all regions. Here, we analyze effects of LV scar burden on myocardial motion.