Systemic and Nodular Hyperinflammation in a Patient with Refractory Familial Hemophagocytic Lymphohistiocytosis 2.

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.

Acetabular Coverage Decreases at the End of Skeletal Growth: A 3DCT Study of Healthy Hips.

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.

Contrast-Enhanced Ultrasound of Congenital and Infantile Hemangiomas: Preliminary Results From a Case Series.

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. Frequent inaccurate use of lesion terminology in the literature has created diagnostic confusion. The purpose of this study is to describe the CEUS features of IH and CH. MATERIALS AND METHODS. Ten patients, ranging in age from 8 days to 16 months, with hepatic vascular tumors were included for retrospective analysis. Gray-scale ultrasound, color Doppler ultrasound, and CEUS features were reviewed, and interobserver kappa coefficients were calculated. Final diagnoses were clinically determined by a pediatrician with expertise in vascular anomalies except in one patient who underwent surgical excision. RESULTS. Of the 10 patients, five had CHs and five had IHs. All 10 lesions were hyperenhancing in the early arterial phase. In the portal venous phase, four of five (80%) CHs showed hyperenhancement relative to normal liver parenchyma, whereas four of five (80%) IHs showed isoenhancement. In the late phase, washout of contrast material was seen in three of five (60%) IHs, whereas one IH remained isoenhancing and one IH was hyperenhancing. None of the CHs showed late washout. Interobserver kappa coefficients for CEUS features ranged from 0.60 to 1.00. CONCLUSION. Except for the CEUS feature portal venous phase enhancement (κ = 0.60), good to excellent (κ = 0.74-1.00) agreement about CEUS features of IHs and CHs was observed. A significant proportion of IHs (60%) showed washout at delayed phase imaging, which has also been reported with malignancies. Recognition of the overlap in imaging appearance of these two entities is vital to preventing misdiagnosis of malignancy.

Steady-state MRA techniques with a blood pool contrast agent improve visualization of pulmonary venous anatomy and left atrial patency compared with time-resolved MRA pre- and postcatheter ablation in atrial fibrillation.

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 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. CONCLUSION: 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.

Low-Cost, Three-Dimensionally-Printed, Anatomical Models for Optimization of Orbital Wall Reconstruction.

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.

Pediatric Atypical Mycobacterium Infection Presenting as Wheezing and Concern for Foreign Body Aspiration.

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.

Complex 3D blood flow pathways in two cases of aorta to right heart fistulae: a 4D flow MRI study.

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.