Pathologic Skull Fracture in a Near-Term Neonate with Arthrochalasia Type Ehlers-Danlos Syndrome: A Case Report.

Background: Arthrochalasia type Ehlers-Danlos Syndrome (EDS) is a connective tissue disease characterized by severe generalized joint hypermobility, congenital bilateral hip dislocations, and recurrent joint subluxations and dislocations. Only one study has reported bone fragility resulting in fractures. The genetic abnormality underlying this disorder is a variant in the COL1A1 gene causing entire or partial loss of exon 6, resulting in defective type 1 collagen synthesis. Case Report: We report a female infant born at 35 weeks of gestation presenting with pathologic skull fracture following vaginal delivery. Genetic testing revealed a pathogenic variant in the COL1A1 gene (c.472-1G > C), consistent with arthrochalasia type EDS, reported previously. Conclusion: This report adds pathologic fractures to the phenotypic breadth of this type of EDS and reinforces the importance of including the condition on the differential diagnosis when early onset non-accidental injury or trauma is being considered.

A review of congenital lung malformations with a simplified classification system for clinical and research use.

PURPOSE: Congenital lung abnormalities are rare malformations increasingly detected early by prenatal ultrasound. Whether management of these frequently asymptomatic lesions should be surgical or conservative is an unresolved issue. The necessary prospective studies are limited by the absence of a widely accepted practical classification system. Our aim was to develop a simple, clinically relevant system for classifying and studying congenital lung abnormalities. MATERIALS AND METHODS: We based our proposed grouping on a detailed analysis of clinical, radiological, and histological data from well-documented cases, plus an extensive review of the literature. RESULTS: The existence of hybrid lesions and common histological findings suggested a unified embryological mechanism-possibly obstruction of developing airways with distal dysplasia. Malformations could be classified by their anatomical and pathological findings; however, a system based on the prenatal ultrasound plus initial chest X-ray findings had greater clinical relevance: Group 1-Congenital solid/cystic lung malformation, Group 2-Congenital hyperlucent lobe, Group 3-Congenital small lung. CONCLUSIONS: Pathological classification is academically important but is unnecessarily complex for clinical and research use. Our simple radiological-based system allows unambiguous comparison between the results of different studies and also guides the choice of necessary investigations specific to each group.

Umbilical Venous Catheter Position: The Value of Acquiring a Lateral in Addition to a Frontal Chest Radiograph.

Introduction Umbilical venous catheters (UVCs) are standardly used for central venous access in acutely sick neonates. Complications associated with UVCs include thrombosis, infection, diffuse intravascular coagulopathy, arrhythmia, tamponade, and liver injury, many of which are related to misplacement of the catheters. Therefore, this study aimed to institute a policy of obtaining lateral and frontal radiographs to improve the determination of the UVC position. Methods We retrospectively reviewed UVC placement from 132 radiographs. We compared interpretations by different reviewers of frontal versus frontal and lateral chest radiographs for the most accurate determination of the UVC position. The reviewers completed questionnaires indicating their assessment of the catheter tip position, as well as the appropriate catheter manipulation required for optimal positioning. Their assessment was derived from frontal chest radiographs followed by frontal plus lateral view radiographs a week later. Results The reviewers (junior neonatology fellow, senior neonatology fellow, pediatric radiology fellow, and senior pediatric radiologist) revised their assessment with regard to the UVC positioning between frontal and frontal plus lateral radiographs in 24.6%, 22.7%, 19.6%, and 15.9% of cases, respectively, and indicated that the lateral view was helpful in 18%, 13.6%, 19.6%, and 31% of the cases, respectively. UVCs were placed appropriately at the first attempt in only 13.6% of the cases. Conclusion Correct initial placement of a UVC is uncommon. A lateral radiograph is beneficial in determining the UVC position. Hence, we suggest the inclusion of a lateral view along with the frontal chest radiograph for the evaluation of the UVC position if real-time ultrasound cannot be performed before UVC usage.

Capsule Endoscopy Complements Magnetic Resonance Enterography and Endoscopy in Evaluating Small Bowel Crohn's Disease.

AIMS: Wireless capsule endoscopy (WCE) and magnetic resonance enterography (MRE) are increasingly utilized to evaluate the small bowel (SB) in Crohn's disease (CD). The primary aims were to compare the ability of WCE and MRE to detect SB inflammation in children with newly diagnosed CD, and in the terminal ileum (TI) to compare them to ileo-colonoscopy. Secondary aims were to compare diagnostic accuracy of WCE and MRE and changes in Paris classification after each study. METHODS: Patients (10 to 17 years of age) requiring ileo-colonoscopy for suspected CD were invited to participate. Only patients with endoscopic/histologic evidence of CD underwent MRE and WCE. SB inflammation and extent were documented and comparative analyses performed. RESULTS: Of 38 initially recruited subjects, 20 completed the study. WCE and MRE were similarly sensitive in identifying active TI inflammation (16 [80%] versus 12 [60%]) and any SB inflammation (17 [85%] versus 16 [80%]). However, WCE detected more extensive SB disease than MRE with active inflammation throughout the SB in 15 [75%] versus 1 [5%] patient (P < 0.001). Moreover, WCE was more likely to detect proximal SB disease (jejunum and ileum) compared to MRE (85% versus 50%, P = 0.04). Overall, the Paris classification changed in 65% and 85% of patients following MRE and WCE, respectively. CONCLUSIONS: WCE is as sensitive as MRE for identifying active TI inflammation, but appears more sensitive in identifying more proximal SB inflammation. In the absence of concern regarding stricturing or extra-luminal disease WCE can be considered for the evaluation of suspected SB CD.

An audit of cancer diagnosis in a Canadian children's hospital: Quality, timing and efficiency.

BACKGROUND AND OBJECTIVE: The diagnosis of paediatric cancer requires multidisciplinary cooperation to achieve both a timely diagnosis and efficient resource use. The authors undertook a 12-month audit of paediatric cancer cases to assess BC's Children's Hospital's (Vancouver, British Columbia) diagnostic process from the perspective of quality (timing and accuracy of diagnosis) and procedural efficiency, with an emphasis on the impact on resource use in the departments of radiology, pathology, anesthesia and surgery. METHODS: Malignancies (excluding brain and cortical bone primary tumours, for which the preoperative diagnostic workup is often completed before admission) diagnosed between January 1 to December 31, 2003, were reviewed. Data collected included total outpatient versus inpatient procedures, number and timing of diagnostic procedures, general anesthesia (GA) requirements, and lag times from admission to biopsy to diagnosis during the initial hospitalization. RESULTS: Fifty-four patients were identified. Only 10 patients (19%) had an outpatient diagnostic procedure. One hundred seventeen inpatient diagnostic procedures were performed, with only 50% occurring within regular working hours. Thirty-one per cent of patients required two or more procedural GAs during their initial hospital admission. The mean lag time to biopsy was 2.6 days and to a pathological diagnosis was 1.2 days. CONCLUSIONS: Despite timeliness, the process of cancer diagnosis at BC Children's Hospital requires hospital admission and a significant consumption of resources outside of regular working hours. Opportunities for improvement include maximizing outpatient workup, allocating oncology operating room time to increase the percentage of weekday procedures and improving interdisciplinary procedural coordination to reduce the GA requirements per patient.

The treatment of abdominoscrotal hydrocele: Is there a role for nonoperative management?

BACKGROUND/PURPOSE: Abdominoscrotal hydrocele (ASH) is an uncommon entity. Until now, the recommended treatment has been surgical. There is only one successful case of nonoperative management reported in literature. We report the largest series of children with ASH, and provide evidence in support of an initial nonoperative approach. METHODS: This study is a retrospective chart review of patients treated from 1994 to 2015 with ASH at a single institution. RESULTS: Thirty patients were identified with ASH, with 29 included in the analysis. Nine patients (30%) had operative management with an 80% complication rate. Twenty out of 29 patients (70%) were initially managed expectantly. Sixteen (80%) had resolution of their abdominal component, twelve (60%) of which went on to have full resolution of ASH. Four patients (20%) in this group required operative management of ASH. CONCLUSIONS: ASH should be included in the differential diagnosis of pediatric scrotal swelling. The "Springing Back Ball Sign" should be used as a screening tool. If it is positive, a dynamic ultrasound should be performed to confirm the diagnosis. We recommend observation as the first step in the management of uncomplicated ASH. It can result in avoidance of operation or at least lower the complication risk significantly if operation is required. LEVEL OF EVIDENCE: 4.

Early ultrasonographic evaluation of idiopathic clubfeet treated with manipulations, casts, and Botox(®): a double-blind randomized control trial.

BACKGROUND: The manipulations, casts, and Botox(®) method for treating idiopathic clubfoot is an alternative non-surgical treatment method. Botox(®)-induced reversible muscle paralysis of the gastrocsoleus enables a physician to manipulate and cast the clubfoot in greater dorsiflexion. Ultrasound is incorporated during the early treatment stages to monitor the underlying physiology of the muscle-tendon unit following Botox(®). METHODS: Ultrasonographic evaluation was performed parallel to a double-blind randomized control trial administering Botox(®) or placebo to correct clubfoot. Patients underwent two-dimensional ultrasound to monitor the length changes to the gastrocsoleus and Achilles tendon unit at two time points: pre-injection (baseline) and 6 weeks post-blinded injection. Gastrocsoleus and Achilles tendon length measurements were analyzed among placebo, Botox(®) and contralateral controls using repeated measures ANOVA. RESULTS: The baseline gastrocsoleus length of the clubfoot (322.4 pixels) before blinded injection appears shorter than controls (337.5 pixels), but fails to reach significance (p = 0.05). The complex length within each of the three treatment groups displayed no significant change between baseline and 6 weeks. The complex-tendon ratio and muscle-tendon ratio of the Botox(®) treatment group was significantly decreased compared to controls (p = 0.049 and 0.042, respectively). Briefly, when expressed as a proportion, an increase in Achilles tendon length and decrease in gastrocsoleus is observed when clubfeet are treated with Botox(®). CONCLUSIONS: Only in the Botox(®) treatment cohort did the muscle shrink to uncover tendon (seen as a decreased complex-tendon ratio and muscle-tendon ratio) over the 6-week interval to effectively increase tendon length with respect to the unit as a whole.

Magnetic resonance imaging of the perineum in pediatric patients with inflammatory bowel disease.

Magnetic resonance imaging (MRI) has profoundly changed and improved the investigation of abdominal and pelvic inflammatory bowel disease (IBD) in pediatrics. Using an imaging modality without ionizing radiation is of particular advantage because the pediatric IBD population is young and often requires repeat evaluation. MRI of the pelvis has become the imaging gold standard for detecting and monitoring perianal disease while bowel-directed imaging techniques (eg, enterography, enteroclysis and colonography) can accurately evaluate bowel inflammation in IBD. With recent technological innovations leading to faster and higher resolution, the role of MRI in IBD will likely continue to expand. The present article focuses on MRI of the perineum in pediatric IBD.

Pulmonary Langerhans cell histiocytosis: a comparative study of computed tomography in children and adults.

PURPOSE: Langerhans cell histiocytosis is a rare idiopathic disorder, characterized by the infiltration of 1 or more organs by large mononuclear cells. It can develop at any age. Pulmonary Langerhans cell histiocytosis (PLCH) is found more frequently and is better described in adults than in children. The PLCH findings on computed tomography (CT) scans include nodular opacities, thin-walled cysts (often bizarre in shape), and marked parenchymal fibrosis. The purpose of this study was to compare the chest CT findings between adults and children with PLCH. MATERIALS AND METHODS: We retrospectively analyzed the chest CT findings in a series of 7 children and 12 adults. Two independent observers reviewed the CT studies of all cases, and then correlated their observations. Statistical analysis was done with the Fisher exact test. RESULTS: The mean ages were 8 years (3 mo to 16 y) for the pediatric group and 39 years (21 to 59 y) for the adults. Extrapulmonary disease was present in 3 (43%) children and 1 (8.3%) adult. All the adults reported smoking, and only 1 pediatric patient (16 y old) had a history of smoking. The CT findings were characterized by the presence of cysts, fibrosis, and nodules, with the findings being similar in size and appearance for both populations. However, the distribution was different; the subpleural parenchyma in the costophrenic recess was spared in the entire adult group, but not spared in any of the pediatric patients. CONCLUSIONS: The CT findings of PLCH were similar in the adult and the pediatric populations, with the exception that costophrenic recess subpleural parenchyma was spared in the adult group but demonstrated pathology in the pediatric group.

Traumatic pseudoaneurysms of the liver and spleen in children: is routine screening warranted?

BACKGROUND: Although blunt injury to the spleen and liver can lead to pseudoaneurysm formation, current surgical guidelines do not recommend follow-up imaging. Controversy exists regarding the clinical implications of these traumatic pseudoaneurysms as well as their management. METHODS: Retrospective review of children treated nonoperatively for isolated blunt liver and spleen trauma between 1991 and 2008 was undertaken. Patient demographics, grade of injury, and follow-up Doppler ultrasound results were obtained. RESULTS: Three hundred sixty-two children were identified. One hundred eighty-six of them had splenic injuries, and 10 (5.4%) developed pseudoaneurysms. They were associated with grade III (3/39 [8%]) and grade IV (7/41 [17%]) injuries. In 7 patients, the pseudoaneurysm thrombosed spontaneously. Angiographic embolization was required in 2 children, and one underwent emergency splenectomy for delayed hemorrhage. Of the 176 patients who had liver injuries, 3 (1.7%) developed pseudoaneurysms. All 3 were associated with grade IV injuries (3/11 [27%]). One child underwent early embolization, while 2 developed delayed hemorrhage requiring emergent treatment. CONCLUSIONS: Pseudoaneurysm development after blunt abdominal trauma is associated with high-grade splenic and liver injuries. Routine screening of this group of patients before discharge from hospital may be warranted because of the potential risk of life-threatening hemorrhage.

The use of CT in the development and implementation of a preoperative protocol to aid in pedicle screw placement during scoliosis surgery.

Scoliosis surgical constructs, using pedicle screws, provide increased fixed penetrable points for rod attachment. This allows improved curve correction and increases hardware stability. We have implemented a multidetector CT evaluation of the spine with post-process image manipulation to aid pedicle screw placement for deformity correction. Preoperative scanning was done with a Philips Brilliance 16 multislice CT scanner. The created image dataset provided valuable preoperative information regarding pedicle morphology, suitability for screw placement and preoperative screw planning. Projected intraoperatively, the images increased the surgeon's confidence during screw placement, especially in large deformities with severe rotation. Improving pre- and intraoperative pedicle information is a valuable tool in operative management of children with spinal deformity.

Os odontoideum: a significant radiographic finding.

Os odontoideum can lead to instability of the atlantoaxial joint and places the spinal cord at significant risk for acute catastrophic events after minor trauma or chronic neurological change. We present two cases of os odontoideum in pediatric patients that were not appreciated at earlier remote imaging but were, in retrospect, detectable. One patient presented with an acute spinal cord injury. Incorporating assessment of dens integrity into the evaluation algorithm for all pediatric cervical spine studies should lead to early detection of os odontoideum lesions and allow referral to appropriate clinical spinal services for evaluation, surveillance and possible surgery to prevent future complications.

Increased inspiratory pressure for reduction of atelectasis in children anesthetized for CT scan.

BACKGROUND: Atelectasis is more frequent and more severe in children anesthetized for CT scan than it is in children sedated for CT scan. OBJECTIVE: To determine the effect of increased inspiratory pressure on atelectasis during chest CT in anesthetized children. MATERIALS AND METHODS: Atelectasis on chest CT was assessed by two observers in three groups of patients. Group A comprised 13 children (26 lungs) anesthetized at inspiratory pressures up to and including 25 cm H2O. Group B included 11 children anesthetized at inspiratory pressures > or =30 cm H2O. Group C included 8 children under deep sedation. RESULTS: Atelectasis was significantly more severe in group A than in groups B and C. There was no significant difference between groups B and C. CONCLUSION: An inspiratory pressure of 30 cm H2O is recommended for children anesthetized for CT scan of the chest.

Comparison of multidetector CT and barium studies of the small bowel: inflammatory bowel disease in children.

OBJECTIVE: We compared barium studies of the small bowel with multidetector CT (MDCT) in the evaluation of the small bowel during the initial presentation of inflammatory bowel disease in a pediatric population. SUBJECTS AND METHODS: This was a prospective study. Eighteen children undergoing workup for inflammatory bowel disease underwent MDCT, colonoscopy, and barium studies of the small bowel before commencement of therapy. Examinations were independently reviewed. The patients and their guardians completed a questionnaire assessing the acceptability of each study. RESULTS: In 13 of 18 children, the findings of MDCT and barium studies of the small bowel concurred in the evaluation of terminal ileum disease. In three of these children, MDCT detected skip segments of small-bowel disease not detected on barium studies of the small bowel. In two of 18 children, the terminal ileum was not visualized on barium studies of the small bowel, whereas MDCT showed substantial terminal ileum disease in both children. In three of 18 children, there was discordance between the two tests regarding terminal ileum disease. However, these discordant imaging findings were all subtle. In addition, MDCT revealed extraenteric abnormalities, clinically relevant in two children (ureteric obstruction and perirectal abscess), and showed the colon in all children, seven of whom had incomplete colonoscopy. The questionnaire revealed that 16 of 18 patients preferred MDCT to small-bowel barium studies. The reasons given were poor tolerance of oral barium and the long duration of barium studies of the small bowel. CONCLUSION: MDCT can be an alternative to barium studies of the small bowel for evaluation of the small bowel in patients with inflammatory bowel disease. MDCT also offers additional, clinically relevant information not obtained by small-bowel barium studies.

Does the transition zone reliably delineate aganglionic bowel in Hirschsprung's disease?

BACKGROUND: Knowledge of the extent of aganglionic bowel is important for preoperative planning of trans-anal surgery in patients with Hirschsprung's disease (HD). OBJECTIVE: To evaluate the accuracy of the transition zone, as identified by contrast enema study, for identifying the extent of aganglionic bowel. MATERIALS AND METHODS: A total of 32 patients with preoperative contrast enema studies and pathologic identification of aganglionic extent were reviewed. Two pediatric radiologists independently reviewed the contrast enema studies. The radiographic transition zone was compared to the pathological extent of aganglionic bowel. RESULTS: Radiologist agreement of the site of transition zone on contrast enema was 90.6%. The concordance between the radiographic transition zone and pathologic extent of aganglionic bowel was 62.5%. The subgroup of patients with long-segment HD revealed a concordance of only 25%. CONCLUSION: Contrast enema delineation of the transition zone in HD needs to be regarded with caution. This is especially true in long-segment disease, where knowledge of the extent of aganglionic bowel is most crucial to surgical planning.

Are localized intestinal perforations distinct from necrotizing enterocolitis?

BACKGROUND/PURPOSE: Localized intestinal perforation (LP) is thought to be a distinct entity when compared with perforation associated with necrotizing enterocolitis (NEC). Studies have indicated that LP is more amenable to percutaneous drainage and associated with a better outcome. We sought to determine whether LP and NEC could be distinguished based on clinical parameters alone. METHODS: A retrospective review of 40 neonates with gastrointestinal perforations between January 1990 and May 1998 was performed. All had undergone laparotomy and had histologic specimens available for evaluation. RESULTS: Twenty-one neonates had necrotizing enterocolitis (NEC), and 19 had localized perforation (LP) based on histologic criteria. More neonates with LP were exposed to prenatal indomethacin (37% v 5%; P <.05), received intravenous dexamethasone (42% v 10%; P <.05), had umbilical artery catheters (63% v 14%; P <.05), and had a higher white blood cell (WBC) count (27.1 +/- 23.1 v 14.3 +/- 11.5; P <.05). More neonates with NEC had pneumatosis intestinalis (47% v 11%; P <.05). No significant differences existed in enteral feeding (16% LP v 38% NEC) or overall mortality rate (37% LP v 38% NEC). No statistical differences in the timing of perforation or clinical presentation were found. CONCLUSIONS: NEC and LP are difficult to distinguish based on clinical parameters alone. The authors did find associations between LP and prenatal indomethacin, intravenous dexamethasone, umbilical artery catheters, and a higher WBC count. Mortality rate and clinical outcome were nearly identical in both groups. Pneumatosis intestinalis, thought to be pathognomonic for NEC, was seen on abdominal radiograph in 2 babies with histologically proven LP.