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.

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.

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.

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.

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.

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.