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Pai syndrome is a rare congenital disorder characterized by cutaneous polyps of the face, pericallosal lipoma and median cleft lip. We report on a newborn girl with a variant of Pai syndrome presenting with all typical findings except a median cleft. In addition, fetal sonography and MRI showed the unique intrauterine evolution of a cephalocele into an atretic cephalocele.

RATIONALE Primary ciliary dyskinesia (PCD) is an inherited disorder characterized by heterogeneous airway disease. Traditional lung function techniques (e.g. spirometry) may underestimate severity and complexity of PCD. OBJECTIVES We assessed lung impairment in individuals with PCD using structural and functional magnetic resonance imaging (MRI) and different lung function techniques. METHODS Thirty study participants with PCD (median 13.4 years, range 5-28) underwent structural and functional MRI, spirometry, and multiple breath washout (MBW) on the same day. Primary endpoints included structural MRI morphology scores, relative ventilation and perfusion impairment from functional MRI, FEV1 from spirometry, and lung clearance index (LCI) from MBW. RESULTS Severity and complexity of PCD lung disease varied significantly between individuals. Structural lung disease was detected in all subjects with a median (IQR) extent score of 10.3 (7 to 19; maximum score = 60). Functional MRI ventilation impairment was present in 52% of subjects affecting 24.2% (21.1 to 25.2%) of the lung. Relative perfusion impairment was detected in 78% of individuals affecting 21.1% (19.4 to 25.9%) of the lung. LCI was abnormal in 83% (median 8.3 (2.6 to 13.2) z-scores) and FEV1 was abnormal in 27% (-0.5 (-1.6 to 0.3) z-scores) of individuals. Concordance between spirometry and imaging outcomes was poor, with 52% of patients showing both abnormal MRI and LCI values, but normal FEV1. CONCLUSIONS Discordance between lung function and imaging outcomes in patients with PCD supports the use of both imaging and lung function, such as MBW, for surveillance of this heterogeneous disease.

An 11-year-old girl presented with sudden sensory disturbance and left-sided muscle weakness. MRI revealed ischaemic change in the right lateral thalamus and the right internal capsule. During sonographic work-up of the cervical arteries, inflammation of the thyroid gland was noted. The results of the thyroid function tests and antibody titers confirmed Hashimoto thyroidits. Under high-dose corticosteroids, the girl had a full neurological recovery

In Alagille syndrome, routine follow-up imaging of the liver plays an important role in detecting early parenchymal changes and to evaluate portal hypertension. Modern contrast-enhanced imaging methods not only allow early detection of focal liver lesions, but also enable further characterization of their nature and guide biopsy procedures. We present the US and MR imaging findings of hepatocellular carcinoma and a regenerating nodule in a 3-year-old child with Alagille syndrome

Background: Backyard trampolines are immensely popular among children, but are associated with an increase of trampoline-related injuries. The aim of this study was to evaluate radiographs of children with trampoline related injuries and to determine the risk factors. Methods: Between 2003 and 2009, 286 children under the age of 16 with backyard trampoline injuries were included in the study. The number of injuries increased from 13 patients in 2003 to 86 in 2009. The median age of the 286 patients was 7 years (range: 1-15 years). Totally 140 (49%) patients were males, and 146 (51%) females. Medical records and all available diagnostic imaging were reviewed. A questionnaire was sent to the parents to evaluate the circumstances of each injury, the type of trampoline, the protection equipment and the experience of the children using the trampoline. The study was approved by the Institutional Ethics Committee of the University Hospital of Bern. Results: The questionnaires and radiographs of the 104 patients were available for evaluation. A fracture was sustained in 51 of the 104 patients. More than 75% of all patients sustaining injuries and in 90% of patients with fractures were jumping on the trampoline with other children at the time of the accident. The most common fractures were supracondylar humeral fractures (29%) and forearm fractures (25%). Fractures of the proximal tibia occurred especially in younger children between 2-5 years of age. Conclusions: Children younger than 5 years old are at risk for specific proximal tibia fractures ("Trampoline Fracture”). A child jumping simultaneously with other children has a higher risk of suffering from a fracture

Introduction: Handlebar injuries in children may lead to severe organ lesions despite minimal initial signs and without visible skin bruise. We present our experiences applying a diagnostic and therapeutic algorithm for blunt abdominal trauma, and present the history of two selected cases. Materials and methods: We retrospectively assessed the charts of children below 16years of age, only who were observed for 24h or more in our institution due to a handlebar injury between 2004 and 2011. All children were treated according to an institutional algorithm. Results: 40 patients with a median age of 9.5years were included. Diagnosed lesions were: ruptures of the liver (n=6), spleen (n=5), kidney (n=1), and pancreas (n=2), small bowel perforation (n=3), and hernias of the abdominal (n=2) or thoracic wall (n=1). Surgical interventions were performed in 8 patients. The outcome was favorable in all the cases. Overall median hospitalization duration was 4.5days (range 1-19days). The overall duration between the accident and arrival at our emergency unit was 2.75h (median, range 1-19h). 20 children presented directly at our emergency unit after a median of 1.7h (range 1-19.5h). 20 children were referred by a family physician or a primary hospital after a median of 4.0h (range 1-46h). Conclusion: Handlebar injuries in children resulted in serious trunk lesions in half of the present patient series. The spectrum of injuries in handlebar accidents varies widely, especially injuries to the abdomen can unmask often only in the course. We advocate close observation of patients with thoracic and abdominal handlebar injuries which may be regarded as blunt stab wounds. An institutional algorithm for blunt abdominal trauma management is supportive for emergency care in patients with handlebar injuries

Background: In large-bowel intussusceptions, several US signs are known to indicate a lower likelihood of reducibility by enema. US can demonstrate echogenic dots or lines (foci) in the bowel wall, which might indicate an ischemic bowel. Objective: To determine the presence of echogenic intramural and subserosal foci in large-bowel intussusceptions and to evaluate the degree of correlation with reducibility. Materials and methods: Between 2001 and 2008, 74 consecutive US examinations were retrospectively evaluated by two pediatric radiologists for intramural and subserosal echogenic foci, or trapped gas, in the intussusception. The degree of correlation between the sonographic findings and reducibility was evaluated. Results: Of 73 intussusceptions examined by US, 56 (76%) were reducible and 17 (23%) were not reducible. Out of 10 intussusceptions with intramural gas, 11 with subserosal gas, and 14 with intramural and subserosal gas, 8 (80%), 6 (56%), 9 (64%), respectively, were not reducible. The presence of intramural gas or subserosal gas or both predicted a lower chance of reduction, but with regard to the effect of these findings together, intramural gas was the only significant predictor. Conclusion: Having intramural gas in large-bowel intussusception significantly decreases the chance of reduction