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There are many areas where pediatric radiology differs substantially from adult radiology. Limited information is available about the frequency, types, and causes of diagnostic errors in imaging of children and especially in the emergency setting. Errors can be related to technical challenges, a wide spectrum of anatomical and developmental variants which may mimic disease, as well as a difference in pathological processes and diseases affecting children. In our department, we have a quality assurance committee with a process for assessment and evaluation of errors in our pediatric imaging practice. This has presented an educational opportunity for improved detection and prevention of errors. The material in this chapter is partly based on this. We will review some of the common errors that can be encountered in emergency imaging of the pediatric patient, using a regional approach.

The Kwak Thyroid Imaging Reporting and Data System (Kwak-TI-RADS) guideline (2011) and American College of Radiology Thyroid Imaging Reporting and Data System (ACR TI-RADS) guideline (2017) were developed as ultrasound (US) risk stratification tools for detecting thyroid malignancy in adults. The purpose of this study was to investigate the inter-rater reliability and diagnostic performance of the ACR TI-RADS guideline in the pediatric population and compare it to the Kwak guideline. This retrospective study comprised 75 children who underwent thyroid US at a tertiary-level pediatric hospital. Three pediatric radiologists and one pediatric radiology fellow graded the US findings using the Kwak-TI-RADS and ACR TI-RADS guidelines. We assessed reliability of radiologists’ ratings using percentage inter-rater agreement, and intra-class correlation coefficients (ICC2,1). We assessed area-under-the-receiver-operating-characteristic curve (AUROCC) to compare the discriminative diagnostic ability of the Kwak-TI-RADS and ACR TI-RADS scoring systems against histopathology/cytology, or stability on US over a 2-year follow-up period for cases without tissue diagnosis. The inter-rater agreement was significantly better for the ACR TI-RADS level compared to the Kwak-TI-RADS level (P

Serine deficiency disorders can result from deficiency in one of three enzymes. Deficiency of the second enzyme, 3-phosphoserine aminotransferase (PSAT), has been reported in two siblings; the eldest investigated for acquired microcephaly, spasticity and epilepsy. Our patient had neurological symptoms at birth. Fetal magnetic resonance imaging (MRI) at 35-week gestation demonstrated microencephaly and gyral simplification (anterior posterior) which was confirmed upon postnatal MRI. Congenital microcephaly was apparent at birth. PSAT deficiency was confirmed when exome sequencing identified biallelic mutations in

Inflammation and damage in the temporomandibular joint (TMJ) often develop without clinical symptoms but can lead to severe facial growth abnormalities and impaired health-related quality of life, making early diagnosis of TMJ changes crucial to identify. Inflammatory and osteochondral changes detectable through magnetic resonance imaging (MRI) occur in TMJs of approximately 40% of children with juvenile idiopathic arthritis (JIA), and no other imaging modality or physical method of examination can reliably detect these changes. Therefore contrast-enhanced MRI is the diagnostic standard for diagnosis and interval monitoring of JIA. However the specific usage of MRI for TMJ arthritis is not standardized at present. There is a recognized need for a consensus effort toward standardization of an imaging protocol with required and optional sequences to improve detection of pathological changes and shorten study time. Such a consensus imaging protocol is important for providing maximum information with minimally necessary sequences in a way that allows inter-site comparison of results of clinical trials and improved clinical management. In this paper we describe the challenges of TMJ imaging and present expert-panel consensus suggestions for a standardized TMJ MRI protocol.

Background: Infantile spasm is a type of pediatric seizure often associated with a negative prognosis. The aim of this study was to evaluate the role of Magnetic Resonance Imaging (MRI) in categorization and neurodevelopmental outcomes in children with infantile spasm. Materials and Methods: A retrospective study of the clinical charts and MRI findings of infants diagnosed with infantile spasm between December 2007 and February 2014. Results: A total of 26 children (16 males; 1.6/1) were included: 8 of unknown etiology and 18 with a genetic/structural-metabolic causes. Unknown etiology cases revealed normal brain MRI in 5/8 (62.5%). In the genetic/ structural-metabolic group, only 2/18 (11.1%) had normal imaging. Abnormal imaging findings significantly correlated with genetic/structural-metabolic infantile spasm which had unfavorable neurodevelopmental outcome. Conclusion: Neuroimaging conveys substantial information to the further categorization of children with infantile spasm, providing not only relevant information of the underlying cause but also the prediction of the neurodevelopmental outcome.

Objective: The temporomandibular joints (TMJs) are frequently affected in children with juvenile idiopathic arthritis (JIA). Early detection is challenging, as major variation is present in scoring TMJ pathology on magnetic resonance imaging (MRI). Consensus-driven development and validation of an MRI scoring system for TMJs has important clinical utility in timely improvement of diagnosis and serving as an outcome measure. We report on a multi-institutional collaboration toward developing a TMJ MRI scoring system for JIA. Methods: Seven readers independently assessed MRI scans from 21 patients (42 TMJs, from patients ages 6–16 years) using 3 existing MRI scoring systems from American, German, and Swiss institutions. Reliability scores, scoring system definitions, and items were discussed among 10 JIA experts through 2 rounds of Delphi surveys, nominal group voting, and subsequent consensus meetings to create a novel TMJ MRI scoring system. Results: Average-measure absolute agreement intraclass correlation coefficients (avICCs) for the total scores of all 3 scoring systems were highly reliable at 0.96 each. Osteochondral items showed higher reliability than inflammatory items. An additive system was deemed preferable for assessing minor joint changes over time. Eight items were considered sufficiently reliable and/or important for integration into the consensus scoring system: bone marrow edema and enhancement (avICC 0.57–0.61, smallest detectable difference [SDD] ± 45–63% prior to redefining), condylar flattening (avICC 0.95–0.96, SDD ± 23–28%), effusions (avICC 0.85–0.88, SDD ± 25–26%), erosions (avICC 0.94, SDD ± 20%), synovial enhancement and thickening (previously combined, avICC 0.90–0.91, SDD ± 33%), and disk abnormalities (avICC 0.90, SDD ± 19%). Conclusion: A novel TMJ MRI scoring system was developed by consensus. Further iterative refinements and reliability testing are warranted in upcoming studies.

BACKGROUND Therapeutic hypothermia (TH), initiated < 6h of life, is the standard treatment for infants with moderate to severe hypoxic ischemic encephalopathy (HIE). While preclinical studies show that TH is more effective when started early, little clinical data exists. OBJECTIVES The objectives of our study are to examine the effect of early vs. late TH on the severity and pattern of brain injury on MRI and on the neurodevelopmental outcomes. DESIGN/METHODS This retrospective cohort included infants with HIE treated with TH at a level three neonatal intensive care unit between 2009 and 2016. Babies were grouped into: early cooling (TH started ≤ 180 minutes of life) or late cooling (TH started > 180 minutes of life). Two radiologists evaluated the severity and pattern of brain injury on MRI using both NICHD and Barkovich scoring system. Neurodevelopmental outcomes were evaluated at 4, 10, 18 and 48 months. RESULTS Ninety-four patients (median gestational age 39 weeks; median birth weight 3.3 kg) were included in the study, 55 in the early cooling and 39 in the late cooling group. The early cooling group included more patients with severe HIE (32.7% vs 10.3%, p=0.01). No difference was observed between the 2 groups in regard to the pattern and severity of brain injury. In the late cooling group, there was a trend toward more severe watershed (WS) injury (WS score ≥3) (30.6% vs 17%, p=0.19) and more moderate to severe brain injury (33.3% vs 23.4%, p=0.33). There was no difference in the neurodevelopmental outcomes between the 2 groups. CONCLUSION TH initiated early (before 180 minutes of life) was neither associated with a difference in brain injury on MRI nor better neurodevelopmental outcomes. Despite having more infants with severe HIE in the early cooling group, there was a trend toward less significant brain injury in this group.

Aim To investigate if magnetic resonance imaging (MRI) features of the placenta are different in fetuses with and without central nervous system (CNS) abnormalities. Material and methods Institutional research ethics board approval was obtained. Fetal MRI of 97 singleton pregnancies were analysed retrospectively (19–25 weeks gestation), 65 with CNS morphological abnormalities and 32 controls. Placental T2 signal intensity, placental and fetal volumes, placental-to-fetal volume ratio, and placental apparent diffusion coefficient (ADC) values were assessed. Measurements were compared with the presence or absence of CNS fetal abnormalities using the Mann–Whitney test. Separate slopes models and intercept models were used to check for significant differences in the slopes and intercepts, respectively, among the groups. Results Placental ADC values were significantly lower in placentas of fetuses with CNS abnormalities compared to controls (p=0.04). Placental T2 signal intensity, fetal and placental volumes did not differ between the two groups. The rate of increase in fetal-to-placental volume ratio with gestational age (GA) was greater among the controls. Conclusion The presence of fetal CNS abnormalities is associated with reduced ADC values of the placenta. Moreover, placentas of fetuses with CNS abnormalities show a less rapid increase in fetal to placental volume ratio with GA. Therefore, ADC mapping, as well as different growth kinetics of the placenta relative to the fetus, may potentially serve as early markers of pathological neurodevelopment.

BACKGROUND AND PURPOSE: Stronger magnetic fields have the potential to improve fetal image resolution. Our objective was to detect whether there was better anatomic resolution of brain structures in fetuses imaged with a 3T magnet compared with a 1.5T magnet. MATERIALS AND METHODS: Multiple cerebral and facial anatomic structures were retrospectively assessed in 28 fetal MR imaging scans with normal findings (12 at 3T and 16 at 1.5T) with a 0–3 grading score. Fetuses were assessed during the second trimesters (gestational age, 20–24 weeks). The association between the quality ratings and magnetic field strengths (1.5T versus 3T) was evaluated by a linear mixed-effects model. A quantitative assessment of the signal intensity was also performed in the different layers of the developing brain. Comparative log-ratios were calculated across the different layers of the fetal brain. RESULTS: There was a statistically significant interaction between location and magnetic field strength (P < .001). The cerebral structures of the cerebellum, pons, venous system, semicircular canal, and cochlea showed statistically significant higher values on the 3T magnet. Similarly, statistical significance was also obtained on the quantitative assessment of the multilayer appearance of the brain; the 3T magnet had a median factor of 8.38 higher than the 1.5T magnet (95% CI, 4.73–14.82). Other anatomic structures assessed in the supratentorial compartment of the brain showed higher values on the 3T magnet with no statistical significance. CONCLUSIONS: Both magnets depict cerebral and facial normal anatomic structures; however, our data indicates better anatomic detail on the 3T than on the 1.5T magnet.

OBJECTIVE. Our objective was to evaluate the diagnostic accuracy and reliability of MRI and its ability to depict responsiveness to treatment for the evaluation of the axial joints (temporomandibular joint [TMJ], spinal joints, and sacroiliac joints) in juvenile idiopathic arthritis (JIA). CONCLUSION. There is fair (grade B) evidence that MRI is an accurate diagnostic method for evaluating early and intermediate changes in the TMJ in JIA and insufficient evidence to indicate MRI is an accurate diagnostic method for detecting JIA in the spinal (grade I) and sacroiliac (grade I) joints.

Objective To describe a case of pediatric central nervous system (CNS) venulitis. Background Primary angiitis of the CNS is a rare but increasingly well-recognized cause of morbidity in children. It primarily involves the arteries and arterioles of the CNS, with only 1 published case of a pediatric patient found to have isolated CNS venulitis on brain biopsy. Case Report A 17-year-old female with a 4-year history of migraines presented with increasingly frequent migraines and right-sided hemiplegia. Infectious, hematologic, and rheumatologic work-ups were negative. Brain magnetic resonance imaging showed multiple rim-enhancing lesions consistent with calcifications affecting the deep left white matter. On brain biopsy, there was evidence of an inflammatory process involving small veins and venules. The patient displayed clinical improvement with a course of high-dose steroids and 6 monthly cyclophosphamide infusions followed by maintenance therapy with mycophenolate mofetil. Discussion We describe a case of pediatric CNS venulitis presenting with migraine.

Dysembryoplastic neuroepithelial tumors (DNET) are classically considered as benign, cortically based tumors that are stable. However, there were case reports that suggested DNET may not be as benign as previously thought. The purpose of our study was to identify atypical location, characteristics, and behavior of DNET in children.The MRI images of 51 patients with pathologically proven DNET were retrospectively reviewed. The following were assessed: tumor location, neuroimaging appearances including hemorrhage, calcification and edema, tumor growth preoperatively and after subtotal resection, tumor recurrence, malignant transformation, and metastatic seeding.Two (3.9 %) patients had intraventricular lesions, three (5.9 %) had associated edema, three (5.9 %) had calcifications, and one (2 %) had hemorrhage on preoperative CT and MRI. Sixteen of 51 (31.4 %) lesions exhibited enhancement post gadolinium administration. Six of 29 (20.7 %) preoperative lesions that had follow-up imaging were enlarging prior to surgery. In 6 of 18 (33.3 %) with subtotal resection, there was an increase in size of the residual tumor. Tumor recurrence at the surgical bed occurred in 3 of 30 (10 %) patients who had gross total resection. Two of 51 (3.9 %) cases developed secondary lesions distant to the primary tumor; the secondary lesions were within the lateral ventricles.In children, DNET may have atypical location, characteristics and behavior, including growth of primary or residual lesions and multifocal tumor. These findings emphasize the need for follow-up of patients with DNET post-resection.

Distal deletion of the long arm of chromosome 10 is associated with a dysmorphic craniofacial appearance, microcephaly, behavioral issues, developmental delay, intellectual disability, and ocular, urogenital, and limb abnormalities. Herein, we present clinical, molecular, and cytogenetic investigations of four patients, including two siblings, with nearly identical terminal deletions of 10q26.3, all of whom have an atypical presentation of this syndrome. Their prominent features include ataxia, mild-to-moderate intellectual disability, and hyperemia of the hands and feet, and they do not display many of the other features commonly associated with deletions of this region. These results point to a novel gene locus associated with ataxia and highlight the variability of the clinical presentation of patients with deletions of this region.

BACKGROUND: Radiography, typically the first-line imaging study for diagnosis of craniosynostosis, exposes infants to ionizing radiation. We aimed to compare the accuracy of cranial ultrasound (CUS) with radiography for the diagnosis or exclusion of craniosynostosis. METHODS: Children aged 0 to 12 months who were assessed for craniosynostosis during 2011–2013 by using 4-view skull radiography and CUS of the sagittal, coronal, lambdoid, and metopic sutures were included in this prospective study. Institutional review board approval and parental informed consent were obtained. CUS and radiography were interpreted independently and blindly by 2 pediatric radiologists; conflicts were resolved in consensus. Sutures were characterized as closed, normal, or indeterminate. Correlation between CUS and radiography and interreader agreement were examined for each suture. RESULTS: A total of 126 children (82 boys, 64.5%) ages 8 to 343 days were included. All sutures were normal on CUS and radiography in 115 patients (93.7%); craniosynostosis of 1 suture was detected in 8 (6.3%, 5 sagittal, 2 metopic, 1 coronal). In 3 cases the metopic suture was closed (n = 2) or indeterminate on CUS (n = 1) but normally closed on radiography. CUS sensitivity was 100%, specificity 98% (95% confidence interval 94%–100%). Reader agreement was 100% for sagittal, coronal, and lambdoid sutures (κ = 0.80); after consensus, disagreement remained on 3 metopic sutures. CONCLUSIONS: In this series, CUS could be safely used as a first-line imaging tool in the investigation of craniosynostosis, reducing the need for radiographs in young children. Additional assessment may be required for accurate assessment of the metopic suture.

Occipital bone compression of the superior sagittal sinus occurs in supine neonates. The authors previously showed that this compression is associated with neonatal cerebral sinovenous thrombosis, an important neonatal neurological condition, presumably via increased venous stasis. They hypothesized that a pillow alleviating occipital compression could improve cerebral venous flow. Neonates without cerebral sinovenous thrombosis requiring brain magnetic resonance imaging/venography were prospectively enrolled. Demographics, imaging indications, head position, and superior sagittal sinus compression were recorded. Flow velocities in the anterior and posterior superior sagittal sinus and sigmoid sinus before and after pillow placement were quantified using Doppler ultrasound. A total of 10 neonates (6 female, median postconceptional age 40.6 weeks) were enrolled. Flow velocities increased beyond the superior sagittal sinus compression point following pillow placement: 0.09 ± 0.04 m/sec to 0.15 ± 0.12 m/sec ( P = .047) for posterior superior sagittal sinus; 0.10 ± 0.05 m/sec to 0.19 ± 0.15 m/sec ( P = .005) for sigmoid sinus. Pillow decompression can improve neonatal cerebral venous flow, representing a potential noninvasive intervention for the prevention and treatment of neonatal cerebral sinovenous thrombosis.

Color Doppler US (CDUS) has been used for evaluation of cerebral venous sinuses in neonates. However, there is very limited information available regarding the appearance of superficial and deep normal cerebral venous sinuses using CDUS and the specificity of the technique to rule out disease.To determine the specificity, inter-modality and inter-reader agreement of color Doppler US (CDUS). To evaluate normal cerebral venous sinuses in neonates in comparison to MR venography (MRV).Newborns undergoing a clinically indicated brain MRI were prospectively evaluated. All underwent a dedicated CDUS of the cerebral venous sinuses within 10 h (mean, 3.5 h, range, and 2-7.6 h) of the MRI study using a standard protocol.Fifty consecutive neonates participated in the study (30 males [60%]; 25-41 weeks old; mean, 37 weeks). The mean time interval between the date of birth and the CDUS study was 19.1 days. No cases showed evidence of thrombosis. Overall agreement for US reading was 97% (range, 82-100%), for MRV reading, 99% (range, 96-100%) and for intermodality, 100% (range, 96-100%). Excellent US-MRI agreement was noted for superior sagittal sinus, cerebral veins, straight sinus, torcular Herophili, sigmoid sinus, superior jugular veins (94-98%) and transverse sinuses (82-86%). In 10 cases (20%), MRV showed flow gaps whereas normal flow was demonstrated with US. Visualization of the inferior sagittal sinus was limited with both imaging techniques.Excellent reading agreement was noted for US, MRV and intermodality. CDUS is highly specific to rule out cerebral venous thrombosis in neonates and holds potential for clinical application as part of clinical-laboratory-imaging algorithms of pre/post-test probabilities of disease.

Background: Serine deficiency disorders can result from deficiency in one of three enzymes. Deficiency of the second enzyme in the serine biosynthesis pathway, 3-phosphoserine aminotransferase (PSAT), has been reported in two siblings when the eldest was investigated for acquired microcephaly, progressive spasticity and intractable epilepsy. Methods: Our patient had neurological symptoms apparent at birth. Fetal magnetic resonance imaging (MRI) at 35 weeks gestation demonstrated microencephaly and simplification of the the gyration (anterior>posterior) which was confirmed upon subsequent post-natal MRI. Congenital microcephaly was apparent at birth. Results: PSAT deficiency was confirmed when exome sequencing identified biallelic mutations in PSAT1; c.44C>T, p.Ala15Val and; c.432delA, p.Pro144fs and biochemical testing noted low plasma serine 22 mcmol/L (normal 83-212 mcmol/L) and low CSF serine 10 mcmol/L (normal 22-61 mcmol/L). Despite oral serine and glycine supplementation at 4 months old the patient showed little neurodevelopmental progress and developed epileptic spasms at 10 months old. Serological testing for TORCH infections was negative. Conclusions: PSAT deficiency should be considered for patients with congenital microcephaly. Although further characterization of MRI findings in other patients is required, microencephaly with simplified gyral pattern could provide imaging clues for this rare metabolic disorder.

Most of the common skeletal dysplasias have some manifestation in the hand. Many have characteristic findings in the hand that lead to the diagnosis. Hand bones are also affected in many systemic hematologic and metabolic conditions. The diagnosis can be clinched on a single hand radiograph if characteristic findings are present. This pictorial essay illustrates characteristic findings of 20 common conditions including bone dysplasias and metabolic and hematologic abnormalities on a single hand radiograph. It also includes some common hand abnormalities without systemic skeletal abnormalities.

The authors reviewed the clinical, laboratory, and imaging data from cases of diarrhea-associated hemolytic uremic syndrome (HUS D+), diagnosed at our institution, from 2001 to 2008. The timing and utility of ultrasonographic features of HUS D+ were analyzed. The aim of the study was to determine factors that could aid in the early diagnosis of this disease. A total of 13 children with HUS D+ were identified out of 23 patients with HUS diagnosed during this time period. Evidence of Escherichia coli 0157:H7 was found in 9 cases (70%). Ultrasound studies were ordered in 10 patients (71%), all of which showed renal sonographic findings compatible with HUS. Ultrasound was performed at a mean of 13 days after onset of the diarrhea. Of note, 2 patients whose ultrasounds were performed at the beginning of their diarrheal illness manifested ultrasonographic features suggestive of HUS when there was only a mild increase in serum creatinine and no decrease in hemoglobin or platelets, suggesting that ultrasonography can identify renal involvement early in the course of the disease before other systemic signs appear. Early renal ultrasound may be a useful adjunct in the initial evaluation in children with bloody diarrhea. Evidence of increased renal echogenicity in a patient with bloody diarrhea could aid in early recognition of HUS when other diagnoses such as intussusceptions are being entertained, potentially allowing early intervention.

Objective To reassess the utility and validity of ultrasound (US) screening in infants with lumbar midline skin stigmata (MSS) that may be associated with tethering of the spinal cord. Study design We conducted a prospective observational study of 254 infants under age 6 months with suspicious dorsal MSS between 2005 and 2007. All infants were examined by US and neurosurgical clinical evaluation, and 50 infants also underwent magnetic resonance imaging (MRI). The US and MRI findings were analyzed for correlation. Associations between the imaging findings and the presence of the low-risk skin lesions simple dimple (113 cases) and deviated gluteal fold (DGF; 44 cases) also were evaluated. Results Analysis of US and MRI results for the cohort of 50 neonates in whom both examinations were performed showed high concordance. The low-risk group of infants with simple dimple and DGF constituted 157 US procedures, 96% of which were of high quality, providing clear visualization of spinal components. None demonstrated any clinically significant pathological findings. Conclusions Our data reaffirm the reliability of US as a screening tool for tethered cord syndrome. Infants with low-risk lesions, such as simple dimple and DGF, may be absolved from US screening, because these findings alone do not indicate underlying pathological lesions. We propose a simplified diagnostic classification system for MSS.

The pituitary gland can demonstrate a variety of pathologies with different clinical presentations. Amongst them, pituitary abscess is a rare infectious disease for which contrast-enhanced MRI aids the diagnostic pathway. We present a 16-year-old girl with imaging and surgical findings consistent with primary pituitary abscess.

Rationale and Objectives The aim of this study was to systematically review the quality of papers on the clinimetric properties of magnetic resonance imaging for the diagnosis of juvenile idiopathic arthritis in peripheral joints. Materials and Methods A review of Medline, EMBASE, the Database of Abstracts of Reviews of Effects, and the Cochrane Library was performed by using a systematic search strategy. Two independent reviewers evaluated selected articles by using Standards for Reporting of Diagnostic Accuracy (STARD) and Quality Assessment of Diagnostic Accuracy Studies (QUADAS) tools. Items were reported independently for STARD and QUADAS. Results Eighteen studies (validity, n = 18; reliability, n = 3; responsiveness, n = 3) were included. Their overall quality of reporting of methods was fair. Methodological problems with the STARD system included a lack of reporting of exclusion criteria (n = 14), partial or no information on operators' expertise (n = 14) or blinding (n = 18), and deficient information on study time frames (n = 12), treatments (n = 10), or indeterminate results (n = 18). The distribution of QUADAS scores was heterogeneous, with overall scores ranging between 3.5 (poor) and 16.5 (excellent) (maximum score, 17.5). Conclusions The quality of reporting of methods in studies on the magnetic resonance imaging assessment of juvenile idiopathic arthritis is heterogeneous and fair overall. Further methodological refinement of research design should be sought in future studies to provide stronger evidence for the value of novel techniques in clinical settings.

OBJECTIVE. Our objective was to semiquantitatively evaluate the diagnostic accuracy of MRI for evaluation of synovium and cartilage of peripheral joints in juvenile idiopathic arthritis (JIA) according to the levels of evidence and recommendations of the Canadian Task Force on Periodic Health Examination guidelines.CONCLUSION. Articles were screened using MEDLINE, EMBASE, DARE, and the Cochrane Library. Two independent reviewers assessed whether the currently available MRI techniques are accurate for diagnosis of synovial hypertrophy and cartilage degeneration in children with JIA. Overall, there is fair (grade B) strength of evidence that MRI is an accurate diagnostic method for evaluating synovium and cartilage and for assessing clinical responsiveness to treatment in peripheral joints in JIA.

OBJECTIVE. The purpose of this article is to present the imaging findings of skeletal and brain abnormalities in thanatophoric dwarfism, a lethal form of dysplastic dwarfism.CONCLUSION. The bony abnormalities associated with thanatophoric dwarfism include marked shortening of the tubular bones and ribs. Abnormal temporal lobe development is a common associated feature and can be visualized as early as the second trimester. It is important to assess the brains of fetuses with suspected thanatophoric dwarfism because the presence of associated brain malformations can assist in the antenatal diagnosis of thanatophoric dwarfism.

The diastrophic dysplasia family of osteochondrodysplasias comprises a spectrum of skeletal diseases characterized by abnormal growth and remodelling of cartilage and bone. They are caused by mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene. Different defects in this gene product give rise to the variety of phenotypes based on the level of residual transport capacity. We reported a case of a fetus with this spectrum, evaluated and diagnosed with fetal MRI.

Importance Lateral ankle injuries without radiographic evidence of a fracture are a common pediatric injury. These children are often presumed to have a Salter-Harris type I fracture of the distal fibula (SH1DF) and managed with immobilization and orthopedic follow-up. However, previous small studies suggest that these injuries may represent ankle sprains rather than growth plate fractures. Objectives To determine the frequency of SH1DF using magnetic resonance imaging (MRI) and compare the functional recovery of children with fractures identified by MRI vs those with isolated ligament injuries. Design, Setting, and Participants A prospective cohort study was conducted between September 2012 and August 2014 at 2 tertiary care pediatric emergency departments. We screened 271 skeletally immature children aged 5 to 12 years with a clinically suspected SH1DF; 170 were eligible and 140 consented to participate. Interventions Children underwent MRI of both ankles within 1 week of injury. Children were managed with a removable brace and allowed to return to activities as tolerated. Main Outcomes and Measures The proportion with MRI-confirmed SH1DF. A secondary outcome included the Activity Scale for Kids score at 1 month. Results Of the 135 children who underwent ankle MRI, 4 (3.0%; 95% CI, 0.1%-5.9%) demonstrated MRI-confirmed SH1DF, and 2 of these were partial growth plate injuries. Also, 108 children (80.0%) had ligament injuries and 27 (22.0%) had isolated bone contusions. Of the 108 ligament injuries, 73 (67.6%) were intermediate to high-grade injuries, 38 of which were associated with radiographically occult fibular avulsion fractures. At 1 month, the mean (SD) Activity Scale for Kids score of children with MRI-detected fibular fractures (82.0% [17.2%]) was not significantly different from those without fractures (85.8% [12.5%]) (mean difference, −3.8%; 95% CI, −1.7% to 9.2%). Conclusions and Relevance Salter-Harris I fractures of the distal fibula are rare in children with radiograph fracture–negative lateral ankle injuries. These children most commonly have ligament injuries (sprains), sometimes associated with radiographically occult avulsion fractures. Children with fractures detectable only by MRI had a comparable recovery with those with sprains when treated with a removable ankle brace and self-regulated return to activities. This work has the potential to simplify the care of these common injuries, safely minimizing the inconveniences and costs of overtreatment.

The brain has a remarkable capacity for reorganization following injury, especially during the first years of life. Knowledge of structural reorganization and its consequences following perinatal injury is sparse. Here we studied changes in brain tissue volume, morphology, perfusion, and integrity in children with hemiplegia compared to typically developing children, using MRI. Children with hemiplegia demonstrated reduced total cerebral volume, with increased cerebrospinal fluid (CSF) and reduced total white matter volumes, with no differences in total gray matter volume, compared to typically developing children. An increase in cortical thickness at the hemisphere contralateral to the lesion (CLH) was detected in motor and language areas, which may reflect compensation for the gray matter loss in the lesion area or retention of ipsilateral pathways. In addition, reduced cortical thickness, perfusion, and surface area were detected in limbic areas. Increased CSF volume and precentral cortical thickness and reduced white matter volume were correlated with worse motor performance. Brain reorganization of the gray matter within the CLH, while not necessarily indicating better outcome, is suggested as a response to neuronal deficits following injury early in life. Guy’s and St Thomas’ Charity and the Marnie Kimelman Trust

A new task force on postmortem imaging was established at the annual meeting of the European Society of Paediatric Radiology (ESPR) in Graz, Austria, in 2015. The postmortem task force is separate from the child abuse task force as it covers all aspects of fetal, neonatal and non-forensic postmortem imaging. The main focus of the task force is the guidance and standardization of non-radiographic postmortem imaging, particularly postmortem CT and postmortem MRI. This manuscript outlines the starting point of the task force, with a mission statement, outline of current experience, and short- and long-term goals.

The objective of our study was to characterize benign lesions showing increased 18F-FDG uptake and to determine their incidence on whole-body FDG PET/CT performed in oncologic patients. In addition, the performance of PET alone and PET/CT in characterizing lesions as benign was compared.A retrospective review of 1,134 consecutive reports of PET/CT studies performed in patients with proven or suspected malignancy over a 6-month period yielded 289 patients with 313 lesions that showed increased FDG uptake but were suspected to be benign (nonphysiologic) or indeterminate. Lesions were subjectively categorized on the basis of the intensity of FDG uptake (mild, moderate, or marked) as compared with background activity. For each lesion, a decision was made as to whether a benign diagnosis could be obtained by the CT part of the study, the PET pattern, or clinical correlation, or whether histologic sampling was necessary. The performance of PET alone and PET/CT for characterizing lesions as benign was compared. Two hundred twenty-nine of the lesions were assessed further: 210 were benign and 19, malignant. The final diagnosis was determined by pathology (n = 67), PET/CT follow-up (n = 58), correlative imaging (n = 59), clinical correlation (n = 32), or typical benign pattern on PET/CT (n = 13).The causes for benign uptake of FDG were inflammatory processes (n = 154, 73.3%), benign tumors (n = 23, 11%), hematoma or seroma (n = 17, 8.1%), fracture (n = 7, 3.3%), fat necrosis (n = 3, 1.4%), and others (n = 6, 2.9%). For lesions with moderate or marked uptake of FDG (n = 117, 55.7%), a benign diagnosis could have been suggested on either PET or CT (e.g., a "hot" osteophyte) in 33 lesions (28.2%), on CT alone (e.g., peritoneal fat necrosis) in 38 lesions (32.5%), on PET alone (e.g., sialadenitis) in 10 lesions (8.5%), or by clinical correlation (e.g., dental abscess) in four lesions (3.4%). A benign diagnosis could not be established without histology (e.g., colonic polyp) in 32 lesions (27.4%). The performance of PET/CT was superior to that of PET alone in characterizing lesions as benign (p0.001).Benign lesions with increased FDG uptake are found in more than 25% of the PET/CT studies performed in patients with proven or suspected malignancy, with inflammation being the most common cause. Lesion characterization on the CT portion of the PET/CT study increases the specificity of PET/CT reporting, especially for lesions with moderate or marked FDG uptake.

Summary: Aims: Abnormal cortical development will lead to abnormal axons in white matter. The purpose was to investigate (1) the microstructural changes in subcortical white matter adjacent to malformations of cortical development (MCD) and (2) the deep white matter tracts using diffusion tensor imaging (DTI). Methods: Thirteen children with a variety of MCD were recruited. The fractional anisotropy (FA), trace, and eigenvalues (λmajor, λmedium, λminor) of subcortical white matter of MCD were compared with contralateral normal side. The deep white matter tracts were graded based on the size, color hues and displacement of the tracts as visualized on color vector maps and tractography; grade 1 was normal tract size and color hue, grade 2 was reduced tract size but preserved color hue and grade 3 was loss of color hue or failure of tracking on tractography. Results: The subcortical white matter adjacent to abnormal cortex demonstrated reduced FA (p 0.05). Twelve cases demonstrated alteration in white matter tracts. Seven cases of focal cortical dysplasia and two cases of transmantle MCD demonstrated grade 3 pattern of white matter tract. Conclusion: Reduced FA is a sensitive but nonspecific marker of alteration in microstructure of white matter. The elevated λmedium and λminor may reflect a dominant effect of abnormal myelin. Alteration in white matter tracts was observed in most cases of MCD.

Segmental spinal dysgenesis (SSD) is a rare congenital spinal abnormality characterized by segmental dysgenesis or agenesis of the thoracolumbar or lumbar spine, congenital kyphosis, and abnormal configuration of the underlying spinal cord. A unique feature of SSD is that the vertebrae are present above and below the defect, and there is often a lower cord segment in the caudal spinal canal. We report a fetal MRI case of SSD with postmortem and neuropathological correlations. Our report confirms already published findings including the presence of a neurenteric cyst but is the first to document anterior spinal artery segmental agenesis in SSD.

F18-fluorodeoxyglucose (FDG)-positron emission tomography (PET) studies have clinical value in suspected recurrent or metastatic colorectal cancer cases. Because this modality is not accessible for many patients, a camera-based FDG (CB-FDG) coincidence imaging was suggested as an alternative. Although inferior in resolution to a dedicated PET system, it can make FDG studies available to more patients. We assessed the clinical value of CB-FDG in patients with recurrent colorectal cancer.The disease stage and treatment approach in 83 patients were twice determined by an oncologist and a surgeon, first based on the patient's records and blind to CB-FDG findings and then with the inclusion of FDG results in the decision-making analysis.On a lesion-based analysis, the sensitivity of CB-FDG was 95% and the specificity was 81% compared with 88% and 64%, respectively, for computed tomography. Adding FDG findings led to disease-stage alteration in 47 patients (57%), upstaging in 35 (42%), and downstaging in 12 (15%). FDG localized the tumor sites in 21 of 26 patients (81%) with suspected clinical recurrence and a negative conventional imaging workup. In 8 patients, FDG ruled out viable tumor tissue suggested by other modalities. The oncologist's suggested treatment approach was altered in 54% of the patients and the surgeon altered the decision on operability in 28%.CB-FDG assessment has clinical value for both staging and selecting treatment in patients with recurrent colorectal cancer and can be considered an alternative to an nonaccessible dedicated PET system.

Wandering spleen is an extremely rare condition in which the spleen is lacking its normal ligamentous attachments and therefore can move to an ectopic position in the abdomen or pelvis. Wandering spleen predisposes the patient to life-threatening complications due to torsion of the spleen's vascular pedicle, with resulting splenic infarction, portal hypertension, and bleeding. Because of the nonspecific symptoms, imaging plays an important role. To our knowledge, only a few case reports describing wandering spleen in the pediatric population have been published, including 2 cases in infancy. We report a case of splenic torsion in an infant with a preoperative diagnosis made on the basis of color and power Doppler sonography. The diagnosis was confirmed by contrast-enhanced helical computed tomography (CT) and proved at surgery. On sonography, a diffusely hypoechoic spleen and a mass at the splenic hilum representing the torsed splenic pedicle were shown. The splenic hilar mass correlates with the CT "whirl" sign indicative of torsion.

Aim To review the long-term clinical and imaging follow-up of eight children with histopathologically proven childhood primary central nervous system angiitis (cPACNS). Materials and methods Eight children (5–17 years, five female and three male patients) with biopsy-proven cPACNS vasculitis were reviewed retrospectively. All children were followed at the Children's Hospital of Eastern Ontario. Magnetic resonance imaging (MRI) images of the brain parenchyma and vessel pattern of the arteries of the circle of Willis were reviewed at baseline and follow-up(s). All MRI images were correlated with clinical and histopathological findings. Results Seven (87.5%) children demonstrated parenchymal abnormalities: five of the seven (71.4%) presented with non-haemorrhagic lesions, one (14.3%) presented with a parenchymal bleed, and one (14.3%) showed diffuse oedema. One child remained negative for brain parenchymal abnormality at baseline and follow-up. Of the seven children with a parenchymal abnormality, parenchymal enhancement was seen in two (28.5%) and leptomeningeal enhancement was seen in one child. Only two children had positive diffusion-weighted imaging (DWI) restriction at baseline. Five of the seven children (71.4%) showed no magnetic resonance angiography (MRA) abnormalities at baseline. In one, MRA detected complete absence of flow. Follow-up MRA (24–74 months) demonstrated that five of the seven (71.4%) children had progressive paucity of the peripheral vascularity. Two children (28.5%) with shorter-term follow-up (7 and 13 months) did not demonstrate MRA changes. Conclusion Long-term follow-up MRA demonstrated progressive paucity of peripheral vessels, which could be secondary to the inflammation affecting the peripheral vasculature causing reduction in vessel lumen size beyond the resolution of the maximum intensity projection (MIP) reconstruction.

Our aim was to test the feasibility of blood oxygen level dependent magnetic resonance imaging (BOLD MRI) and dynamic contrast-enhanced (DCE) MRI to monitor periarticular hypoxic/inflammatory changes over time in a juvenile rabbit model of arthritis. We examined arthritic and contralateral nonarthritic knees of 21 juvenile rabbits at baseline and days 1,14, and 28 after induction of arthritis by unilateral intra-articular injection of carrageenin with BOLD and DCE MRI at 1.5 Tesla (T). Nine noninjected rabbits served as controls. Associations between BOLD and DCE-MRI and corresponding intra-articular oxygen pressure (PO2) and blood flow [blood perfusion units (BPU)] (polarographic probes, reference standards) or clinical–histological data were measured by correlation coefficients. Percentage BOLD MRI change obtained in contralateral knees correlated moderately with BPU on day 0 (r = −0.51, p = 0.02) and excellently on day 28 (r = −0.84, p = 0.03). A moderate correlation was observed between peak enhancement DCE MRI (day 1) and BPU measurements in arthritic knees (r = 0.49, p = 0.04). In acute arthritis, BOLD and DCE MRI highly correlated (r = 0.89, p = 0.04; r = 1.0, p

Anna Catherine Gunz,1 Karen Choong,2 Murray Potter,3 Elka Miller4 1Division of Critical Care, Department of Pediatrics, University of Ottawa, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada; 2Department of Pediatrics, 3Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada; 4Diagnostic Imaging Department, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada Abstract: The urea-cycle functions to facilitate ammonia excretion, a disruption of which results in the accumulation of toxic metabolites. The neurological outcome of neonatal-onset urea-cycle defects (UCDs) is poor, and there are no good predictors of prognosis beyond ammonia levels at presentation. The role of neuroimaging in the prognosis of neonatal-onset UCDs is unclear. We describe the magnetic resonance imaging (MRI) findings of two patients with neonatal-onset UCDs (argininosuccinic aciduria and citrullinemia) at presentation and at 2-year follow-up, and present a review of the literature on neuroimaging in this age-group. We observed two potentially significant distinct patterns of cerebral involvement on MRI: (1) a central and focal pattern of involvement limited to the basal ganglia, perirolandic regions, and internal capsule; and (2) diffuse involvement of the cerebral cortex, internal capsule, basal ganglia, and variably thalami and brain stem. Patients with more diffuse findings tended to have higher serum glutamine peaks and worse neurological outcomes, while those with central involvement, aggressive acute management, and early liver transplantation tended to have better outcomes. We propose that MRI imaging of the brain may have prognostic value following presentation with neonatal UCDs, particularly in identifying patients at risk for poor outcome. The role and timing of follow-up neuroimaging is currently unclear. Further collaborative studies are necessary to evaluate whether patterns of MRI findings vary with specific UCD subtypes, and are predictive of clinical outcomes in neonatal UCDs. Keywords: hyperammonemia, amino acid metabolism, inborn error, metabolism, inborn errors, infant, newborn, magnetic resonance imaging

Infants with phosphomannomutase 2 – congenital disorder of glycosylation (PMM2-CDG), formerly known as CDG1a, present with failure to thrive, visceral dysfunction, thromboembolic events and developmental delays noted before 6 months of age. Diagnosis is often delayed due to the considerable variability in phenotype. Characteristic, but not universal, features include inverted nipples and abnormal subcutaneous fat pads. Neuroimaging performed in the first 4 months of life may be normal, although cerebellar and brainstem atrophy is usual after 3 months of age. Cerebellar and brainstem atrophy have been noted as early as 11 days of life. We present an infant whose typical subcutaneous and retroperitoneal fat deposits were clinically occult, but identified on body MRI.

Magnetic Resonance Spectroscopy (MRS) enables us to assess the metabolic changes in the brain of patients with epilepsy. Therefore it can provide complementary information to structural imaging. Structural MRI plays an important role in identifying the underlying epileptogenic substrate responsible for epilepsy. MRS identifies metabolic changes in the epileptogenic brain, which could be used to lateralize seizure focus, detect bilateral brain abnormalities such as bilateral temporal lobe epilepsy, identify the metabolic abnormalities in the epileptic brain, assess metabolic abnormalities in the epileptogenic zone that appears normal on structural MRI, predict surgical outcome, and improve our understanding of the pathophysiology of epileptogenic substrate.

Fast-brain MRI is a promising technique for young children who require anesthesia for conventional MRI; however, poor contrast resolution and the use of one type of pulse sequence only has limitations. We aimed to review and document pitfalls of fast-brain MRI in non-sedated children. Fifty fast-brain MRI studies (Fast Imaging Employing sTeady State Acquistion [FIESTA] protocol; 1.5-Tesla Signa Excite HD, GE HealthCare, Milwaukee, WI, USA) performed between January 2008 and August 2010 in 30 non-sedated patients aged 1 day to 5 years of age (mean: 18 months) were reviewed retrospectively and compared to the most recent MRI or CT scan. The indications were: ventriculoperitoneal (VP) shunt insertion or revision or follow-up (20/50, 40%), postoperative follow-up (9/50, 18%), macrocephaly, ventriculomegaly or congenital malformation (15/50, 30%), complications of prematurity (6/50, 12%). The VP shunt position and size of fluid-filled structures were satisfactorily assessed in all patients. Undetected findings in 7/50 studies (14%) were: venous sinus thrombosis (one patient), subdural hematoma (three), failure to differentiate blood products (two), and limited evaluation of extra-axial collections (one). FIESTA fast-brain MRI provides satisfactory assessment of shunt position and the size of fluid-filled structures, but radiologists should be aware of limitations for depiction of venous sinus thrombosis, and bleeding. Modification of fast-brain protocols appears to be indicated.

Objectives: Tissue signal change caused by temperature-dependent alterations in the affinity of oxygen for hemoglobin contributes to BOLD contrast. Our goals were to test whether BOLD MRI contrast changes with short-term variations in joint temperature (internal responsiveness) and to determine whether an association exists between BOLD MRI and intraarticular pO2 and blood flow [reference standards] upon joint temperature changes (external responsiveness). Methods: Seven juvenile rabbits had the carrageenin (antigen)-injected knee imaged, 10 had the contralateral knee imaged and 11 had one of non-injection knees imaged. Assigned knees underwent experimentally forced increased (37°-42°C) or decreased (37°- 30°C) local temperature for 15-minute periods using heating/cooling pads and were subsequently imaged. Intra-articular pO2 and blood flow were measured in vivo during MRI scanning by polarographic probes. Results: Relative BOLD MRI measurements showed moderate (≤0.8 and >0.5) or large (>0.8) Standardized Response Mean (SRM) changes upon increased local temperature in contralateral knees. Significant substantial correlations were obtained between absolute BOLD MRI measurements and intraarticular pO2 measurements in contralateral knees (r = 0.71, P = 0.048) upon increased local temperature and high correlations were obtained in arthritic knees (r = 0.92, P = 0.004) upon decreased local temperature. Conclusions: BOLD MRI was responsive to short-term joint temperature changes. Imaging contralateral joints in addition to arthritic joints with BOLD MRI may help maximize identification of minimal early changes in subjects with arthritis if findings of this study are confirmed in larger sample size experiments.

Skeletal dysplasias are a complex group of disorders that are characterized by generalized abnormalities of the development of the skeletal growth. The majority of them result from a mutated gene. The bony presentation is characterized by abnormal growth of the limbs, absence of a limb, duplication of fingers or toes, or many other different bone abnormalities. They occur in approximately 1 in 4,000 births and the mode of inheritance is variable, either sporadic (not inherited) or hereditary (recessive or dominant). The understanding of these dysplasias can guide the family for a better genetic council in pregnancy and in future family planning. Thanatophoric dysplasia (TD) is the most common of the lethal skeletal dysplasias, caused by different mutations of fibroblast growth factor receptor 3 (FGFR3) gene. It is one of the short-limb dysplasia and has been classified into two different types, type I and type II, that have a diverse range of phenotypes and genotypes, with the most common difference being the presence of cloverleaf skull in TD type II. Early diagnosis, ideally in utero, is critical because the condition leads to death in utero or shortly after birth. The purpose of this review is to describe the clinical, radiologic, pathologic, and molecular features of TD and newer advances in the different fields that involve this entity.

Mutations in ACTA2 (smooth muscle cell-specific isoform of α-actin) lead to a predisposition to thoracic aortic aneurysms and other vascular diseases. More recently, the ACTA2 R179H mutation has been described in individuals with global smooth muscle dysfunction. We report a patient heterozygous for the mutation in ACTA2 R179H who presented with megacystis at 13 weeks gestational age and, at birth, with prune-belly sequence. He also had deep skin dimples and creases on his palms and soles, a finding not previously described but possibly related to ACTA2. To our knowledge, this is the first report of the R179H mutation in ACTA2 in a child with prune-belly sequence. We think the R179H mutation in ACTA2 should be included in the differential diagnosis of individuals presenting with the sequence without an identified mechanical obstruction. Furthermore, as ACTA2 R179H has been reported in patients with severe vasculomyopathy and premature death, we recommend that molecular testing for this mutation be considered in fetuses presenting with fetal megacystis with a normal karyotype, particularly if the bladder diameter is 15 mm or more, to allow expectant parents to make an informed decision.

The rate of brain abnormalities in asymptomatic term neonates varies substantially in previous studies. Some of these rates may justify general screening of healthy newborns by head ultrasound (HUS).To assess the incidence of intracranial abnormalities among asymptomatic term newborns with HUS and to detect high-risk populations that might need such screening.This was a prospective study in 493 term newborns who underwent HUS and a neurological evaluation during the first 3 days of life. The neurological examination results were unknown to the sonographist and the examiner was blinded to the HUS findings. The abnormal HUS findings were classified as significant or non-significant according to the current literature.Abnormal HUS was found in 11.2% of the neonates. Significant findings were noted in 3.8% of the infants. There was no association between non-structural HUS findings (hemorrhage or echogenicity) and mode of delivery. There was no relationship between any HUS abnormality and birth weight, head circumference and maternal age, ethnicity, education or morbidity. The rate of abnormal neurological, hearing or vision evaluation in infants with a significant abnormal HUS (5.2%) was comparable to the rate in infants with normal or non-significant findings on HUS (3.1%).There is no indication for routine HUS screening in apparently healthy term neonates due to the relatively low incidence of significant brain abnormalities in these infants in our population.

A 14-year-old boy presented with 12 months of bilateralfoot weakness and paraesthesia. His exam revealed are-flexia, distal muscle weakness and decreased pinprick andvibration sense to his fingers and below mid-thigh level.Cranial nerves were intact. Nerve conduction studiesidentified a demyelinating polyneuropathy with dispersionand conduction block. Spinal fluid protein was elevated.MRI revealed cranial nerve, cervical (Fig. 1), thoracic andlumbosacral nerve root hypertrophy (Fig. 2). He recoveredwell with monthly intravenous immunoglobulin.Chronic inflammatory demyelinating polyradiculoneur-opathy (CIDP) is associated with clinical evidence ofcranial nerve dysfunction in about 15% of those affected.MRI may reveal cranial nerve hypertrophy and enhance-ment even without clinical deficit [1]. MR evidence ofspinal root hypertrophy occurs in 60% of adult patients,typically those with long disease duration [2]. Rootthickening may be seen in paediatric CIDP but, unlike thatin our patient, is generally mild.References

Pelizaeus–Merzbacher disease (PMD) is a rare dysmyelination disorder, characterized by significant developmental delay, truncal hypotonia, spasticity, dysarthria, and nystagmus. Conventional magnetic resonance (MR) images demonstrate discordance of myelin maturation, while newer MR techniques, such as MR spectroscopy and diffusion tensor imaging, may be helpful in disease assessment. We report on a family of two young boys and their mother who share the same unusual 4-bp deletion of the PLP1 gene: c51_54 del TTCC, causing truncation of the PLP1 in exon 2. The brain MRI appearances in this unique deletion, using newer MR imaging, are described. © 2010 Wiley-Liss, Inc.

■ Plain radiographs are the standard imaging tools for the diagnosis of JIA; however, they show low sensitivity (50%) and moderate specificity (85%) for detection of cartilage destruction (strong evidence).