Reduced gyrification in fetal growth restriction with prenatal magnetic resonance images.

Placental-related fetal growth restriction, resulting from placental dysfunction, impacts 3-5% of pregnancies and is linked to elevated risk of adverse neurodevelopmental outcomes. In response, the fetus employs a mechanism known as brain-sparing, redirecting blood flow to the cerebral circuit, for adequate supply to the brain. In this study we aimed to quantitatively evaluate disparities in gyrification and brain volumes among fetal growth restriction, small for gestational age and appropriate-for gestational-age fetuses. Additionally, we compared fetal growth restriction fetuses with and without brain-sparing. The study encompassed 106 fetuses: 35 fetal growth restriction (14 with and 21 without brain-sparing), 8 small for gestational age, and 63 appropriate for gestational age. Gyrification, supratentorial, and infratentorial brain volumes were automatically computed from T2-weighted magnetic resonance images, following semi-automatic brain segmentation. Fetal growth restriction fetuses exhibited significantly reduced gyrification and brain volumes compared to appropriate for gestational age (P < 0.001). Small for gestational age fetuses displayed significantly reduced gyrification (P = 0.038) and smaller supratentorial volume (P < 0.001) compared to appropriate for gestational age. Moreover, fetal growth restriction fetuses with BS demonstrated reduced gyrification compared to those without BS (P = 0.04), with no significant differences observed in brain volumes. These findings demonstrate that brain development is affected in fetuses with fetal growth restriction, more severely than in small for gestational age, and support the concept that vasodilatation of the fetal middle cerebral artery reflects more severe hypoxemia, affecting brain development.

Deep learning-based segmentation of whole-body fetal MRI and fetal weight estimation: assessing performance, repeatability, and reproducibility.

OBJECTIVES: To develop a deep-learning method for whole-body fetal segmentation based on MRI; to assess the method's repeatability, reproducibility, and accuracy; to create an MRI-based normal fetal weight growth chart; and to assess the sensitivity to detect fetuses with growth restriction (FGR). METHODS: Retrospective data of 348 fetuses with gestational age (GA) of 19-39 weeks were included: 249 normal appropriate for GA (AGA), 19 FGR, and 80 Other (having various imaging abnormalities). A fetal whole-body segmentation model with a quality estimation module was developed and evaluated in 169 cases. The method was evaluated for its repeatability (repeated scans within the same scanner, n = 22), reproducibility (different scanners, n = 6), and accuracy (compared with birth weight, n = 7). A normal MRI-based growth chart was derived. RESULTS: The method achieved a Dice = 0.973, absolute volume difference ratio (VDR) = 1.8% and VDR mean difference = 0.75% ([Formula: see text]: - 3.95%, 5.46), and high agreement with the gold standard. The method achieved a repeatability coefficient = 4.01%, ICC = 0.99, high reproducibility with a mean difference = 2.21% ([Formula: see text]: - 1.92%, 6.35%), and high accuracy with a mean difference between estimated fetal weight (EFW) and birth weight of - 0.39% ([Formula: see text]: - 8.23%, 7.45%). A normal growth chart (n = 246) was consistent with four ultrasound charts. EFW based on MRI correctly predicted birth-weight percentiles for all 18 fetuses ≤ 10thpercentile and for 14 out of 17 FGR fetuses below the 3rd percentile. Six fetuses referred to MRI as AGA were found to be < 3rd percentile. CONCLUSIONS: The proposed method for automatic MRI-based EFW demonstrated high performance and sensitivity to identify FGR fetuses. CLINICAL RELEVANCE STATEMENT: Results from this study support the use of the automatic fetal weight estimation method based on MRI for the assessment of fetal development and to detect fetuses at risk for growth restriction. KEY POINTS: • An AI-based segmentation method with a quality assessment module for fetal weight estimation based on MRI was developed, achieving high repeatability, reproducibility, and accuracy. • An MRI-based fetal weight growth chart constructed from a large cohort of normal and appropriate gestational-age fetuses is proposed. • The method showed a high sensitivity for the diagnosis of small fetuses suspected of growth restriction.

Imaging Review of Pediatric Monogenic CNS Vasculopathy with Genetic Correlation.

Monogenic cerebral vasculopathy is a rare but progressively recognizable cause of pediatric cerebral vasculopathy manifesting as early as fetal life. These monogenic cerebral vasculopathies can be silent or manifest variably as fetal or neonatal distress, neurologic deficit, developmental delay, cerebral palsy, seizures, or stroke. The radiologic findings can be nonspecific, but the presence of disease-specific cerebral and extracerebral imaging features can point to a diagnosis and guide genetic testing, allowing targeted treatment. The authors review the existing literature describing the frequently encountered and rare monogenic cerebral vascular disorders affecting young patients and describe the relevant pathogenesis, with an attempt to categorize them based on the defective step in vascular homeostasis and/or signaling pathways and characteristic cerebrovascular imaging findings. The authors also highlight the role of imaging and a dedicated imaging protocol in identification of distinct cerebral and extracerebral findings crucial in the diagnostic algorithm and selection of genetic testing. Early and precise recognition of these entities allows timely intervention, preventing or delaying complications and thereby improving quality of life. It is also imperative to identify the specific pathogenic variant and pattern of inheritance for satisfactory genetic counseling and care of at-risk family members. Last, the authors present an image-based approach to these young-onset monogenic cerebral vasculopathies that is guided by the size and predominant radiologic characteristics of the affected vessel with reasonable overlap. ©RSNA, 2024 Test Your Knowledge questions for this article are available in the supplemental material.

Associations and outcomes of prenatally detected rhombencephalosynapsis.

OBJECTIVE: To describe the association between prenatal imaging and neurodevelopmental outcomes of fetuses with rhombencephalosynapsis (RES). STUDY DESIGN: Thirty-four pregnancies complicated by RES were identified from our institutional databases based on US and/or MRI findings. Genetic testing results were gathered. In cases of termination of pregnancy, we studied the association between prenatal imaging and neuropathologic findings. For those who opted for expectant management, comprehensive developmental assessments and postnatal MRI imaging were evaluated. RESULTS: Over one third of fetuses in our cohort had complete RES. Common intracranial anomalies identified were mesencephalosynapsis, aqueduct stenosis and diencephalosynapsis. The degree of RES was not associated with the frequency of additional central nervous system anomalies. MRI had a good correlation with neuropathologic findings with regard to the degree of RES, aqueduct stenosis and mesencephalosynapsis. Postmortem autopsy showed that one third of our cases had VACTERL-H and almost all of those had complete RES. All liveborn neonates(n = 6) had aqueduct stenosis requiring ventriculoperitoneal shunting within days of delivery (median 5 days). While a large proportion of prenatally suspected complete RES were found to have partial RES on postnatal imaging, prenatal diagnosis of aqueduct stenosis remained unchanged. All children that were at least 2 years old (n = 3) had global developmental delay. CONCLUSION: Prenatal assessment of the RES severity is challenging and may be unreliable. Nevertheless, postnatal prognosis is poor for both complete and partial RES. Associated aqueductal stenosis, can be reliably assessed prenatally and this may contribute to worse postnatal prognosis than the degree of RES.

CT contrast extravasation in children: a single-center experience and systematic review.

BACKGROUND: Extravasation of iodinated contrast material during computed tomography (CT) is a rare complication. A few patients may develop severe complications such as compartment syndrome. OBJECTIVE: The purpose of this study was to retrospectively assess the prevalence, severity, management, and outcome of contrast extravasations in our institution and to perform a comparison to what has been reported in the existing literature. MATERIALS AND METHODS: This is a research ethics board (REB)-approved retrospective study comprising 11 patients who had intravenous contrast-enhanced CT between 2019 and 2022 in a tertiary pediatric center, and experienced extravasation of iodinated contrast as a complication. Age, weight, sex, co-morbidities, angiocatheter size, venous access location, total contrast volume, flow rate, patient's symptoms, severity of injury, and management were collected. For the systematic review, PRISMA guidelines were followed. RESULTS: Only 11 (0.3%) (0.17-0.54 (95%CI)) contrast extravasations occurred in a total of 3638 CTs performed with intravenous contrast during the same period in children. The median age (IQR) was 12.5 (10.0, 15.0) years. In our cohort, 1/11 patients developed compartment syndrome and required fasciotomy. The systematic review assessed 12 articles representing a population of 110 children with extravasations. Pooled prevalence from articles stratified by age was 0.32% (0.06-0.58% (95%CI)). Only three children experienced moderate to severe complications. CONCLUSIONS: We confirm that severe complications of contrast extravasation are rare and can occur at any age. No strong associations were seen with the need for surgical consultation (including age, sex, weight, flow rate, injection site, catheter size, and type of contrast).

Increasing Diversity in Canadian Radiology: From the Hiring Process to Needed Active Retention Efforts.

The Canadian Association of Radiologists supports equity, diversity, and inclusion (EDI) in employment. It is imperative that institutions implement recruitment and retention practices to ensure a diverse workforce. This requires considerable attention to each step in the process, including the job posting, candidate search, hiring committee composition, interviews, hiring decision, and retention and promotion. Job postings must be widely distributed and visible to underrepresented groups. The candidate search should be completed by a diverse committee with expertise in EDI. All committee members must complete EDI and anti-bias training and conduct a broad search that ensures underrepresented groups are encouraged to apply. Interviews must be offered to all candidates. The hiring decision must avoid the use of subjective criteria. Recruitment of members of underrepresented groups ensures a diverse workforce, and organizations should commit resources to the retention and promotion of these members. Mentorship programs must be implemented and incentives provided to faculty members to serve as mentors. Transparent guidelines for promotion made universally available on department or institution websites. Recruiting a diverse workforce in Medical Imaging will only be achieved if EDI are central to the organization's goals and strategic plan. All organizational policies, practices, and procedures must be reviewed with an intersectional lens to identify potential gaps, areas for improvement, and areas of strength in the recruitment and retention of members of underrepresented groups.

Further characterization of CEP85L-associated lissencephaly type 10: Report of a three-generation family and review of the literature.

Lissencephaly type 10 is a recently reported condition characterized by posterior predominant abnormalities in gyration with associated seizures, developmental delays or intellectual disability. We report a boy who presented at 5 years of age with epilepsy and developmental delays. His family history was notable for epilepsy in two prior generations associated with variable developmental and cognitive impact. Exome sequencing identified a novel missense variant in CEP85L [NM_001042475.2; c.196A>G, p.(Thr66Ala)] which segregated in four affected family members across three generations. Brain imaging of the proband demonstrated a posterior lissencephaly pattern with pachygyria, while other affected family members demonstrated a similar subcortical band heterotopia. This report expands the phenotypic spectrum of this rare disorder by describing a novel variant in CEP85L in a family with variable clinical and neuroimaging findings.

Improved differentiation between hypo/hypertelorism and normal fetuses based on MRI using automatic ocular biometric measurements, ocular ratios, and machine learning multi-parametric classification.

OBJECTIVES: To differentiate hypo-/hypertelorism (abnormal) from normal fetuses using automatic biometric measurements and machine learning (ML) classification based on MRI. METHODS: MRI data of normal (n = 244) and abnormal (n = 52) fetuses of 22-40 weeks' gestational age (GA), scanned between March 2008 and June 2020 on 1.5/3T systems with various T2-weighted sequences and image resolutions, were included. A fully automatic method including deep learning and geometric algorithms was developed to measure the binocular (BOD), inter-ocular (IOD), ocular (OD) diameters, and ocular volume (OV). Two new parameters, BOD-ratio and IOD-ratio, were defined as the ratio between BOD/IOD relative to the sum of both globes' OD, respectively. Eight ML classifiers were evaluated to detect abnormalities using measured and computed parameters. RESULTS: The automatic method yielded a mean difference of BOD = 0.70 mm, IOD = 0.81 mm, OD = 1.00 mm, and a 3D-Dice score of OV = 93.7%. In normal fetuses, all four measurements increased with GA. Constant values were detected for BOD-ratio = 1.56 ± 0.05 and IOD-ratio = 0.60 ± 0.05 across all GA and when calculated from previously published reference data of both MRI and ultrasound. A random forest classifier yielded the best results on an independent test set (n = 58): AUC-ROC = 0.941 and F1-Score = 0.711 in comparison to AUC-ROC = 0.650 and F1-Score = 0.385 achieved based on the accepted criteria that define hypo/hypertelorism based on IOD (< 5th or > 95th percentiles). Using the explainable ML method, the two computed ratios were found as the most contributing parameters. CONCLUSIONS: The developed fully automatic method demonstrates high performance on varied clinical imaging data. The new BOD and IOD ratios and ML multi-parametric classifier are suggested to improve the differentiation of hypo-/hypertelorism from normal fetuses. KEY POINTS: • A fully automatic method for computing fetal ocular biometry from MRI is proposed, achieving high performance, comparable to that of an expert fetal neuro-radiologist. • Two new parameters, IOD-ratio and BOD-ratio, are proposed for routine clinical use in ultrasound and MRI. These two ratios are constant across gestational age in normal fetuses, consistent across studies, and differentiate between fetuses with and without hypo/hypertelorism. • Multi-parametric machine learning classification based on automatic measurements and the two new ratios improves the identification of fetal ocular anomalies beyond the accepted criteria (<5th or >95th IOD percentiles).

Current utilization of pediatric postmortem imaging in North America: a questionnaire-based survey.

BACKGROUND: Postmortem imaging is used more widely as the number of conventional autopsies has decreased over the last several decades. It is widely accepted in Europe, Asia and Oceania, but there has been a delay in acceptance in North America. Education, scanning protocols, resourcing and clinical incentives are needed to support this emerging field. OBJECTIVE: To determine the use of postmortem imaging and define perceived barriers to its implementation with the goal of expanding postmortem imaging in the United States and Canada. MATERIALS AND METHODS: We sent an online survey to active members of the Society for Pediatric Radiology (SPR) addressing the use of postmortem imaging, indications, readers, practical aspects, anticipated barriers and potential solutions to more widespread use. RESULTS: More than 50% of the 50 institutions that returned surveys used postmortem computed tomography; 24% used postmortem magnetic resonance imaging. Most postmortem imaging cases were read by radiologists. Fewer than 50% had formal correlation with autopsy results or an established relationship with the local medical examiner. Seven institutions reported reimbursement for postmortem imaging. Major barriers to postmortem imaging included lack of funding and lack of interest among clinicians. Funding and education were seen as important issues requiring attention. CONCLUSION: While most responding institutions provide pediatric postmortem imaging, the modalities, protocols, reporting procedures and clinical correlation vary widely. A lack of funding and few opportunities for education are limiting factors. Attention to these issues along with active support from the SPR are seen as potential solutions to recognize the value and promote widespread acceptance of postmortem imaging.

Current and future funding streams for paediatric postmortem imaging: European Society of Paediatric Radiology survey results.

BACKGROUND: Perinatal and childhood postmortem imaging has been accepted as a noninvasive alternative or adjunct to autopsy. However, the variation in funding models from institution to institution is a major factor prohibiting uniform provision of this service. OBJECTIVE: To describe current funding models employed in European and non-European institutions offering paediatric postmortem imaging services and to discuss the perceived barriers to future postmortem imaging service provision. MATERIALS AND METHODS: A web-based 16-question survey was distributed to members of the European Society of Paediatric Radiology (ESPR) and ESPR postmortem imaging task force over a 6-month period (March-August 2021). Survey questions related to the radiologic and autopsy services being offered and how each was funded within the respondent's institute. RESULTS: Eighteen individual responses were received (13/18, 72.2% from Europe). Only one-third of the institutions (6/18, 33.3%) have fully funded postmortem imaging services, with the remainder receiving partial (6/18, 33.3%) or no funding (5/18, 27.8%). Funding (full or partial) was more commonly available for forensic work (13/18, 72%), particularly where this was nationally provided. Where funding was not provided, the imaging and reporting costs were absorbed by the institute. CONCLUSION: Increased access is required for the expansion of postmortem imaging into routine clinical use. This can only be achieved with formal funding on a national level, potentially through health care commissioning and acknowledgement by health care policy makers and pathology services of the value the service provides following the death of a fetus or child. Funding should include the costs involved in training, equipment, reporting and image acquisition.

Recommendations for Improvement of Equity, Diversity, and Inclusion in the CaRMs Selection Process.

Equity, diversity and inclusion (EDI) in the medical field is crucial for meeting the healthcare needs of a progressively diverse society. A diverse physician workforce enables culturally sensitive care, promotes health equity, and enhances the comprehension of the various needs and viewpoints of patients, ultimately resulting in more effective treatments and improved patient outcomes. However, despite the recognized benefits of diversity in the medical field, certain specialties, such as Radiology, have struggled to achieve adequate equity, diversity and inclusion, which results in a discrepancy in the demographics of Canadian radiologists and the patients we serve. In this review, we propose strategies from a committee within the Canadian Association of Radiologists (CAR) EDI working group to improve EDI in the CaRMS selection process. By adopting these strategies, residency programs can foster a more diverse and inclusive environment that is better positioned to address the health needs of a progressively diverse patient population, leading to improved patient outcomes, greater patient satisfaction, and advancements in medical innovation.

Promoting Equity, Diversity, and Inclusion in Medicine: A Comprehensive Toolkit for Change in Radiology.

This toolkit presents a comprehensive framework for a toolkit intended to increase equity, diversity, and inclusion (EDI) within the medical field and recommendations. We advocate for clear, comprehensive definitions and interpretations of fundamental EDI terms, laying the groundwork necessary for initiating and maintaining EDI initiatives. Furthermore, we offer a systematic approach to establishing EDI committees within medical departments, accentuating the pivotal role these committees play as they drive and steer EDI strategies. This toolkit also explores strategies tailored for the recruitment of a diverse workforce. This includes integral aspects such as developing inclusive job advertisements, implementing balanced search methods for candidates, conducting unbiased appraisals of applications, and structuring diverse hiring committees. The emphasis on these strategies not only augments the diversity within medical institutions but also sets the stage for a more holistic approach to healthcare delivery. Therefore, by adopting the recommended strategies and guidelines outlined in this framework, medical institutions and specifically radiology departments can foster an environment that embodies inclusivity and equity, thereby enhancing the quality of patient care and overall health outcomes.

Is Oral Contrast Beneficial for Visualization of the Appendix in Low-Weight Children?

Purpose: It has been shown that oral contrast does not improve the diagnostic accuracy of Computed Tomography (CT) for appendicitis in pediatric patients; however, the cohorts in these studies were not stratified by weight or body mass index. The purpose of this study is to assess the benefit of oral contrast administration for identifying the appendix in younger children in the lower weight quartile. Materials and Methods: This retrospective study comprised 100 patients (2-10 years) in lower weight quartile who had intravenous contrast-enhanced CT of the abdomen and pelvis, 37 of which with oral contrast, and 63 without. A pediatric radiologist and a pediatric radiology fellow independently assessed whether the appendix was visualized or not. In case of discrepancy, an additional pediatric radiologist was the "tie-breaker." Chi-squared test was used to compare the proportion of visualized appendix between the groups (with and without oral contrast). Inter-rater reliability was determined using Cohen's Kappa coefficient. Results: There was no significant difference in the visualization of the appendix between the group with oral contrast and without (P = 1). The Cohen Kappa coefficients were .33 (.05, .62) and .91 (.73, 1.00) for the "no oral" and "oral" groups, respectively, yielding evidence of a difference (P = .007). Conclusions: There was no significant difference in the visualization of the appendix using CT with or without oral contrast in low-weight pediatric patients. The inter-rater reliability, however, was significantly higher in the group given oral contrast. Additional studies assessing the value of oral contrast for the sole indication of appendicitis may provide clearer results.

Pediatric Petrous Apex Lesions: A Radiological Classification and Diagnostic Algorithm.

The petrous apex (PA) is involved in a myriad of pathological conditions, some of which are exclusive in children. Diagnosis may be difficult due to vague clinical presentation, and local examination is challenging owing to its inaccessible location. This is further complicated by multiple unfused sutures and ongoing PA pneumatization in children. Cross-sectional imaging is vital for the evaluation of the PA lesions, due to their precarious location and proximity to the major neurovascular structures. Several classification systems have been proposed for these lesions based on their site of origin, solid or cystic appearance, surgical or non-surgical (no touch lesions) management, and benign or malignant nature. In this article, we emphasize the distinctive role of different cross-sectional imaging modalities in the diagnosis of pediatric PA lesions, with special attention to normal variants that should not be mistaken for pathology. We also propose a radiological classification and algorithmic approach to aid in the precise diagnosis and facilitate appropriate management of the various PA lesions in children.

Whole-body MRI versus an [18F]FDG-PET/CT-based reference standard for early response assessment and restaging of paediatric Hodgkin's lymphoma: a prospective multicentre study.

OBJECTIVES: To compare WB-MRI with an [18F]FDG-PET/CT-based reference for early response assessment and restaging in children with Hodgkin's lymphoma (HL). METHODS: Fifty-one children (ages 10-17) with HL were included in this prospective, multicentre study. All participants underwent WB-MRI and [18F]FDG-PET/CT at early response assessment. Thirteen of the 51 patients also underwent both WB-MRI and [18F]FDG-PET/CT at restaging. Two radiologists independently evaluated all WB-MR images in two separate readings: without and with DWI. The [18F]FDG-PET/CT examinations were evaluated by a nuclear medicine physician. An expert panel assessed all discrepancies between WB-MRI and [18F]FDG-PET/CT to derive the [18F]FDG-PET/CT-based reference standard. Inter-observer agreement for WB-MRI was calculated using kappa statistics. Concordance, PPV, NPV, sensitivity and specificity for a correct assessment of the response between WB-MRI and the reference standard were calculated for both nodal and extra-nodal disease presence and total response evaluation. RESULTS: Inter-observer agreement of WB-MRI including DWI between both readers was moderate (κ 0.46-0.60). For early response assessment, WB-MRI DWI agreed with the reference standard in 33/51 patients (65%, 95% CI 51-77%) versus 15/51 (29%, 95% CI 19-43%) for WB-MRI without DWI. For restaging, WB-MRI including DWI agreed with the reference standard in 9/13 patients (69%, 95% CI 42-87%) versus 5/13 patients (38%, 95% CI 18-64%) for WB-MRI without DWI. CONCLUSIONS: The addition of DWI to the WB-MRI protocol in early response assessment and restaging of paediatric HL improved agreement with the [18F]FDG-PET/CT-based reference standard. However, WB-MRI remained discordant in 30% of the patients compared to standard imaging for assessing residual disease presence. KEY POINTS: • Inter-observer agreement of WB-MRI including DWI between both readers was moderate for (early) response assessment of paediatric Hodgkin's lymphoma. • The addition of DWI to the WB-MRI protocol in early response assessment and restaging of paediatric Hodgkin's lymphoma improved agreement with the [18F]FDG-PET/CT-based reference standard. • WB-MRI including DWI agreed with the reference standard in respectively 65% and 69% of the patients for early response assessment and restaging.

Whole-body MRI versus an FDG-PET/CT-based reference standard for staging of paediatric Hodgkin lymphoma: a prospective multicentre study.

OBJECTIVES: To assess the concordance of whole-body MRI (WB-MRI) and an FDG-PET/CT-based reference standard for the initial staging in children with Hodgkin lymphoma (HL) METHODS: Children with newly diagnosed HL were included in this prospective, multicentre, international study and underwent WB-MRI and FDG-PET/CT at staging. Two radiologists and a nuclear medicine physician independently evaluated all images. Discrepancies between WB-MRI and FDG-PET/CT were assessed by an expert panel. All FDG-PET/CT errors were corrected to derive the FDG-PET/CT-based reference standard. The expert panel corrected all reader errors in the WB-MRI DWI dataset to form the intrinsic MRI data. Inter-observer agreement for WB-MRI DWI was calculated using overall agreement, specific agreements and kappa statistics. Concordance for correct classification of all disease sites and disease stage between WB-MRI (without DWI, with DWI and intrinsic WB-MRI DWI) and the reference standard was calculated as primary outcome. Secondary outcomes included positive predictive value, negative predictive value and kappa statistics. Clustering within patients was accounted for using a mixed-effect logistic regression model with random intercepts and a multilevel kappa analysis. RESULTS: Sixty-eight children were included. Inter-observer agreement between WB-MRI DWI readers was good for disease stage (κ = 0.74). WB-MRI DWI agreed with the FDG-PET/CT-based reference standard for determining disease stage in 96% of the patients versus 88% for WB-MRI without DWI. Agreement between WB-MRI DWI and the reference standard was excellent for both nodal (98%) and extra-nodal (100%) staging. CONCLUSIONS: WB-MRI DWI showed excellent agreement with the FDG-PET/CT-based reference standard. The addition of DWI to the WB-MRI protocol improved the staging agreement. KEY POINTS: • This study showed excellent agreement between WB-MRI DWI and an FDG-PET/CT-based reference standard for staging paediatric HL. • Diffusion-weighted imaging is a useful addition to WB-MRI in staging paediatric HL. • Inter-observer agreement for WB-MRI DWI was good for both nodal and extra-nodal staging and determining disease stage.

Current state of perinatal postmortem magnetic resonance imaging: European Society of Paediatric Radiology questionnaire-based survey and recommendations.

BACKGROUND: Postmortem magnetic resonance imaging (MRI) in perinatal and childhood deaths is increasingly used as a noninvasive adjunct or alternative to autopsy. Imaging protocols vary between centres and consensus guidelines do not exist. OBJECTIVE: Our aim was to develop practical, standardised recommendations for perinatal postmortem MRI. MATERIALS AND METHODS: Recommendations were based on the results of two surveys regarding local postmortem MRI practices sent electronically to all 14 members of the European Society of Paediatric Radiology (ESPR) Postmortem Imaging Task Force and 17 members of the International Society of Forensic Radiology and Imaging Task Force (25 different centres). RESULTS: Overall, 11/14 (78.6%) respondents from different institutions perform postmortem MRI. All of these centres perform postmortem MRI for perinatal and neonatal deaths, but only 6/11 (54.5%) perform imaging in older children. CONCLUSION: We propose a clinical standard for postmortem MRI sequences plus optional sequences for neuroimaging and cardiac anatomy depending on available scanning time and referral indications.

Whole-Body Diffusion-Weighted MRI Compared to 18 FFDG PET/CT in Initial Staging and Therapy Response Assessment of Hodgkin Lymphoma in Pediatric Patients.

PURPOSE: The aim of our study was to compare whole-body diffusion-weighted MRI (WB-DWI-MRI) to fluoro-2-deoxyglucose positron emission tomography/computed tomography (FDG-PET/CT) in the assessment of initial staging and treatment response in pediatric patients with Hodgkin lymphoma. MATERIALS AND METHODS: This prospective study comprised 11 children with Hodgkin lymphoma. Whole-body DWI-MRI and FDG-PET/CT were obtained at baseline and after 2 cycles of chemotherapy. Two radiologists measured the apparent diffusion coefficient (ADC) values of the sites of involvement agreed upon in consensus and 1 nuclear medicine physician assessed the PET/CT. Reliability of radiologists' ratings was assessed by intraclass correlation coefficients (ICC2,1). The sensitivity and positive predictive value (PPV) of DW-MRI relative to PET/CT were calculated for nodal and extranodal sites. The patients were staged according to both modalities. Association of treatment responses was assessed through the Pearson correlation between the ADC ratios and the change standardized uptake value (SUV) between baseline and follow-up. RESULTS: There was good agreement between the raters for nodal and extranodal ADC measurements. The sensitivity and PPV of DW-MRI relative to PET/CT of nodal disease was 0.651 and 1.0, respectively, at baseline, and 0.697 and 0.885 at follow-up. The sensitivity and PPV of extranodal disease were 0.545 and 0.6 at baseline, and 0.167 and 0.333 at follow-up. Diffusion-weighted MRI determined correct tumor stage in 8 of 11 examinations. There was poor correlation between the ADC ratios and the absolute change in SUV between baseline and follow-up (0.348). CONCLUSION: Our experience showed that WB-DWI-MRI is inferior to PET/CT for initial staging and assessment of treatment response of Hodgkin lymphoma in pediatric patients.

NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes.

Autosomal dominant Dandy-Walker malformation and occipital cephalocele (ADDWOC) is a rare, congenital, and incompletely penetrant malformation that is considered to be part of the Dandy-Walker spectrum of disorders. Affected individuals often present with an occipital cephalocele with a bony skull defect, but typically have normal neurological development. Here, we report on a three-generation family in which individuals have variable phenotypes that are consistent with the ADDWOC spectrum: arachnoid cysts in the proband and his maternal grandfather, an occipital cephalocele in the proband and his brother, and a small bony defect in the proband's mother. Whole exome sequencing identified a rare heterozygous variant in NID1 (NM_002508.2:c.1162C>T, (p.Gln388Ter)) in the proband, his brother, and his mother. Sanger sequencing confirmed the presence of this variant in the maternal grandfather. The identical c.1162C>T variant was previously identified in variably affected members of a three-generation family with ADDWOC. This case report provides further evidence that variants in NID1 may be clinically relevant for the development of a phenotype that is consistent with ADDWOC, and extends the phenotype of NID1-associated ADDWOC to include arachnoid cysts. Given that the Dandy-Walker malformation itself is not a pre-requisite to this spectrum of phenotypes, we also suggest a novel term for the NID1-associated disorder in order to give emphasis to this phenotypic variability: "Autosomal Dominant Posterior Fossa Anomalies with Occipital Cephaloceles."