(What's the story) morning glory? MRI findings in morning glory disc anomaly.

PURPOSE: Morning glory disc anomaly (MGDA) is a rare congenital ophthalmologic disorder. Historically it has been diagnosed fundoscopically, with little in the literature regarding its imaging findings. The purpose of this study is to further characterize the orbital and associated intracranial magnetic resonance imaging (MRI) findings of MGDA in our tertiary pediatric center. METHODS: A retrospective review was performed of fundoscopically-diagnosed cases of MGDA, that had been referred for MRI. All MRI studies were scrutinized for orbital and other intracranial abnormalities known to occur in association with MGDA. RESULTS: 18 of 19 cases of MGDA showed three characteristic MRI findings: funnel-shaped morphology of the posterior optic disc, abnormal soft tissue associated with the retrobulbar optic nerve, and effacement of adjacent subarachnoid spaces. The ipsilateral (intraorbital) optic nerve was larger in one patient and smaller in six. The ipsilateral optic chiasm was larger in two patients and smaller in one. CONCLUSION: This study represents a comprehensive radiological-led investigation into MGDA. It describes the most frequently-encountered MRI findings in MGDA and emphasizes the importance of MRI in this cohort, i.e., in distinguishing MGDA from other posterior globe abnormalities, in assessing the visual pathway, and in screening for associated intracranial abnormalities - skull base/cerebral, vascular, and facial. It hypothesizes neurocristopathy as an underlying cause of MGDA and its associations. Caliber abnormalities of the ipsilateral optic nerve and chiasm are a frequent finding in MGDA. Optic pathway enlargement should not be labeled "glioma". (239/250).

Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders.

Primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders (MCPH-SCKS) include a heterogeneous group of autosomal recessive inherited diseases characterized by primary (congenital) microcephaly, the absence of visceral abnormalities, and a variable degree of cognitive impairment, short stature and facial dysmorphism. Recently, biallelic variants in the nuclear pore complex (NPC) component nucleoporin 85 gene (NUP85) were reported to cause steroid-resistant nephrotic syndrome (SRNS). Here, we report biallelic variants in NUP85 in two pedigrees with an MCPH-SCKS phenotype spectrum without SRNS, thereby expanding the phenotypic spectrum of NUP85-linked diseases. Structural analysis predicts the identified NUP85 variants cause conformational changes that could have an effect on NPC architecture or on its interaction with other NUPs. We show that mutant NUP85 is, however, associated with a reduced number of NPCs but unaltered nucleocytoplasmic compartmentalization, abnormal mitotic spindle morphology, and decreased cell viability and proliferation in one patient's cells. Our results also indicate the link of common cellular mechanisms involved in MCPH-SCKS spectrum disorders and NUP85-associated diseases. In addition to the previous studies, our results broaden the phenotypic spectrum of NUP85-linked human disease and propose a role for NUP85 in nervous system development.

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.

Multi-suture craniosynostosis in c.1570C>T (p.Arg524Trp) mutated TRAF7: a case report.

Craniosynostosis is a condition of premature fusion of the cranial sutures. Multi-suture craniosynostosis has been found to be associated with a number of syndromes and underlying gene mutations. Tumour necrosis factor receptor-associated factors (TRAFs) are a family of adaptor proteins interacting with cell surface receptors or other signalling molecules. TRAF7 is one of the factors involved in multiple biologic processes, including ubiquitination, myogenesis and toll-like receptor signalling. Here, we report a child who presented with multi-suture craniosynostosis and had the uncommon c.1570C>T (p.Arg524Trp) variant of TRAF7.

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.

Monogenetic Stroke Syndromes in Children and Young Adults.

OBJECTIVE. The purpose of this article is to review the characteristic CT and MRI findings associated with monogenetic causes of ischemic and hemorrhagic stroke in children and young adults. CONCLUSION. Ischemic and hemorrhagic stroke in children and young adults remains a common cause of acquired disability but is underrecognized. Brain parenchymal and vascular imaging is commonly performed as part of the comprehensive evaluation of young patients presenting with stroke. Familiarity with these patterns of disease enables early recognition of an underlying inherited condition.

Infant peripherally inserted central catheter insertion without general anesthesia.

BACKGROUND: Avoiding anesthesia for infant peripherally inserted central catheter insertion beyond the neonatal period has been the subject of very little research despite this being a high-risk age group. In our institution, we introduced a "Fast, Feed, and Wrap" technique, previously described for magnetic resonance imaging scans, for infants up to 6 months and weighing under 5.5 kg undergoing peripherally inserted central catheter insertion. AIMS: The aim was to report our experience using "Fast, Feed, and Wrap," in particular the success rate and proportion of qualifying infants who were managed this way. METHODS: A retrospective study was undertaken using electronic records and case notes to determine patient age, weight, indication for procedure, anesthetic technique (general anesthesia or "Fast, Feed, and Wrap"), peripherally inserted central catheter details (site of insertion, gauge, and number of lumens), and length of procedure. RESULTS: Fifty-one infants qualified for "Fast, Feed, and Wrap" over a 42-month period, 43 were attempted this way and 40 were successful. All infants were greater than 40 weeks postconceptual age at the time of peripherally inserted central catheter insertion under "Fast, Feed, and Wrap," though 26% were preterm. The average age of babies undergoing "Fast, Feed, and Wrap" was 35 days (IQR 18-55), and the median weight was 3.78 kg (IQR 3.48-4.77). CONCLUSIONS: Infants younger than 6 months and under 5.5 kg can be managed without general anesthesia for peripherally inserted central catheter insertion using a Fast, Feed, and Wrap technique.

The Effect of Fronto-Orbital Advancement on Frontal Sinus Development and Function in Non-Syndromic and Syndromic Craniosynostosis.

The impact of fronto-orbital advancement (FOA) on frontal sinus development and function is anecdotally variable. The aim of this study was to assess the impact of FOA on development of frontal sinuses, and additionally to identify the complications that might arise out of such procedures. This was a retrospective case-control study. Non-syndromic and syndromic craniosynostosis patients (n = 58) who underwent FOA at an early age and also had a skull radiograph or CT scan after the age of 12 were selected. Age matched trauma patients with CT scans done beyond 12 years of age were used as controls. Age at first FOA surgery, total number of procedures and age at imaging was noted. Presence or absence of frontal sinuses was assessed using imaging studies initially. Patients with a formed frontal sinus and a CT scan were further chosen for volumetric studies. Complications related to frontal sinus and secondary surgeries were recorded. One of 27 non-syndromic patients had absent frontal sinuses. Seven of 31 syndromic patients had absent sinuses. Among 20 controls, only 1 patient did not develop frontal sinuses. The mean age at first FOA was 11.81 months and 18.25 months for non-syndromic and syndromic groups, respectively. The average number of procedures before 12 years of age was 1.25 and 1.51 for non-syndromic and syndromic patients, respectively. The mean age at imaging was 17.74, 20.96, and 20.25 years for non-syndromic, syndromic and control groups, respectively. The mean frontal sinus volumes were 13050.36, 15039.02, and 8459.48 mm for non-syndromic, syndromic and control groups, respectively. In conclusion, FOA does not seem to have an impact on rate of pneumatization in the background of similar rates in the non-syndromic and control groups. The low pneumatization rate in syndromic group might be a virtue of the disease itself. There were significant frontal sinus complications that occurred after fronto orbital advancement and this should be borne in mind during the surgical consenting process.

Imaging of temporal bone inflammations in children: a pictorial review.

PURPOSE: Understanding the underlying pathophysiology and the patterns of disease spread is crucial in accurate image interpretation. In this pictorial review, the common and important inflammatory processes of the temporal bone in children will be discussed, and key computed tomography (CT) and magnetic resonance imaging (MRI) features described. METHODS: Inflammatory processes are categorized by anatomical location: the petrous apex and the inner, middle and outer ear. A complete review of the literature is provided. RESULTS: Cholesteatoma, cholesterol granuloma and mucoceles are inflammatory processes that occur across the anatomical subsites of the temporal bone, whilst site-specific inflammatory processes include labyrinthitis ossificans in the inner ear and keratosis obturans in the external ear. Infection is a key cause of inflammation in the temporal bone, and specific infections include petrous apicitis, otitis media and necrotizing otitis externa. Finally, important mimics and do-not-touch lesions are considered. CT and MRI are complementary in assessing these disorders, as two of the most important diagnostic clues are the presence of bone erosion, best appreciated on CT, and true diffusion restriction as seen on MRI. Flow charts to assist in the diagnosis of paediatric temporal bone inflammatory disease are also provided. CONCLUSION: Paediatric temporal bone inflammatory processes are common and can have severe clinical sequelae. Timely intervention, facilitated by correct radiological diagnosis, can often prevent progression of disease, loss of hearing and systemic illness.

Joint European Society of Paediatric Radiology (ESPR) and International Society for Forensic Radiology and Imaging (ISFRI) guidelines: paediatric postmortem computed tomography imaging protocol.

Postmortem CT for investigating childhood deaths is increasingly utilised as a noninvasive adjunct or alternative to standard autopsy; however there are no standardised published imaging protocols. This article describes a standardised imaging protocol that has been developed based on current practices of international postmortem imaging practitioners and experts. This recommendation is expected to be useful for postmortem imaging centres wishing to update their existing practices and for those starting paediatric postmortem CT as a new service.

ESPR postmortem imaging task force: where we begin.

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.

Diagnostic Ultrasound for Acute Appendicitis: The Gold Standard.

BACKGROUND: Acute appendicitis may present a diagnostic dilemma. The aim of this study was to review the accuracy of ultrasound in the diagnosis of paediatric acute appendicitis. METHOD: Ultrasound studies performed for investigation of appendicitis during 2015-2021 were retrieved from a tertiary paediatric hospital database and reviewed. Medical records were reviewed to determine operative intervention, further imaging, and final diagnosis. Diagnostic accuracy was assessed by sensitivity, specificity, predictivity, and overall accuracy. All appendicectomy specimens underwent histopathological confirmation. This study was approved by the local Human Research Ethics Committee. RESULTS: A total of 8555 consecutive ultrasound examinations were performed during the study period. Mean patient age was 10.8 years ( ± 3.7). Overall diagnostic accuracy was 96.1% (8221/8555) with a visualisation rate of 91.0%. Sensitivity and specificity were 96.2% (CI 95.3-97.0%) and 96.1% (CI 95.6-96.5%), respectively. When limited to positive/negative scans, sensitivity was 99.6% (CI 99.2-99.8%) and specificity 99.0% (CI 98.7-99.3%). Positive and negative predictive values were 96.9% and 99.9%, respectively. Repeat ultrasound following a non-diagnostic scan led to a definitive diagnosis in 76.1%. Negative appendicectomy rate was 5.5% overall in children who had undergone pre-operative ultrasound (107/1938), and 4.4% when other surgical pathologies were excluded. CONCLUSION: Ultrasound examination provides gold-standard accuracy in the diagnosis of paediatric appendicitis and reduces rates of negative appendicectomy. Given the disadvantages of computed tomography and magnetic resonance imaging, ultrasound should be considered the first-line investigation of choice in the diagnosis of acute appendicitis in children. LEVEL OF EVIDENCE: III.

Neuroimaging of Ocular Abnormalities in Children.

In this article, we will discuss the essential MR imaging protocol required for the assessment of ocular abnormalities including malignancies. Then we will describe relevant anatomy, ocular embryogenesis, and genetics to establish a profound understanding of pathophysiology of the congenital ocular malformations. Finally, we will discuss pediatric ocular malignancies, benign mimics, and the most common congenital ocular malformations with case examples and illustrations and give tips on how to distinguish these entities on neuroimaging.

Ultrasound guided hydrostatic enema reduction of ileocolic intussusception: a safe and effective technique.

BACKGROUND: Currently, the primary management of ileocolic intussusception in children is usually by non-operative image-guided enema reduction. In most centres around the world especially in Australasia the predominant technique is the pneumatic reduction under fluoroscopic guidance. At our institution, we have been performing ultrasound-guided hydrostatic reduction since 2012.This is an audit to determine the efficacy and safety of ultrasound-guided hydrostatic reduction for intussusception. METHODS: Following ethics approval, a retrospective review of all patients presenting to our institution with intussusception and subsequently undergoing hydrostatic reduction over a period of 9 years (2012 to-2020) was performed. The parameters studied included (i) successful reduction, (ii) recurrence, (iii) need for surgery and (iv) lead point at surgery. RESULTS: The mean age at presentation was 12 months. One hundred and eight children were diagnosed to have ileocolic intussusception. One hundred and six underwent ultrasound-guided hydrostatic reduction with successful reduction in 96 (90.5%) patients. Reduction was unsuccessful in 10 patients (9.5%). Of these eight were noted to have a pathological lead point (four-Meckel's diverticulum and four-Lymphoma) at the time of the surgery. The intussusception recurred in six patients (6.25%) within 24 h. No reduction related perforation occurred during the study period. CONCLUSION: Ultrasound-guided hydrostatic reduction is a safe and effective technique for managing intussusception as it allows continuous monitoring of the reduction of the intussusception without exposing the children to ionizing radiation.

Neuroimaging Findings in Axenfeld-Rieger Syndrome: A Case Series.

Axenfeld-Rieger syndrome is an autosomal dominant condition associated with multisystemic features including developmental anomalies of the anterior segment of the eye. Single nucleotide and copy number variants in the paired-like homeodomain transcription factor 2 (PITX2) and forkhead box C1 (FOXC1) genes are associated with Axenfeld-Rieger syndrome as well as other CNS malformations. We determined the association between Axenfeld-Rieger syndrome and specific brain MR imaging neuroradiologic anomalies in cases with or without a genetic diagnosis. This case series included 8 individuals with pathogenic variants in FOXC1; 2, in PITX2; and 2 without a genetic diagnosis. The most common observation was vertebrobasilar artery dolichoectasia, with 46% prevalence. Other prevalent abnormalities included WM hyperintensities, cerebellar hypoplasia, and ventriculomegaly. Vertebrobasilar artery dolichoectasia and absent/hypoplastic olfactory bulbs were reported in >50% of individuals with FOXC1 variants compared with 0% of PITX2 variants. Notwithstanding the small sample size, neuroimaging abnormalities were more prevalent in individuals with FOXC1 variants compared those with PITX2 variants.