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Introduction: Canavan disease (CD) is a rare autosomal recessive neurodegenerative disorder caused by a deficiency of aspartoacylase A, an enzyme that degrades N-acetylaspartate (NAA). The disease is characterized by progressive white matter degeneration, leading to intellectual disability, seizures, and death. This retrospective study aims to describe the full spectrum of magnetic resonance imaging (MRI) findings in a large case series of CD patients. Materials and methods: MRI findings in 18 patients with confirmed CD were investigated, and the full spectrum of brain abnormalities was compared with the existing literature to provide new insights regarding the brain MRI findings in these patients. All the cases were proven based on genetic study or NAA evaluation in urine or brain. Results: Imaging analysis showed involvement of the deep and subcortical white matter as well as the globus pallidus in all cases, with sparing of the putamen, caudate, and claustrum. The study provides updates on the imaging characteristics of CD and validates some underreported findings such as the involvement of the lateral thalamus with sparing of the pulvinar, involvement of the internal capsules and corpus callosum, and cystic formation during disease progression. Conclusion: To our knowledge, this is one of the largest case series of patients with CD which includes a detailed description of the brain MRI findings. The study confirmed many of the previously reported MRI findings but also identified abnormalities that were previously rarely or not described. We speculate that areas of ongoing myelination are particularly vulnerable to changes in CD. [ABSTRACT FROM AUTHOR]

Purpose: Incomplete partition type II (IP-II) is characterized by specific histological features and radiological appearance. It may occur in isolation or in association with an enlarged vestibular aqueduct (EVA). Among those with IP-II and EVA, a subset has a diagnosis of Pendred syndrome. This study aimed to explore the prevalence of isolated IP-II, IP-II with EVA, and cases with a genetic or syndromic basis in our cohort. Methods: From a large, multicentre database of dysplastic cochleae (446 patients, 892 temporal bones), those with imaging features of IP-II were examined in detail, including whether there was a genetic or syndromic association. Results: A total of 78 patients with IP-II were identified. Among these, 55 patients had bilateral IP-II and EVA (only 12 with typical Mondini triad), 8 with bilateral IP-II and normal VA, 2 with bilateral IP-II and unilateral EVA, and 13 with unilateral IP-II (9 with unilateral EVA). Among the group with bilateral IP-II and bilateral EVA in whom genetic analysis was available, 14 out of 29 (48%) had SLC26A4 mutations and a diagnosis of Pendred syndrome, 1 had a FOXI1 mutation, and a few other genetic abnormalities; none had KCNJ10 pathogenic variants. Conclusion: Bilateral IP-II-bilateral EVA may be seen in the context of Pendred syndrome (SLC26A4 or FOXI1 mutations) but, in the majority of our cohort, no genetic abnormalities were found, suggesting the possibility of unknown genetic associations. IP-II in isolation (without EVA) is favored to be genetic when bilateral, although the cause is often unknown. [ABSTRACT FROM AUTHOR]

Objective: Foramen magnum(FM) stenosis can be responsible for acute and chronic damage to the cervicomedullary junction in children with achondroplasia. The bony anatomy and patterns of suture fusion of the FM in this context are incompletely understood, yet becoming increasingly important in the light of novel medical therapies for achondroplasia. The objective of this study was to describe and quantify bony anatomy and fusion patterns of FM stenosis in patients with achondroplasia using CT scans, comparing them to age-matched controls and other FGFR3 craniosynostosis patients. Methods: Patients with achondroplasia and severe FM stenosis, classified as achondroplasia foramen magnum score(AFMS) grades 3 and 4, were identified from a departmental operative database. All had pre-operative CT scans of the craniocervical junction. Measurements obtained comprised sagittal diameter (SD), transverse diameter (TD), foramen magnum area, and opisthion thickness. Anterior and posterior interoccipital synchondroses (AIOS and PIOS) were graded by the extent of fusion. These measurements were then compared with CT scans from 3 age-matched groups: the normal control group, children with Muenke syndrome, and children with Crouzon syndrome with acanthosis nigricans (CSAN). Results: CT scans were reviewed in 23 cases of patients with achondroplasia, 23 normal controls, 20 Muenke, and 15 CSAN. Children with achondroplasia had significantly smaller sagittal diameter (mean 16.2 ± 2.4 mm) compared to other groups (control 31.7 ± 2.4 mm, p < 0.0001; Muenke 31.7 ± 3.5 mm, p < 0.0001; and CSAN 23.1 ± 3.4 mm, p < 0.0001) and transverse diameters (mean 14.3 ± 1.8 mm) compared with other groups (control 26.5 ± 3.2 mm, p < 0.0001; Muenke 24.1 ± 2.6 mm, p < 0.0001; CSAN 19.1 ± 2.6 mm, p < 0.0001). This translated into a surface area which was 3.4 times smaller in the achondroplasia group compared with the control group. The median grade of the AIOS fusion achondroplasia group was 3.0 (IQR 3.0–5.0), which was significantly higher compared with the control group (1.0, IQR 1.0–1.0, p < 0.0001), Muenke group (1.0, IQR 1.0–1.0, p < 0.0001), and CSAN (2.0, IQR 1.0–2.0, p < 0.0002). Median PIOS fusion grade was also highest in the achondroplasia group (5.0, IQR 4.0–5.0) compared with control (1.0, IQR 1.0–1.0, p < 0.0001), Muenke (2.5, IQR 1.3–3.0, p < 0.0001), and CSAN (4.0, IQR 4.0–4.0, p = 0.2). Distinct bony opisthion spurs projecting into the foramen magnum were seen in achondroplasia patients but not others, resulting in characteristic crescent and cloverleaf shapes. Conclusion: Patients with AFMS stages 3 and 4 have significantly reduced FM diameters, with surface area 3.4 times smaller than age-matched controls. This is associated with premature fusion of the AIOS and PIOS in comparison with controls and other FGFR3-related conditions. The presence of thickened opisthion bony spurs contributes to stenosis in achondroplasia. Understanding and quantifying bony changes at the FM of patients with achondroplasia will be important in the future quantitative evaluation of emerging medical therapies. [ABSTRACT FROM AUTHOR]

Imaging plays a crucial role in evaluating paediatric patients with non-traumatic head and neck lesions in an emergency setting because clinical manifestations of these entities can overlap. For this reason, radiologists must be familiar with the clinical and imaging findings of prevalent paediatric head and neck emergencies. In this review, we present techniques and imaging clues for common complications of pathological processes in the paediatric head and neck, with a focus on the clinical scenario as a starting point for the radiologic approach. [ABSTRACT FROM AUTHOR]

The use of standardized imaging protocols is paramount in order to facilitate comparable, reproducible images and, consequently, to optimize patient care. Standardized MR protocols are lacking when studying head and neck pathologies in the pediatric population. We propose an international, multicenter consensus paper focused on providing the best combination of acquisition time/technical requirements and image quality. Distinct protocols for different regions of the head and neck and, in some cases, for specific pathologies or clinical indications are recommended. This white paper is endorsed by several international scientific societies and it is the result of discussion, in consensus, among experts in pediatric head and neck imaging. [ABSTRACT FROM AUTHOR]

Purpose: Low-field (LF) MRI scanners are common in many Low- and middle-Income countries, but they provide images with worse spatial resolution and contrast than high-field (HF) scanners. Image Quality Transfer (IQT) is a machine learning framework to enhance images based on high-quality references that has recently adapted to LF MRI. In this study we aim to assess if it can improve lesion visualisation compared to LF MRI scans in children with epilepsy. Methods: T1-weighted, T2-weighted and FLAIR were acquired from 12 patients (5 to 18 years old, 7 males) with clinical diagnosis of intractable epilepsy on a 0.36T (LF) and a 1.5T scanner (HF). LF images were enhanced with IQT. Seven radiologists blindly evaluated the differentiation between normal grey matter (GM) and white matter (WM) and the extension and definition of epileptogenic lesions in LF, HF and IQT-enhanced images. Results: When images were evaluated independently, GM-WM differentiation scores of IQT outputs were 26% higher, 17% higher and 12% lower than LF for T1, T2 and FLAIR. Lesion definition scores were 8–34% lower than LF, but became 3% higher than LF for FLAIR and T1 when images were seen side by side. Radiologists with expertise at HF scored IQT images higher than those with expertise at LF. Conclusion: IQT generally improved the image quality assessments. Evaluation of pathology on IQT-enhanced images was affected by familiarity with HF/IQT image appearance. These preliminary results show that IQT could have an important impact on neuroradiology practice where HF MRI is not available. [ABSTRACT FROM AUTHOR]

Aim: To identify clinical and radiological predictors of long-term motor outcome after childhood-onset arterial ischemic stroke (AIS) in the middle cerebral artery (MCA) territory.Method: Medical records of 69 children (36 females, 33 males; median age at index AIS 3y 3mo, range: 1mo-16y) who presented to Great Ormond Street Hospital with first AIS in the MCA territory were reviewed retrospectively. Cases were categorized using the Childhood AIS Standardized Classification and Diagnostic Evaluation (CASCADE). Magnetic resonance imaging (MRI) and angiography were evaluated. An Alberta Stroke Program Early Computed Tomography Score (ASPECTS) was calculated on MRI. The Recurrence and Recovery Questionnaire assessed motor outcome and was dichotomized into good/poor.Results: Eventual motor outcome was good in 49 children and poor in 20. There were no acute radiological predictors of eventual motor outcome. At follow-up, CASCADE 3A (i.e. moyamoya) and Wallerian degeneration were significantly associated with poor motor outcome. In the multivariate analysis, younger age and CASCADE 3A predicted poor motor outcome.Interpretation: In the context of recommendations regarding unproven and potentially high-risk hyperacute therapies for childhood AIS, prediction of outcome could usefully contribute to risk/benefit analysis. Unfortunately, paradigms used in adults, such as ASPECTS, are not useful in children in the acute/early subacute phase of AIS. What this paper adds Adult paradigms, such as the Alberta Stroke Program Early Computed Tomography Score system, are not useful for predicting outcome in children. Younger children tend to have a poorer long-term prognosis than older children. Moyamoya is associated with poor prognosis. [ABSTRACT FROM AUTHOR]

This study investigates the hypothesis that there is, during childhood, a disproportionate age‐related expansion of the origin of temporalis muscle compared to the growth of the underlying skull. Lateral projections of 50 randomly selected 3D reformatted computerized tomographic (CT) scans (yielding 100 temporalis muscles) of children aged >0.6 to 15 years scanned for conditions that did not affect the shape of their head or face were windowed to provide the optimum delineation of temporalis muscle against the underlying bone. Vertical and anterior–posterior measurements of the muscle made independently by two observers were compared with those of the skull along the same planes. The development of the anterior temporal crest was also assessed. The intraclass correlation coefficient for differences in the measurements made by each observer ranged from good to excellent. The muscle and skull measurements were used to produce a ratio of muscle‐to‐skull lengths in both vertical and horizontal planes. Analysis of these ratios showed a statistically significant increase in the vertical reach of temporalis with age (Pearson correlation coefficient (R) =0.7826; p < 0.05) compared to the growth of the skull along the planes chosen for the study—but less so for its horizontal reach (R = 0.5073. p <.001). There were no significant differences between right/left or male/female measurements. There was also a substantial level of agreement between both observers in their assessment of the development of the temporal crest. The mean age of children in whom a fully formed temporal crest could be identified (10.6 years) was significantly greater (p < 0.001) than that of the 38 remaining subjects (6.0 years). These results confirm that there is, in response to increased masticatory/dietary demands during childhood, a disproportionate increase in the vertical and (to a lesser extent) horizontal reach of temporalis muscle over its origin from the temporal, frontal, sphenoid, and parietal bones compared the growth of the skull. It is proposed that surgical interference with this normal process is responsible for the soft tissue component of late‐developing deformity that can occur following early (at 6–18 months of age) operations for the correction of trigonocephalic head shape associated with metopic synostosis. [ABSTRACT FROM AUTHOR]

Non-congenital viral infections of the central nervous system in children can represent a severe clinical condition that needs a prompt diagnosis and management. However, the aetiological diagnosis can be challenging because symptoms are often nonspecific and cerebrospinal fluid analysis is not always diagnostic. In this context, neuroimaging represents a helpful tool, even though radiologic patterns sometimes overlap. The purpose of this pictorial essay is to suggest a schematic representation of different radiologic patterns of non-congenital viral encephalomyelitis based on the predominant viral tropism and vulnerability of specific regions: cortical grey matter, deep grey matter, white matter, brainstem, cerebellum and spine. [ABSTRACT FROM AUTHOR]

Salivary gland pathologies in children are frequent, particularly viral infections, but rarely need cross-sectional imaging. However, when a mass involves the salivary spaces (primarily or as a secondary invasion from other neck spaces) it may pose problems in the differential diagnosis and in immediate management. Infrequently, systemic autoimmune diseases can also involve the salivary parenchyma in children and correctly interpreting the constellation of findings in the whole body is critical for the diagnosis. Distinguishing between cystic and solid masses is the first step for radiologists in order to narrow down the diagnosis. Location and spatial extension are the most important elements differentiating cystic masses, while signal characteristics, internal structure and local invasion help in the differential diagnosis of solid masses. [ABSTRACT FROM AUTHOR]

Central nervous system neoplasms are the most common solid tumours that develop in children, with the greatest proportion located in the infratentorium. The 2016 World Health Organization Central Nervous System tumour classification evolved from the 2007 edition with the integration of molecular and genetic profiling into the diagnosis, the addition of new entities and the removal of others. Radiology can assist with the subtyping of tumours from certain characteristics described below to provide prognostic information and guide further management. The latest insights into the radiologic characteristics of these posterior fossa tumours are presented below: medulloblastoma, ependymoma, pilocytic astrocytoma, embryonal tumours with multilayered rosettes, atypical teratoid rhabdoid tumours, diffuse midline glioma and the new entity of diffuse leptomeningeal glioneuronal tumours. [ABSTRACT FROM AUTHOR]

Pediatric brain tumors differ from those in adults by location, phenotype and genotype. In addition, they show dissimilar imaging characteristics before and after treatment. While adult brain tumor treatment effects are primarily assessed on MRI by measuring the contrast-enhancing components in addition to abnormalities on T2-weighted and fluid-attenuated inversion recovery images, these methods cannot be simply extrapolated to pediatric central nervous system tumors. A number of researchers have attempted to solve the problem of tumor assessment during treatment in pediatric neuro-oncology; specifically, the Response Assessment in Pediatric Neuro-Oncology (RAPNO) working group was recently established to deal with the distinct challenges in evaluating treatment-related changes on imaging, but no established criteria are available. In this article we review the current methods to evaluate brain tumor therapy and the numerous challenges that remain. In part 1, we examine the role of T2-weighted imaging and fluid-attenuated inversion recovery sequences, contrast enhancement, volumetrics and diffusion imaging techniques. We pay particular attention to several specific pediatric brain tumors, such as optic pathway glioma, diffuse midline glioma and medulloblastoma. Finally, we review the best means to assess leptomeningeal seeding. [ABSTRACT FROM AUTHOR]

Haemolytic Uraemic Syndrome (HUS) is a rare medical condition characterised by microangiopathic haemolytic anaemia, thrombocytopenia, and acute kidney injury. Neurological complications are documented but rarely involve the cerebellum. We present a unique case of a 23-month-old male with HUS triggered by Escherichia coli-O157 (E.coli-O157) infection leading to an isolated cerebellar stroke. The patient initially presented with fever, bloody stools, and seizures. Confirmation of E.coli-O157 infection was obtained, and MRI revealed an isolated cerebellar stroke. Treatment included supportive care, anticoagulation for a right atrial thrombus, with gradual improvement observed. This case highlights the unusual occurrence of isolated cerebellar stroke in HUS patients, emphasising the importance of promptly recognizing manifestations of the central nervous system and the necessity for a multidisciplinary approach. Finally, a comprehensive literature review was conducted to identify cases of HUS patients with cerebellar involvement. [ABSTRACT FROM AUTHOR]

Despite the decline in mortality rates over the last 20 years, cancer remains one of the leading causes of death in children worldwide. Early recognition and treatment for acute oncological emergencies are vital in preventing mortality and poor outcomes, such as irreversible end-organ damage and a compromised quality of life. Imaging plays a pivotal and adjunctive role to clinical examination, and a high level of interpretative acumen by the radiologist can make the difference between life and death. In contrast to adults, the most accessible cross-sectional imaging tool in children typically involves ultrasound. The excellent soft tissue differentiation allows for careful delineation of malignant masses and along with colour Doppler imaging, thromboses and large haematomas can be easily identified. Neurological imaging, particularly in older children is an exception. Here, computed tomography (CT) is required for acute intracranial pathologies, with magnetic resonance imaging (MRI) providing more definitive results later. This review is divided into a 'body systems' format covering a range of pathologies including neurological complications (brainstem herniation, hydrocephalus, spinal cord compression), thoracic complications (airway obstruction, superior vena cava syndrome, cardiac tamponade), intra-abdominal complications (bowel obstruction and perforation, hydronephrosis, abdominal compartment syndrome) and haematological-related emergencies (thrombosis, infection, massive haemorrhage). Within each subsection, we highlight pertinent clinical and imaging considerations. The overall objective of this pictorial review is to illustrate how primary childhood malignancies may present with life-threatening complications, and emphasise the need for imminent patient management. [ABSTRACT FROM AUTHOR]

Purpose: To describe the most appropriate techniques and suggested protocols meant to address the various scenarios that clinicians and pediatric neurosurgeons may face in their day-to-day practice connected with Chiari I. Methods: Current literature related to image indications and findings in Chiari I has been reviewed. The authors focused on both standard and advanced techniques for clinical diagnosis and preoperative planning purposes. Discussion and conclusion: The complexity of providing neuroimaging guidelines for children investigated for Chiari I lies in defining the most appropriate neuroradiology tool to approach what is in fact a very heterogeneous condition with different etiopathogenetic mechanisms and associated abnormalities. Other variables that may influence the diagnostic strategy include the age of the patient, the presence of additional pathological conditions, the type of presenting symptoms, and the indication for surgical or conservative management. Although the average age at time of diagnosis is 10 years, the initial diagnosis may be done at any age, and the referral for neuroradiology workup may come from general practitioners/pediatricians, orthopedic surgeons, and endocrinologists following various baseline investigations including plain x-rays of skull and spine and/or CT head and/or MRI brain and spine. [ABSTRACT FROM AUTHOR]

Despite the decline in mortality rates over the last 20 years, cancer remains one of the leading causes of death in children worldwide. Early recognition and treatment for acute oncological emergencies are vital in preventing mortality and poor outcomes, such as irreversible end-organ damage and a compromised quality of life. Imaging plays a pivotal and adjunctive role to clinical examination, and a high level of interpretative acumen by the radiologist can make the difference between life and death. In contrast to adults, the most accessible cross-sectional imaging tool in children typically involves ultrasound. The excellent soft tissue differentiation allows for careful delineation of malignant masses and along with colour Doppler imaging, thromboses and large haematomas can be easily identified. Neurological imaging, particularly in older children is an exception. Here, computed tomography (CT) is required for acute intracranial pathologies, with magnetic resonance imaging (MRI) providing more definitive results later. This review is divided into a 'body systems' format covering a range of pathologies including neurological complications (brainstem herniation, hydrocephalus, spinal cord compression), thoracic complications (airway obstruction, superior vena cava syndrome, cardiac tamponade), intra-abdominal complications (bowel obstruction and perforation, hydronephrosis, abdominal compartment syndrome) and haematological-related emergencies (thrombosis, infection, massive haemorrhage). Within each subsection, we highlight pertinent clinical and imaging considerations. The overall objective of this pictorial review is to illustrate how primary childhood malignancies may present with life-threatening complications, and emphasise the need for imminent patient management. [ABSTRACT FROM AUTHOR]

Purpose: We report a retrospective comparison between bi-dimensional RANO criteria and manual volumetric segmentation (MVS) in pediatric low-grade gliomas.Methods: MRI FLAIR or T1 post contrast images were used for assessment of tumor response. Seventy patients were included in this single center study, for each patient two scans were assessed (“time 0” and “end of therapy”) and response to therapy was evaluated for both methods. Inter-reader variability and average time for volumetric assessment were also calculated.Results: Fourteen (20%) of the 70 patients had discordant results in terms of response assessment between the bi-dimensional measurements and MVS. All volumetric response assessments were in keeping with the subjective analysis of tumor (radiology report). Of the 14 patients, 6 had stable disease (SD) on MVS and progressive disease (PD) on 2D assessment, 5 patients had SD on MVS and partial response (PR) on 2D assessment, 2 patients had PD on MVS and SD on 2D assessment, and 1 patient had PR on MVS and SD on 2D analysis. The number of discordant results rises to 21(30%) if minor response is integrated in the response assessment. MVS was relatively fast and showed high inter-reader concordance.Conclusion: Our analysis shows that therapeutic response classification may change in a significant number of children by performing a volumetric tumor assessment. Furthermore, MVS is not particularly time consuming and has very good inter-reader concordance. [ABSTRACT FROM AUTHOR]

Introduction: Os odontoideum refers to a rounded ossicle detached from a hypoplastic odontoid process at the body of the axis. The aetiology has been debated and believed to be either congenital or acquired (resulting from trauma). Os odontoideum results in incompetence of the transverse ligament and thus predisposes to atlantoaxial instability and spinal cord injury. Methods/results: Three cases of children with severe dystonic cerebral palsy presenting with myelopathic deterioration secondary to atlantoaxial instability due to os odontoideum are presented. This observation supports the hypothesis of os odontoideum being an acquired phenomenon, secondary to chronic excessive movement with damage to the developing odontoid process. Conclusion: In children with cerebral palsy and dystonia, pre-existing motor deficits may conceal an evolving myelopathy and result in delayed diagnosis of clinically significant atlantoaxial subluxation. [ABSTRACT FROM AUTHOR]

Background: IgG4-related systemic disease (IgG4-RSD) is a recently recognised fibroinflammatory condition, characterized by a tissue infiltration and/or enlargement and typical histopathological findings. Methods and results: We report on a 73-year-old male with bilateral preauricular swelling and a remote history of unexplained systemic disease. Magnetic resonance imaging showed enlargement of all major salivary glands and cervical lymph node due to a tissue infiltration with marked enhancement and restricted diffusion. Elevated serum IgG4 levels and histopathological findings on an excisional lymph node biopsy were consistent with IgG4-RSD. Conclusion: Magnetic resonance imaging seems to be a useful tool to support the diagnosis of IgG4-related systemic disease of salivary glands. [ABSTRACT FROM AUTHOR]

• TPO and frontal disconnection are effective treatments for epilepsy in children. • A brain lesion contained within the disconnection is associated with good outcomes. • Younger patients appear more likely to experience favourable post-op outcomes. In this study, we investigate the seizure outcomes of temporo-parieto-occipital (TPO) and frontal disconnections or resections in children with drug-resistant epilepsy (DRE) in order to determine factors which may predict surgical results. Children with DRE, who underwent either TPO or frontal disconnection or resection at Great Ormond Street Hospital for Children between 2000 and 2017, were identified from a prospectively collated operative database. Demographic data, age at surgery, type of surgery, scalp EEGs and operative histopathology were collected. Magnetic resonance imaging (MRI) was assessed to determine completeness of disconnection and presence of radiological lesion beyond the disconnection margins. Seizure outcome at 6, 12, and 24 months post-surgery was assessed using the Engel Scale (ES). Logistic regression was used to identify relationships between data variables and seizure outcome. 46 children (males = 28, females = 18; age range 0.5–16.6 years) who underwent TPO (n = 32, including a re-do disconnection) or frontal disconnection or resection (n = 15) were identified. Patients in the TPO treatment group had more favourable seizure outcomes than those in the frontal treatment group (ES I–II in 56 % vs 47 % at 6 months, 52 % vs 46 % at 12 months). Presence of the lesion beyond disconnection boundaries and older age at the time of surgery were associated with poorer seizure outcome. Gender, surgery type, completeness of disconnection, scalp EEG findings and underlying pathology were not related to seizure outcome, but subgroup numbers were small. Both TPO and frontal disconnection are effective treatments for selected children with posterior multi-lobar or diffuse frontal lobe epilepsy. Confinement of the MRI lesion within the disconnection margins and a younger age at surgery are associated with favourable seizure outcomes. Further studies are required to elucidate these findings. [ABSTRACT FROM AUTHOR]

Purpose: Normative ADC values of the pineal gland in young children are currently lacking, however, these are potentially useful in the differential diagnosis of pineal involvement in trilateral retinoblastoma, which is challenging when the size of the tumor is less than 10–15 mm. The main objective of this study was to establish ADC reference values of the normal pineal gland in a large cohort of children between 0 and 4 years. Methods: This retrospective study was conducted in a tertiary pediatric hospital. We collected 64 patients with normal MRI examination (between 2017 and 2024) and clinical indication unrelated to the pineal gland, and divided them into 5 age groups (0 to 4 years). Gland size and mean ADC values were calculated, using the ellipsoid formula and ROI/histogram analysis, respectively. The established values were tested in three cases of trilateral retinoblastoma (10 to 20 months). Results: Mean ADC values were always above 1000 × 10− 6 mm2/s, while in patients with trilateral retinoblastoma they were around 800 × 10− 6 mm2/s. Pineal ADC values were identical in both genders. The volume of the pineal gland showed a tendency to increase with age. Conclusions: We present ADC reference data for the pineal gland in children under 4 years of age. The distribution of mean ADC values of trilateral retinoblastoma was significantly different from the normative values, hence, the use DWI/ADC may help to identify small trilateral retinoblastoma in children with ocular pathology. [ABSTRACT FROM AUTHOR]

Floating-Harbor syndrome (FHS) is a rare, heritable disorder caused by variants in the SRCAP gene. Most individuals with FHS have characteristic facial features, short stature, and speech and language impairment. Although FHS has been likely under-diagnosed due to a combination of lack of recognition of the clinical phenotype and limited access to genomic testing, it is a rare condition with around 100 individuals reported in the medical literature. Case series have been biased towards younger individuals (vast majority <20 years of age) meaning that it has been challenging to provide accurate medical advice for affected individuals in adulthood. We report two young adults with FHS who presented with intracranial haemorrhage likely secondary to cerebrovascular aneurysms, with devastating consequences, making a total of four FHS patients reported with significant cerebrovascular abnormalities. Three of four patients had hypertension, at least one in conjunction with normal renal structure. We consider possible relationships between hypertension, renal pathology and aneurysms in the context of FHS, and consider mechanisms through which disruption of the SRCAP protein may lead to vascular pathology. We recommend that clinicians should have a low threshold to investigate symptoms suggestive of cerebrovascular disease in FHS. We advise that patients with FHS should have annual blood pressure monitoring from adolescence, renal ultrasound at diagnosis repeated in adulthood, and timely investigation of any neurological symptoms. For patients with FHS, particularly with hypertension, we advise that clinicians should consider at least one MRA (Magnetic Resonance Imaging with Angiography) to check for cerebral aneurysms. [ABSTRACT FROM AUTHOR]

Purpose: To describe in detail the temporal bone and brain findings in both common and rare syndromic causes of hearing loss, with the purpose of broadening among radiologists and enhance the current understanding of distinct imaging features in paediatric patients with syndromic hearing loss.Methods: A detailed search of electronic databases has been conducted, including PubMed, Ovid Medline, Scopus, Cochrane Library, Google Scholar, National Institute for Health and Care Excellence (NICE), Embase, and PsycINFO.Results: Syndromic causes of hearing loss are characterised by different and sometimes specific abnormalities in the temporal bone.Conclusion: A complete knowledge of the image findings in the temporal bones, brain, skull and other body regions is critical for the optimal assessment and management of these patients. [ABSTRACT FROM AUTHOR]

Labyrinthine aplasia, microtia, and microdontia (LAMM) is an autosomal recessive condition causing profound congenital deafness, complete absence of inner ear structures (usually Michel's aplasia), microtia (usually type 1) and microdontia. To date, several families have been described with this condition and a number of mutations has been reported. We report on eight further cases of LAMM syndrome including three novel mutations, c. 173T>C p.L58P; c. 284G>A p.(Arg95Gln) and c.325_327delinsA p.(Glu109Thrfs*18). Congenital deafness was the primary presenting feature in all affected individuals and consanguinity in all but two families. We compare the features in our patients to those previously reported in LAMM, and describe a milder, asymmetrical phenotype associated with FGF3 mutations. [ABSTRACT FROM AUTHOR]

Gadolinium is a contrast agent that is used in MRI. There is new evidence that gadolinium accumulates in a patient's body and the effects of this accumulation is unknown. This has resulted in different advice being given by European Medicine Agency and U.S. Food and Drug Administration. The European Medicine Agency recommended stopping the use of linear Gadolinium agents (requiring more proof of safety) while the Food and Drug Administration continues to permit its use (requiring more proof of harm). Gadolinium should be used if deemed clinically necessary. Children and parents should be informed of the benefits and potential harm of using gadolinium-based contrast. It is up for debate whether those imaged before with gadolinium will benefit from being informed of new evidence. [ABSTRACT FROM AUTHOR]

Objective: The objective was to analyze seizure semiology in pediatric frontal lobe epilepsy patients, considering age, to localize the seizure onset zone for surgical resection in focal epilepsy. Methods: Fifty patients were identified retrospectively, who achieved seizure freedom after frontal lobe resective surgery at Great Ormond Street Hospital. Video‐electroencephalography recordings of preoperative ictal seizure semiology were analyzed, stratifying the data based on resection region (mesial or lateral frontal lobe) and age at surgery (≤4 vs >4). Results: Pediatric frontal lobe epilepsy is characterized by frequent, short, complex seizures, similar to adult cohorts. Children with mesial onset had higher occurrence of head deviation (either direction: 55.6% vs 17.4%; p = 0.02) and contralateral head deviation (22.2% vs 0.0%; p = 0.03), ictal body‐turning (55.6% vs 13.0%; p = 0.006; ipsilateral: 55.6% vs 4.3%; p = 0.0003), and complex motor signs (88.9% vs 56.5%; p = 0.037). Both age groups (≤4 and >4 years) showed hyperkinetic features (21.1% vs 32.1%), contrary to previous reports. The very young group showed more myoclonic (36.8% vs 3.6%; p = 0.005) and hypomotor features (31.6% vs 0.0%; p = 0.003), and fewer behavioral features (36.8% vs 71.4%; p = 0.03) and reduced responsiveness (31.6% vs 78.6%; p = 0.002). Interpretation: This study presents the most extensive semiological analysis of children with confirmed frontal lobe epilepsy. It identifies semiological features that aid in differentiating between mesial and lateral onset. Despite age‐dependent differences, typical frontal lobe features, including hyperkinetic seizures, are observed even in very young children. A better understanding of pediatric seizure semiology may enhance the accuracy of onset identification, and enable earlier presurgical evaluation, improving postsurgical outcomes. ANN NEUROL 2024;95:1138–1148 [ABSTRACT FROM AUTHOR]

Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of epilepsies characterized by early‐onset, refractory seizures associated with developmental regression or impairment, with a heterogeneous genetic landscape including genes implicated in various pathways and mechanisms. We retrospectively studied the clinical and genetic data of patients with genetic DEE who presented at two tertiary centers in Egypt over a 10‐year period. Exome sequencing was used for genetic testing. We report 74 patients from 63 unrelated Egyptian families, with a high rate of consanguinity (58%). The most common seizure type was generalized tonic–clonic (58%) and multiple seizure types were common (55%). The most common epilepsy syndrome was early infantile DEE (50%). All patients showed variable degrees of developmental impairment. Microcephaly, hypotonia, ophthalmological involvement and neuroimaging abnormalities were common. Eighteen novel variants were identified and the phenotypes of five DEE genes were expanded with novel phenotype–genotype associations. Obtaining a genetic diagnosis had implications on epilepsy management in 17 patients with variants in 12 genes. In this study, we expand the phenotype and genotype spectrum of DEE in a large single ethnic cohort of patients. Reaching a genetic diagnosis guided precision management of epilepsy in a significant proportion of patients. [ABSTRACT FROM AUTHOR]

Brain injury is frequently observed during septic shock and may be primarily related to the direct effects of the septic insult on the brain or to secondary/indirect injuries (e.g. hypotension, hypoxaemia and hyperglycaemia). We sought to assess incidence and pattern of brain lesions diagnosed by neuroimaging in paediatric septic shock patients. Retrospective descriptive hospital-based study included paediatric patients with a single episode of septic shock admitted to our tertiary paediatric intensive care unit from January 2010 to December 2013. 49 of 193 septic shock patients had a neuroimaging examination [CT only 22 (45%), MRI only 14 (29%) and both 13 (27%)]. Neuroimaging was normal in 16 patients (33%) and showed acute lesions in 20 patients (40%). The most frequent findings were: cerebral infarcts/hypoxic ischaemic injury in 8 (16%) and cerebritis in 7 (14%). The incidence of acute brain lesion in our septic shock cohort was 10% (20 of 193). The diagnosis of brain dysfunction in septic shock patients relies essentially on neurological examination and neurological tests, such as electroencephalography and neuroimaging. Neuroimaging can reveal acute intracerebral structural lesions and their reversibility, helping with management and prognosis. Ischaemic lesions and cerebritis are the most common brain anomalies complicating paediatric septic shock. [ABSTRACT FROM AUTHOR]

This review updates the radiologist on current epilepsy surgery practice in children, with a specific focus on the role of imaging in pre-surgical work-up, current and novel surgical techniques, expected post-surgical imaging appearances and important post-operative complications. A comprehensive review of the current and emerging international practices in paediatric epilepsy surgical planning and post-operative imaging is provided with details on case-based radiological findings. A detailed discussion of the pathophysiology and imaging features of different epileptogenic lesions will not be discussed as this is not the objective of this paper. Epilepsy surgery can be an effective method to control seizures in certain children with drug-resistant focal epilepsy. Early surgery in selected appropriate cases can lead to improved cognitive and developmental outcome. Advances in neurosurgical techniques, imaging and neuroanaesthesia have driven a parallel expansion in the array of epilepsy conditions which are potentially treatable with surgery. The range of surgical options is now wide, including minimally invasive ablative procedures for small lesions such as hypothalamic hamartomata, resections for focal lesions like hippocampal sclerosis and complex disconnective surgeries for multilobar conditions like Sturge Weber Syndrome and diffuse cortical malformations. An awareness of the surgical thinking when planning epilepsy surgery in children, and the practical knowledge of the operative steps involved will promote more accurate radiology reporting of the post-operative scan. [ABSTRACT FROM AUTHOR]

Aim: To evaluate a lesion detection algorithm designed to detect focal cortical dysplasia (FCD) in children undergoing stereoelectroencephalography (SEEG) as part of their presurgical evaluation for drug‐resistant epilepsy. Method: This was a prospective, single‐arm, interventional study (Idea, Development, Exploration, Assessment, and Long‐Term Follow‐Up phase 1/2a). After routine SEEG planning, structural magnetic resonance imaging sequences were run through an FCD lesion detection algorithm to identify putative clusters. If the top three clusters were not already sampled, up to three additional SEEG electrodes were added. The primary outcome measure was the proportion of patients who had additional electrode contacts in the SEEG‐defined seizure‐onset zone (SOZ). Results: Twenty patients (median age 12 years, range 4–18 years) were enrolled, one of whom did not undergo SEEG. Additional electrode contacts were part of the SOZ in 1 out of 19 patients while 3 out of 19 patients had clusters that were part of the SOZ but they were already implanted. A total of 16 additional electrodes were implanted in nine patients and there were no adverse events from the additional electrodes. Interpretation: We demonstrate early‐stage prospective clinical validation of a machine learning lesion detection algorithm used to aid the identification of the SOZ in children undergoing SEEG. We share key lessons learnt from this evaluation and emphasize the importance of robust prospective evaluation before routine clinical adoption of such algorithms. What this paper adds: The focal cortical dysplasia detection algorithm collocated with the seizure‐onset zone (SOZ) in 4 out of 19 patients.The algorithm changed the resection boundaries in 1 of 19 patients undergoing stereoelectroencephalography for drug‐resistant epilepsy.The patient with an altered resection due to the algorithm was seizure‐free 1 year after resective surgery.Overall, the algorithm did not increase the proportion of patients in whom SOZ was identified. [ABSTRACT FROM AUTHOR]

Objective: Focal epilepsy is common in low‐ and middle‐income countries. The frequency and nature of possible underlying structural brain abnormalities have, however, not been fully assessed. Methods: We evaluated the possible structural causes of epilepsy in 331 people with epilepsy (240 from Kenya and 91 from South Africa) identified from community surveys of active convulsive epilepsy. Magnetic resonance imaging (MRI) scans were acquired on 1.5‐Tesla scanners to determine the frequency and nature of any underlying lesions. We estimated the prevalence of these abnormalities using Bayesian priors (from an earlier pilot study) and observed data (from this study). We used a mixed‐effect modified Poisson regression approach with the site as a random effect to determine the clinical features associated with neuropathology. Results: MRI abnormalities were found in 140 of 240 (modeled prevalence = 59%, 95% confidence interval [CI]: 53%–64%) of people with epilepsy in Kenya, and in 62 of 91 (modeled prevalence = 65%, 95% CI: 57%–73%) in South Africa, with a pooled modeled prevalence of 61% (95% CI: 56%–66%). Abnormalities were common in those with a history of adverse perinatal events (15/23 [65%, 95% CI: 43%–84%]), exposure to parasitic infections (83/120 [69%, 95% CI: 60%–77%]) and focal electroencephalographic features (97/142 [68%, 95% CI: 60%–76%]), but less frequent in individuals with generalized electroencephalographic features (44/99 [44%, 95% CI: 34%–55%]). Most abnormalities were potentially epileptogenic (167/202, 82%), of which mesial temporal sclerosis (43%) and gliosis (34%) were the most frequent. Abnormalities were associated with co‐occurrence of generalized non‐convulsive seizures (relative risk [RR] = 1.12, 95% CI: 1.04–1.25), lack of family history of seizures (RR = 0.91, 0.86–0.96), convulsive status epilepticus (RR = 1.14, 1.08–1.21), frequent seizures (RR = 1.12, 1.04–1.20), and reported use of anti‐seizure medication (RR = 1.22, 1.18–1.26). Significance: MRI identified pathologies are common in people with epilepsy in Kenya and South Africa. Mesial temporal sclerosis, the most common abnormality, may be amenable to surgical correction. MRI may have a diagnostic value in rural Africa, but future longitudinal studies should examine the prognostic role. [ABSTRACT FROM AUTHOR]

Children living with achondroplasia are at an increased risk of developing neurological complications, which may be associated with acute and life-altering events. To remediate this risk, the timely acquisition of effective neuroimaging that can help to guide clinical management is essential. We propose imaging protocols and follow-up strategies for evaluating the neuroanatomy of these children and to effectively identify potential neurological complications, including compression at the cervicomedullary junction secondary to foramen magnum stenosis, spinal deformity and spinal canal stenosis. When compiling these recommendations, emphasis has been placed on reducing scan times and avoiding unnecessary radiation exposure. Standardized imaging protocols are important to ensure that clinically useful neuroimaging is performed in children living with achondroplasia and to ensure reproducibility in future clinical trials. The members of the European Society of Pediatric Radiology (ESPR) Neuroradiology Taskforce and European Society of Neuroradiology pediatric subcommittee, together with clinicians and surgeons with specific expertise in achondroplasia, wrote this opinion paper. The research committee of the ESPR also endorsed the final draft. The rationale for these recommendations is based on currently available literature, supplemented by best practice opinion from radiologists and clinicians with subject-specific expertise. [ABSTRACT FROM AUTHOR]

Assessing tumor response is a large part of everyday clinical work in neuroradiology. However in the setting of tumor treatment, distinguishing tumor progression from treatment-related changes is difficult on conventional MRI sequences. This is made even more challenging in children where mainstay advanced imaging techniques that are often used to decipher progression versus treatment-related changes have technical limitations. In this review, we highlight the challenges in pediatric neuro-oncologic tumor assessment with discussion of pseudophenomenon including pseudoresponse and pseudoprogression. Additionally, we discuss the advanced imaging techniques often employed in neuroradiology to distinguish between pseudophenomenon and true progressive disease. [ABSTRACT FROM AUTHOR]

Low-field (< 1 T) magnetic resonance imaging (MRI) scanners remain in widespread use in low- and middle-income countries (LMICs) and are commonly used for some applications in higher income countries e.g. for small child patients with obesity, claustrophobia, implants, or tattoos. However, low-field MR images commonly have lower resolution and poorer contrast than images from high field (1.5T, 3T, and above). Here, we present Image Quality Transfer (IQT) to enhance low-field structural MRI by estimating from a low-field image the image we would have obtained from the same subject at high field. Our approach uses (i) a stochastic low-field image simulator as the forward model to capture uncertainty and variation in the contrast of low-field images corresponding to a particular high-field image, and (ii) an anisotropic U-Net variant specifically designed for the IQT inverse problem. We evaluate the proposed algorithm both in simulation and using multi-contrast (T1-weighted, T2-weighted, and fluid attenuated inversion recovery (FLAIR)) clinical low-field MRI data from an LMIC hospital. We show the efficacy of IQT in improving contrast and resolution of low-field MR images. We demonstrate that IQT-enhanced images have potential for enhancing visualisation of anatomical structures and pathological lesions of clinical relevance from the perspective of radiologists. IQT is proved to have capability of boosting the diagnostic value of low-field MRI, especially in low-resource settings. [Display omitted] • IQT boosts low-field MRI by estimating the image having been obtained at high field. • Stochastic decimation simulator is devised to account for low-field MRI variability. • Anisotropic U-Net architecture handles the anisotropic-to-isotropic voxel mapping. • Our results show that IQT can enhance the visualisation of anatomical structures. • IQT potentially aids radiologists in characterising lesions of clinical relevance. [ABSTRACT FROM AUTHOR]

Laser ablation for treatment of hypothalamic hamartoma (HH) is a minimally invasive and effective technique used to destroy hamartomatous tissue and disconnect it from the functioning brain. Currently, the gold standard to evaluate the amount of tissue being "burned" is the use of heat maps during the ablation procedure. However, these maps have low spatial resolution and can be misleading in terms of extension of the tissue damage. The aim of this study is to use different MRI sequences immediately after each laser ablation and correlate the extension of signal changes with the volume of malacic changes in a long-term follow-up scan. During the laser ablation procedure, we imaged the hypothalamic region with high-resolution axial diffusion-weighted images (DWI) and T2-weighted images (T2WI) after each ablation. At the end of the procedure, we also added a post-contrast T1-weighted image (T1WI) of the same region. We then correlated the product of the maximum diameters on axial showing signal changes (acute oedema on T2WI, DWI restriction rim, DWI hypointense core and post-contrast T1WI rim) with the product of the maximum diameters on axial T2WI of the malacic changes in the follow-up scan, both as a fraction of the total area of the hamartoma. The area of the hypointense core on DWI acquired immediately after the laser ablation statistically correlated better with the final area of encephalomalacia, while the T2WI, hyperintense oedema, DWI rim and T1WI rim of enhancement tended to overestimate the encephalomalacic damage. In conclusion, the use of intraoperative sequences (in particular DWI) during laser ablation can give surgeons valuable information in real time about the effective heating damage on the hamartomatous tissue, with better spatial resolution in comparison to the thermal maps. [ABSTRACT FROM AUTHOR]

Congenital melanocytic naevus (CMN) syndrome, previously termed neurocutaneous melanosis, is a rare disease caused by postzygotic mosaic mutations occurring during embryogenesis in precursors of melanocytes. The severity of neurological manifestations in CMN patients is related to central nervous system abnormalities found at magnetic resonance imaging. The association between CMN and Dandy–Walker malformation (DWM) has been described in the literature, but recent advances in imaging and genetics lead to diagnostic criteria revision. In this paper, we aim to re-evaluate the proposed association by reviewing the available literature and present a patient with CMN and a large posterior fossa cyst. [ABSTRACT FROM AUTHOR]

Purpose: We reviewed the genotypes and the imaging appearances of cochleae in CHARGE patients from two large tertiary centres and analysed the observed cochlear anomalies, providing detailed anatomical description and a grading system. The goal was to gain insight into the spectrum of cochlear anomalies in CHARGE syndrome, and thus, in the role of the CHD7 gene in otic vesicle development. Methods: We retrospectively reviewed CT and/or MR imaging of CHARGE patients referred to our institutions between 2005 and 2022. Cochlear morphology was analysed and, when abnormal, divided into 3 groups in order of progressive severity. Other radiological findings in the temporal bone were also recorded. Comparison with the existing classification system of cochlear malformation was also attempted. Results: Cochlear morphology in our CHARGE cohort ranged from normal to extreme hypoplasia. The most common phenotype was cochlear hypoplasia in which the basal turn was relatively preserved, and the upper turns were underdeveloped. All patients in the cohort had absent or markedly hypoplastic semicircular canals and small, misshapen vestibules. Aside from a stenotic cochlear aperture (fossette) being associated with a hypoplastic or absent cochlear nerve, there was no consistent relationship between cochlear nerve status (normal, hypoplasia, or aplasia) and cochlear morphology. Conclusion: Cochlear morphology in CHARGE syndrome is variable. Whenever the cochlea was abnormal, it was almost invariably hypoplastic. This may shed light on the role of CHD7 in cochlear development. Accurate morphological description of the cochlea contributes to proper clinical diagnosis and is important for planning surgical treatment options. [ABSTRACT FROM AUTHOR]

Simple Summary: Head and neck tumors (HNTs) are associated with a high mortality due to their commonly insidious and asymptomatic development. Regarding risk stratification and long-term patient outcome prediction, routine clinical evaluation by radiologists has several limitations. Numerous researchers have assessed the usefulness of radiomics and artificial intelligence in the context of head and neck tumor imaging given the exponential development of these technologies in medical imaging. These were geared at the creation of reliable and reproducible models based on quantitative data. Even if there are still a few obstacles to their widespread usage in clinical practice, it is clear that they have the potential to be revolutionary. In this paper, we provide a thorough overview of radiomics and artificial intelligence applications in head and neck tumor imaging. Recent advances in machine learning and artificial intelligence technology have ensured automated evaluation of medical images. As a result, quantifiable diagnostic and prognostic biomarkers have been created. We discuss radiomics applications for the head and neck region in this paper. Molecular characterization, categorization, prognosis and therapy recommendation are given special consideration. In a narrative manner, we outline the fundamental technological principles, the overall idea and usual workflow of radiomic analysis and what seem to be the present and potential challenges in normal clinical practice. Clinical oncology intends for all of this to ensure informed decision support for personalized and useful cancer treatment. Head and neck cancers present a unique set of diagnostic and therapeutic challenges. These challenges are brought on by the complicated anatomy and heterogeneity of the area under investigation. Radiomics has the potential to address these barriers. Future research must be interdisciplinary and focus on the study of certain oncologic functions and outcomes, with external validation and multi-institutional cooperation in order to achieve this. [ABSTRACT FROM AUTHOR]

Imaging investigations are critical in the management of children with suspected and confirmed osteopetrosis. In severe cases, imaging can provide rapid confirmation of the diagnosis, whilst in milder cases, imaging findings may be the first or only indicators of the disease. Imaging can also identify major complications, including fractures and neurological compromise. We review the pathophysiological basis for the imaging findings in osteopetrosis, focusing on the impact of loss of various osteoclast functions leading to elevated bone density, hyperostosis, modelling abnormalities and bone fragility. We give an overview of the specific imaging findings, both skeletal and neuroradiological, in the spectrum of osteopetrotic disorders, including in the related entities of pyknodysostosis and dysosteosclerosis. We also explore potential radiological differential diagnoses. • Radiology is central to establishing a clinical diagnosis of osteopetrosis. • Loss of osteoclast remodelling functions explains the radiological findings. • A radiographic skeletal survey is recommended when osteopetrosis is suspected clinically. • Radiographic findings are key to distinguishing between osteopetrosis and differential diagnoses. • Neuroimaging to assess cranial foramina and brain abnormalities is required in most cases. [ABSTRACT FROM AUTHOR]

Objective: To determine whether an ictal electroencephalographic (EEG) recording as part of presurgical evaluation of children with a demarcated single unilateral magnetic resonance imaging (MRI) lesion is indispensable for surgical decision‐making, we investigated the relationship of interictal/ictal EEG and seizure semiology with seizure‐free outcome. Methods: Data were obtained retrospectively from consecutive patients (≤18 years old) undergoing epilepsy surgery with a single unilateral MRI lesion at our institution over a 6‐year period. Video‐telemetry EEG (VT‐EEG) was classified as concordant or nonconcordant/noninformative in relation to the MRI lesion location. The odds of seizure‐free outcome associated with nonconcordant versus concordant for semiology, interictal EEG, and ictal EEG were compared separately. Multivariate logistic regression was conducted to correct for confounding variables. Results: After a median follow‐up of 26 months (interquartile range = 17–37.5), 73 (69%) of 117 children enrolled were seizure‐free. Histopathological diagnoses included low‐grade epilepsy‐associated tumors, n = 46 (39%); focal cortical dysplasia (FCD), n = 33 (28%); mesial temporal sclerosis (MTS), n = 23 (20%); polymicrogyria, n = 3 (3%); and nondiagnostic findings/gliosis, n = 12 (10%). The odds of seizure freedom were lower with a nonconcordant interictal EEG (odds ratio [OR] =.227, 95% confidence interval [CI] =.079–.646, p =.006) and nonconcordant ictal EEG (OR =.359, 95% CI =.15–.878, p =.035). In the multivariate logistic regression model, factors predicting lower odds for seizure‐free outcome were developmental delay/intellectual disability and higher number of antiseizure medications tried, with a nonsignificant trend for "nonconcordant interictal EEG." In the combined subgroup of patients with FCD and tumors (n = 79), there was no significant relationship of VT‐EEG factors and seizure outcomes, whereas in children with MTS and acquired lesions (n = 25), a nonconcordant EEG was associated with poorer seizure outcomes (p =.003). Significance: An ictal EEG may not be mandatory for presurgical evaluation, particularly when a well‐defined single unilateral MRI lesion has been identified and the interictal EEG is concordant. [ABSTRACT FROM AUTHOR]

Congenital orbital teratomas are rare entities with few case reports detailing their prenatal and perinatal imaging features. We present the case of a congenital orbital teratoma initially detected as cystic lesion on prenatal ultrasound, with foetal and postnatal imaging showing evolution of characteristic MRI appearances. Knowledge of these appearances and the ability to diagnose these rare entities in foetal life can aid management and operative planning in the immediate postnatal period. [ABSTRACT FROM AUTHOR]

One outstanding challenge for machine learning in diagnostic biomedical imaging is algorithm interpretability. A key application is the identification of subtle epileptogenic focal cortical dysplasias (FCDs) from structural MRI. FCDs are difficult to visualize on structural MRI but are often amenable to surgical resection. We aimed to develop an open-source, interpretable, surface-based machine-learning algorithm to automatically identify FCDs on heterogeneous structural MRI data from epilepsy surgery centres worldwide. The Multi-centre Epilepsy Lesion Detection (MELD) Project collated and harmonized a retrospective MRI cohort of 1015 participants, 618 patients with focal FCD-related epilepsy and 397 controls, from 22 epilepsy centres worldwide. We created a neural network for FCD detection based on 33 surface-based features. The network was trained and cross-validated on 50% of the total cohort and tested on the remaining 50% as well as on 2 independent test sites. Multidimensional feature analysis and integrated gradient saliencies were used to interrogate network performance. Our pipeline outputs individual patient reports, which identify the location of predicted lesions, alongside their imaging features and relative saliency to the classifier. On a restricted 'gold-standard' subcohort of seizure-free patients with FCD type IIB who had T1 and fluid-attenuated inversion recovery MRI data, the MELD FCD surface-based algorithm had a sensitivity of 85%. Across the entire withheld test cohort the sensitivity was 59% and specificity was 54%. After including a border zone around lesions, to account for uncertainty around the borders of manually delineated lesion masks, the sensitivity was 67%. This multicentre, multinational study with open access protocols and code has developed a robust and interpretable machine-learning algorithm for automated detection of focal cortical dysplasias, giving physicians greater confidence in the identification of subtle MRI lesions in individuals with epilepsy. [ABSTRACT FROM AUTHOR]

Objective Since 2008, we have changed our presurgical diagnostic imaging evaluation for medically refractory focal epilepsy to include high-resolution epilepsy protocol on 3 T magnetic resonance imaging ( MRI), and combined magnetoencephalography and 18-fluorodeoxyglucose-positron emission tomography ( FDG- PET) in selected patients with normal or subtle changes on MRI or discordant diagnostic tests. The aim of this study was to evaluate the effectiveness of the change in imaging practice on epilepsy surgery outcome in a tertiary pediatric epilepsy surgery center. Methods The change in practice occurred in early 2008, and patients were classified based on old or new practice. The patient characteristics, surgical variables, and seizure-free surgical outcome were compared, and the trend in seizure-free outcome over time was assessed. Results There was a trend for increased abnormal MRI (92% vs. 86%, respectively, p = 0.062), and increased utilization of FDG- PET (34% vs. 3% respectively, p < 0.001) with new relative to old practice. There were no statistically significant differences in invasive monitoring, location, and type of surgery and histology between the two periods (all p > 0.05). During the old practice, there was no statistically significant change in yearly trend of seizure-free outcome (odds ratio [ OR] 0.960, 95% confidence interval [ CI] 0.875-1.053, p = 0.386). The change in practice in 2008 was associated with a significant improvement in seizure-free outcome ( OR 1.535, 95% CI 1.100-2.142, p = 0.012). During the new practice, there was a significant positive trend in yearly seizure-free outcome ( OR 1.219, 95% CI 1.053-1.411, p = 0.008), after adjusting for age at seizure onset, invasive monitoring, location and type of surgery, histology, MRI, magnetoencephalography, and FDG- PET. Significance We have found an improvement in seizure-free surgical outcome following the change in imaging practice. This study highlights the importance of optimizing and improving presurgical diagnostic imaging evaluation to improve surgical outcome. [ABSTRACT FROM AUTHOR]

The fifth edition of the World Health Organization Classification of Tumours of the Central Nervous System (WHO CNS5) published in 2021 builds on the 2016 edition and incorporates output from the Consortium to Inform Molecular and Practical Approaches to CNS Tumour Taxonomy (cIMPACT-NOW). WHO CNS5 introduces fundamental changes to brain tumour classification through the introduction of new tumour families and types, especially in the paediatric population, and a revision of diagnostic criteria for some of the existing neoplasms. Neuroradiologists are central to brain tumour diagnostics, and it is therefore essential that they become familiar with the key updates. This review aims to summarise the most relevant updates for the neuroradiologist and, where available, discuss the known radiophenotypes of various new tumour types to allow for increased accuracy of language and diagnosis. Of particular importance, WHO CNS5 places greater emphasis on organising tumours by molecular type to reflect biology, as well as to allow for better planning of treatment. The principal updates in adult tumours concern the molecular definition of glioblastoma, restructuring of diffuse gliomas, and the introduction of several new tumour types. The updates to the paediatric classification are protean, ranging from the introduction of new types to establishing separate tumour families for paediatric-type gliomas. This review summarises the most significant revisions and captures the rationale and radiological implications for the major updates. [ABSTRACT FROM AUTHOR]

Background: Malformations of cortical development (MCDs) in children with focal epilepsy pose significant diagnostic challenges, and a precise radiological diagnosis is crucial for surgical planning. New MRI sequences and the use of artificial intelligence (AI) algorithms are considered very promising in this regard, yet studies evaluating the relative contribution of each diagnostic technique are lacking.The study was conducted using a dedicated “EPI-MCD MR protocol” with a 3 Tesla MRI scanner in patients with focal epilepsy and previously negative MRI. MRI sequences evaluated included 3D FLAIR, 3D T1 MPRAGE, T2 Turbo Spin Echo (TSE), 3D T1 MP2RAGE, and Arterial Spin Labelling (ASL). Two paediatric neuroradiologists scored each sequence for localisation and extension of the lesion. The MELD-FCD AI classifier’s performance in identifying pathological findings was also assessed. We only included patients where a diagnosis of MCD was subsequently confirmed on histology and/or sEEG.The 3D FLAIR sequence showed the highest yield in detecting epileptogenic lesions, with 3D T1 MPRAGE, T2 TSE, and 3D T1 MP2RAGE sequences showing moderate to low yield. ASL was the least useful. The MELD-FCD classifier achieved a 69.2% true positive rate. In one case, MELD identified a subtle area of cortical dysplasia overlooked by the neuroradiologists, changing the management of the patient.The 3D FLAIR sequence is the most effective in the MRI-based diagnosis of subtle epileptogenic lesions, outperforming other sequences in localisation and extension. This pilot study emphasizes the importance of careful assessment of the value of additional sequences.Methods: Malformations of cortical development (MCDs) in children with focal epilepsy pose significant diagnostic challenges, and a precise radiological diagnosis is crucial for surgical planning. New MRI sequences and the use of artificial intelligence (AI) algorithms are considered very promising in this regard, yet studies evaluating the relative contribution of each diagnostic technique are lacking.The study was conducted using a dedicated “EPI-MCD MR protocol” with a 3 Tesla MRI scanner in patients with focal epilepsy and previously negative MRI. MRI sequences evaluated included 3D FLAIR, 3D T1 MPRAGE, T2 Turbo Spin Echo (TSE), 3D T1 MP2RAGE, and Arterial Spin Labelling (ASL). Two paediatric neuroradiologists scored each sequence for localisation and extension of the lesion. The MELD-FCD AI classifier’s performance in identifying pathological findings was also assessed. We only included patients where a diagnosis of MCD was subsequently confirmed on histology and/or sEEG.The 3D FLAIR sequence showed the highest yield in detecting epileptogenic lesions, with 3D T1 MPRAGE, T2 TSE, and 3D T1 MP2RAGE sequences showing moderate to low yield. ASL was the least useful. The MELD-FCD classifier achieved a 69.2% true positive rate. In one case, MELD identified a subtle area of cortical dysplasia overlooked by the neuroradiologists, changing the management of the patient.The 3D FLAIR sequence is the most effective in the MRI-based diagnosis of subtle epileptogenic lesions, outperforming other sequences in localisation and extension. This pilot study emphasizes the importance of careful assessment of the value of additional sequences.Results: Malformations of cortical development (MCDs) in children with focal epilepsy pose significant diagnostic challenges, and a precise radiological diagnosis is crucial for surgical planning. New MRI sequences and the use of artificial intelligence (AI) algorithms are considered very promising in this regard, yet studies evaluating the relative contribution of each diagnostic technique are lacking.The study was conducted using a dedicated “EPI-MCD MR protocol” with a 3 Tesla MRI scanner in patients with focal epilepsy and previously negative MRI. MRI sequences evaluated included 3D FLAIR, 3D T1 MPRAGE, T2 Turbo Spin Echo (TSE), 3D T1 MP2RAGE, and Arterial Spin Labelling (ASL). Two paediatric neuroradiologists scored each sequence for localisation and extension of the lesion. The MELD-FCD AI classifier’s performance in identifying pathological findings was also assessed. We only included patients where a diagnosis of MCD was subsequently confirmed on histology and/or sEEG.The 3D FLAIR sequence showed the highest yield in detecting epileptogenic lesions, with 3D T1 MPRAGE, T2 TSE, and 3D T1 MP2RAGE sequences showing moderate to low yield. ASL was the least useful. The MELD-FCD classifier achieved a 69.2% true positive rate. In one case, MELD identified a subtle area of cortical dysplasia overlooked by the neuroradiologists, changing the management of the patient.The 3D FLAIR sequence is the most effective in the MRI-based diagnosis of subtle epileptogenic lesions, outperforming other sequences in localisation and extension. This pilot study emphasizes the importance of careful assessment of the value of additional sequences.Conclusions: Malformations of cortical development (MCDs) in children with focal epilepsy pose significant diagnostic challenges, and a precise radiological diagnosis is crucial for surgical planning. New MRI sequences and the use of artificial intelligence (AI) algorithms are considered very promising in this regard, yet studies evaluating the relative contribution of each diagnostic technique are lacking.The study was conducted using a dedicated “EPI-MCD MR protocol” with a 3 Tesla MRI scanner in patients with focal epilepsy and previously negative MRI. MRI sequences evaluated included 3D FLAIR, 3D T1 MPRAGE, T2 Turbo Spin Echo (TSE), 3D T1 MP2RAGE, and Arterial Spin Labelling (ASL). Two paediatric neuroradiologists scored each sequence for localisation and extension of the lesion. The MELD-FCD AI classifier’s performance in identifying pathological findings was also assessed. We only included patients where a diagnosis of MCD was subsequently confirmed on histology and/or sEEG.The 3D FLAIR sequence showed the highest yield in detecting epileptogenic lesions, with 3D T1 MPRAGE, T2 TSE, and 3D T1 MP2RAGE sequences showing moderate to low yield. ASL was the least useful. The MELD-FCD classifier achieved a 69.2% true positive rate. In one case, MELD identified a subtle area of cortical dysplasia overlooked by the neuroradiologists, changing the management of the patient.The 3D FLAIR sequence is the most effective in the MRI-based diagnosis of subtle epileptogenic lesions, outperforming other sequences in localisation and extension. This pilot study emphasizes the importance of careful assessment of the value of additional sequences. [ABSTRACT FROM AUTHOR]

• Predictors of seizure freedom in children undergoing SEEG-guided resective epilepsy surgery are unknown. • It is unknown if complete resection of SEEG-defined putative seizure onset zone contacts is a requirement for seizure freedom. • In this study, complete resection of SEEG-defined putative seizure onset zone contacts did not associate with seizure freedom. We aimed to determine whether the proportion of putative seizure onset zone (SOZ) contacts resected associates with seizure outcome in a cohort of children undergoing stereoelectroencephalography (SEEG)-guided resective epilepsy surgery. Patients who underwent SEEG-guided resective surgery over a six-year period were included. The proportion of SOZ contacts resected was determined by co-registration of pre- and post-operative imaging. Outcome was classified as seizure free (SF, Engel class I) or not seizure-free (NSF, Engel class II-IV) at last clinical follow-up. Twenty-nine patients underwent resection of whom 22 had sufficient imaging data for analysis (median age at surgery of 10 years, range 5–18). Fifteen (68.2%) were SF at median follow-up of 19.5 months (range 12–46). On univariate analysis, histopathology, was the only significant factor associated with SF (p < 0.05). The percentage of defined SOZ contacts resected ranged from 25-100% and was not associated with SF (p = 0.89). In a binary logistic regression model, it was highly likely that histology was the only independent predictor of outcome. The percentage of SOZ contacts resected was not associated with SF in children undergoing SEEG-guided resective epilepsy surgery. Factors such as spatial organisation of the epileptogenic zone, neurophysiological biomarkers and the prospective identification of pathological tissue may therefore play an important role. [ABSTRACT FROM AUTHOR]

As survival after pediatric intensive care unit (PICU) admission has improved over recent years, a key focus now is the reduction of morbidities and optimization of quality of life for survivors. Neurologic disorders and direct brain injuries are the reason for 11–16% of admissions to PICU. In addition, many critically ill children are at heightened risk of brain injury and neurodevelopmental difficulties affecting later life, e.g., complex heart disease and premature birth. Hence, assessment, monitoring and protection of the brain, using fundamental principles of neurocritical care, are crucial to the practice of pediatric intensive care medicine. The assessment of brain function, necessary to direct appropriate care, is uniquely challenging amongst children admitted to the PICU. Challenges in assessment arise in children who are unstable, or pharmacologically sedated and muscle relaxed, or who have premorbid abnormality in development. Moreover, the heterogeneity of diseases and ages in PICU patients, means that high caliber evidence is harder to accrue than in adult practice, nonetheless, great progress has been made over recent years. In this 'state of the art' paper about critically ill children, we discuss (1) patient types at risk of brain injury, (2) new standardized clinical assessment tools for age-appropriate, clinical evaluation of brain function, (3) latest evidence related to cranial imaging, non-invasive and invasive monitoring of the brain, (4) the concept of childhood 'post intensive are syndrome' and approaches for neurodevelopmental follow-up. Better understanding of these concepts is vital for taking PICU survivorship to the next level. [ABSTRACT FROM AUTHOR]