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Background and Purpose: Fetal postmortem MR Imaging (pmMRI) has been recently used as an adjuvant tool to conventional brain autopsy after termination of pregnancy (TOP). Our purpose was to compare the diagnostic performance of intrauterine MRI (iuMRI) and pmMRI in the detection of brain anomalies in fetuses at early gestational age (GA)., Material and Methods: We retrospectively collected 53 fetuses who had undergone iuMRI and pmMRI for suspected brain anomalies. Two pediatric neuroradiologists reviewed iuMRI and pmMRI examinations separately and then together. We used Cohen's K to assess the agreement between pmMRI and iuMRI. Using the combined evaluation iuMRI+pMRI as the reference standard, we calculated the "correctness ratio." We used Somers' D to assess the cograduation between postmortem image quality and time elapsed after fetus expulsion., Results: Our data showed high agreement between iuMRI and pmMRI considering all the categories together, for both observers (K1 0.84; K2 0.86). The correctness ratio of iuMRI and pmMRI was 79% and 45% respectively. The major disagreements between iuMRI and pmMRI were related to postmortem changes as the collapse of liquoral structures and distorting phenomena. We also found a significant cograduation between the time elapsed from expulsion and pmMRI contrast resolution and distortive phenomena (both p < 0.001)., Conclusions: Our study demonstrates an overall high concordance between iuMRI and pmMRI in detecting fetal brain abnormalities at early GA. Nevertheless, for the correct interpretation of pmMRI, the revision of fetal examination seems to be crucial, in particular when time elapsed from expulsion is longer than 24 h., Key Points: • IuMRI and pmMRI showed overall high concordance in detecting fetal brain abnormalities at early GA. • PmMRI corroborated the antemortem diagnosis and it could be a valid alternative to conventional brain autopsy, only when the latter cannot be performed. • Some caution should be taken in interpreting pmMR images when performed after 24 h from fetal death.

Febrile infection-related epilepsy syndrome (FIRES) is a rare severe epileptic syndrome occurring in previously healthy children and characterized by refractory status epilepticus (SE) following a febrile illness. Brain imaging findings in affected patients have been reported in few case series and some case reports. This article is a comprehensive review of the magnetic resonance imaging (MRI) characteristics in all reported patients with a diagnosis of FIRES, describing the findings in the acute and chronic phases of the disease, and discussing possible pathogenesis and radiologic differential diagnoses. Most of the patients had normal brain scans in the acute phase (61%) and about 25% of the patients reported in literature had abnormalities in the temporal lobes. Changes in the basal ganglia and rarely in thalami or brainstem have also been described, as well as diffuse cerebral edema in a minority of patients during the acute phase. The chronic phase of the disease was characterized by atrophic changes and evidence of mesiotemporal sclerosis. An understanding of these MRI abnormalities is necessary to support the diagnosis of FIRES and exclude mimics., (Wiley Periodicals, Inc. © 2019 International League Against Epilepsy.)

Background: The ALDH7A1 gene is known to be responsible for autosomal recessive pyridoxine-dependent epilepsy (OMIM 266100). The phenotypic spectrum of ALDH7A1 mutations is very heterogeneous ranging from refractory epilepsy and neurodevelopmental delay, to multisystem neonatal disorder., Aim: The present study aims at describing the phenotype associated with a novel homozygous ALDH7A1 mutation and the spectrum of brain malformations associated with pyridoxine-dependent epilepsy., Methods: We conducted a literature review on the Internet database Pubmed (up to November 2017) searching for ALDH7A1 mutations associated with brain malformations and brain MRI findings., Results: We present the case of two siblings, children of related parents. The proband presented neonatal focal seizures not responding to conventional antiepileptic drugs. Electroencephalography showed a suppression burst pattern and several multifocal ictal patterns, responsive to pyridoxine. Brain MRI was normal. Molecular analysis by targeted next-generation sequencing panel for epileptic encephalopathy disclosed a homozygous missense mutation of ALDH7A1. The same mutation was then found in a stored sample of DNA from peripheral blood of an older sister dead 3 years earlier. This girl presented a complex brain malformation diagnosed with a foetal MRI and had neonatal refractory seizures with suppression burst pattern. She died at 6 months of age., Literature Review: The brain abnormalities most frequently reported in pyridoxine-dependent epilepsy include: agenesia/hypoplasia of the corpus callosum, not specific white matter abnormalities, large cisterna magna, ventriculomegaly, haemorrhages, cerebellum hypoplasia/dysplasia, and, more rarely, dysplasia of the brainstem and hydrocephalus., Discussion and Conclusions: ALDH7A1 mutations have been associated to different brain abnormalities, documented by MRI only in few cases. The study cases expand the clinical spectrum of ALDH7A1 associated conditions, suggesting to look for ALDH7A1 mutations not only in classical phenotypes but also in patients with brain malformations, mainly if there is a response to a pyridoxine trial., (Copyright © 2018 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)

Macrocephaly is a relatively common clinical condition affecting up to 5% of the pediatric population. It is defined as an abnormally large head with an occipitofrontal circumference greater than 2 standard deviations above the mean for a given age and sex. Megalencephaly refers exclusively to brain overgrowth exceeding twice the standard deviation. Macrocephaly can be isolated and benign or may be the first indication of an underlying congenital, genetic, or acquired disorder, whereas megalencephaly is more often syndromic. Megalencephaly can be divided into 2 subtypes: metabolic and developmental, caused by genetic defects in cellular metabolism and alterations in signaling pathways, respectively. Neuroimaging plays an important role in the evaluation of macrocephaly, especially in the metabolic subtype which may not be overtly apparent clinically. This article outlines the diverse etiologies of macrocephaly, delineates their clinical and radiographic features, and suggests a clinicoradiological algorithm for evaluation.

There is an extensive and diverse set of medical conditions affecting the neonatal brain within the spectrum of neurometabolic disorders. As such, their clinical presentations can be rather nonspecific, and can often mimic acquired entities such as hypoxic-ischemic encephalopathy and sepsis. Similarly, the radiological findings in these entities can also be frequently nonspecific, but a more detailed analysis of imaging findings (especially magnetic resonance imaging) alongside the relevant clinical details can be a rewarding experience, thus enabling a timely and targeted diagnosis. Early diagnosis of an underlying neurometabolic disorder is vital, as some of these entities are potentially treatable, and laboratory and genetic testing can be precisely targeted. Further, their detection helps with counselling families for future pregnancies. We present a review of neurometabolic disorders specific to the newborns with a focus on how neuroimaging findings match their clinical presentation patterns.

A homoallelic missense founder mutation of the iron-sulfur cluster assembly 2 (ISCA2) gene has been recently reported in six cases affected by an autosomal recessive infantile neurodegenerative mitochondrial disorder. We documented a case of a 2-month-old girl presenting with severe hypotonia and nystagmus, who rapidly deteriorated and died at the age of three months. Increased cerebral spinal fluid level of lactate, documented also at the brain spectroscopy, involvement of the cortex, restricted diffusion of white and gray matter abnormalities, sparing of the corpus callosum and extensive involvement of the spinal cord were observed. Her clinical presenting features and course as well as some neuroradiological findings mimicked those of early-onset leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate (LBSL). The analysis of the mitochondrial respiratory chain function showed a reduced activity of complexes II and IV. The girl harboured two heterozygous mutations in the ISCA2 gene. A comprehensive review of the literature and a comparison with the cases of early onset LBSL enabled us to highlight significant differences in the clinical, biochemical and neuroradiological phenotype between the two conditions, which also emerged from the comparison with the other 6 reported cases of ISCA2 gene mutation previously reported. In summary, this represents the second report ever published associating ISCA2 gene mutation with a mitochondrial leukoencephalopathy, with a different genetic mechanism to the previous cases. Molecular analysis of ISCA2 should be included in the genetic panel for the diagnosis of early onset mitochondrial leukoencephalopathies.

Background and Purpose: Evaluation of biometry is a fundamental step in prenatal brain MR imaging. While different studies have reported reference centiles for MR imaging biometric data of fetuses in the late second and third trimesters of gestation, no one has reported them in fetuses in the early second trimester. We report centiles of normal MR imaging linear biometric data of a large cohort of fetal brains within 24 weeks of gestation., Materials and Methods: From the data bases of 2 referral centers of fetal medicine, accounting for 3850 examinations, we retrospectively collected 169 prenatal brain MR imaging examinations of singleton pregnancies, between 20 and 24 weeks of gestational age, with normal brain anatomy at MR imaging and normal postnatal neurologic development. To trace the reference centiles, we used the CG-LMS method., Results: Reference biometric centiles for the developing structures of the cerebrum, cerebellum, brain stem, and theca were obtained. The overall interassessor agreement was adequate for all measurements., Conclusions: Reference biometric centiles of the brain structures in fetuses between 20 and 24 weeks of gestational age may be a reliable tool in assessing fetal brain development., (© 2018 by American Journal of Neuroradiology.)

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.

Objective: The introduction of therapeutic hypothermia for neonatal hypoxic-ischemic encephalopathy calls for reevaluation of the prognostic role of somatosensory evoked potentials (SEPs)., Methods: Among 80 consecutive neonates undergoing hypothermia for hypoxic-ischemic encephalopathy, 58 performed SEPs and MRI at 4-14 days of life and were recruited in this multicenter study. SEPs were scored as: 0 (bilaterally/unilaterally recorded N20) or 1 (bilaterally absent N20). The severity of brain injury was scored using MRI., Results: Bilaterally absent N20 was observed in 10/58 neonates (17%); all had moderate/severe MRI abnormalities; 36/48 neonates (75%) with score 0 at SEPs had normal MRI. The positive predictive value of SEPs on MRI outcome was of 1.00, while the negative predictive value 0.72, sensitivity 0.48, specificity 1.00, with an accuracy of 0.78 (p < .001)., Conclusions: Bilateral absence of cortical SEPs predicts moderate/severe MRI pattern of injury., Significance: Therapeutic hypothermia does not seem to significantly affect prognostic reliability of SEPs., (Copyright © 2017 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. All rights reserved.)

Objective: We conducted an extensive review of the literature relevant to inner ear measurements in normal and malformative conditions to select reproducible methods and normative ranges that may be used in clinical practice., Data Sources and Study Selection: A review of the published literature was performed in the English language using PubMed with appropriate keywords. We selected only those articles containing normative values of inner ear structures., Data Extraction and Data Synthesis: The following measurements were identified as reproducible and sensitive for the diagnosis of inner malformations: cochlear height in coronal plane; maximal diameter of bony island of lateral semicircular canal; width of vestibular aqueduct: 1) at midpoint; 2) at operculum in axial plane; cochlear canal and cochlear width in multiplanar reconstructions (MPR)/axial; cochlear length. The following cutoffs for normal inner ears are proposed based on the comparative analysis of the literature: cochlea height: >4.3 mm; lateral semicircular canal bony island: >3 mm; vestibular aqueduct: <0.9 (midpoint) and <1.9 mm (operculum); cochlear canal (axial MPR): >1.4 mm and <2.5 mm; cochlear width (MPR): >5.4 mm., Conclusion: Measurements of inner ear structures can help in the interpretation of computed tomography images. They increase the sensitivity in detecting inner ear malformations, especially cochlear hypoplasia now considered more common than previously thought.

During aneurysm clipping, ischemic complications may occur and require a rescue treatment, usually surgical. We present two such cases that required urgent rescue treatment, performed through an endovascular route. Our first case presented with a non-ruptured right posterior inferior cerebellar artery (PICA) aneurysm. After permanent clip positioning, occlusion of the PICA occurred. An unsuccessful attempt of clip repositioning was performed. We therefore positioned a stent obtaining complete flow restoration. Our second case was that of a ruptured giant left middle cerebral artery aneurysm with focal critical stenosis of the parent vessel, likely due to an underlying dissection. Initially, the aneurysm was secured through coiling. However, after permanent clip positioning, parent artery occlusion occurred. DSA showed occlusion of the parent artery downstream to the clip and persistence of the preaneurismatic stenosis. We achieved full recanalization through stent positioning. In both cases, there were no ischemic or hemorrhagic complications., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)

Spinal vascular malformations are uncommon yet important spinal pathologies commonly classified in congenital and acquired lesions. Spinal lipomas consist of three subtypes: intramedullary lipomas, lipomyelo(meningo)celes and lipomas of the filum. Although the association of spinal arteriovenous malformations (AVM) with other congenital anomalies is well known, the coexistence of dural arteriovenous fistulas (AVF) and tethered spinal cord is exceptionally rare and only eight cases have been reported. We present two cases from our institution and speculate on the possible origin of such a rare but insidious association. We review the current literature with a focus on possible pitfalls in diagnosis and treatment.

Cervical abortive myelocistocele is a very rare congenital malformation. In this case report, we describe the prenatal magnetic resonance imaging (MRI) of such entity in a 20-week gestational age fetus, whose imaging features showed to be different from the only other previous prenatal report. We underscored the value of fetal MR for counseling and prognosis, especially when assessing the integrity of the spinal cord., (Georg Thieme Verlag KG Stuttgart · New York.)

Background: Moyamoya syndrome represents an etiologically heterogeneous cerebral evolutive angiopathy. It can be associated with both well-characterized and recently described genetic conditions with mendelian inheritance., Case Report: We report the case of a moyamoya angiopathy in a prematurely born girl affected by congenital heart defect, mild facial dysmorphism, mild neurodevelopmental delay and borderline cognitive profile, associated to a de novo complex rearrangement involving the terminal segment of the short arm of chromosome 6., Conclusion: To the best of our knowledge, this is the second case described of pediatric moyamoya syndrome associated with a 6p complex rearrangement. Adding this case to the pertinent literature, we discuss the pathogenic role of rearrangements in 6p region in moyamoya syndrome and suggest to investigate in this region potential genes involved in angiogenesis or vascular homeostasis., (Copyright © 2016 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)

Cerebrovascular complications are frequent events in children with sickle cell disease, yet routinely used techniques such as Transcranial Doppler (TCD), Magnetic Resonance (MRI) and Angiography (MRA), insufficiently explain the cause of poor cognitive performances. Forty children with SS-Sβ° (mean age 8 years) underwent neurocognitive evaluation and comprehensive brain imaging assessment with TCD, MRI, MRA, Resting State (RS) Functional MRI with evaluation of the Default Mode Network (DMN). Sixteen healthy age-matched controls underwent MRI, MRA and RS functional MRI.Children with SCD display increased brain connectivity in the DMN even in the absence of alterations in standard imaging techniques. Patients with low neurocognitive scores presented higher brain connectivity compared to children without cognitive impairment or controls, suggesting an initial compensatory mechanism to maintain performances. In our cohort steady state haemoglobin level was not related to increased brain connectivity, but SatO2<97% was. Our findings provide novel evidence that SCD is characterized by a selective disruption of connectivity among relevant regions of the brain, potentially leading to reduced cognition and altered functional brain dynamics. RS functional MRI could be used as a useful tool to evaluate cognition and cerebral damage in SCD in longitudinal trials.