IntroductionThe gold standard for diagnosing central precocious puberty(CPP) is the gonadotropin-releasing hormone stimulation test, along with magnetic resonance imaging(MRI) of the brain and hypothalamus-pituitary region to rule out central organic causes. Recent advancements have led to a new medical imaging approach called radiomics. Our recent study showed that pituitary gland radiomics is a promising tool for diagnosing CPP. However, the role of the pineal gland in the onset of puberty has long been debated. Therefore, we investigated radiomic features of the pineal gland associated with puberty onset to identify changes that could assist physicians in the diagnostic workup of CPP.Methods45 girls with a confirmed diagnosis of CPP and 47 pre-pubertal, age-and sex-matched subjects(controls) were retrospectively enrolled. Two readers(R1, R2) with different levels of expertise in pediatric neuroradiology blindly segmented the pineal gland on MRI studies for radiomic features(RFs) calculation and manually evaluated the number and diameter of pineal cysts. Cross-validated linear discriminant analysis was used to develop, for each reader, both a radiomic model and a reference model based on pineal cyst features. Radiomics was evaluated in terms of predictive performances(ROC-AUC) and reliability of predictors between readers (intraclass correlation coefficient). Finally, the correlation between cysts' features and basal/peak gonadotropin and estradiol levels was also investigated.ResultsTwo radiomic features were identified as the most predictive of CPP for both readers. However, these features were not the same for R1 and R2 readers and their values showed poor inter-reader reliability. Unpromising performance in the validation set was observed for pineal gland radiomics (ROC-AUC of 0.64 for R1 and 0.59 for R2). Similarly, the reference model based on pineal cyst features demonstrated a poor performance (ROC-AUC = 0.52, both readers). No significant correlations between cyst features and basal/peak gonadotropin levels were observed.ConclusionRadiomic features of the pineal gland in girls did not show consistent and relevant changes with the onset of puberty and do not hold promise for the CPP diagnosis at variance with previous findings in the pituitary gland. Similarly, the number and size of cysts were not found to be specific for the onset of puberty.

Primary intraosseous meningiomas (PIOMs) are rare extradural meningiomas, originating within the skull, and accounting for approximately 2

Background: TCF20-associated neurodevelopmental disorder (TCF20-NDD) is a heterogeneous clinical condition resulting from defects in gene-encoding Transcription Factor 20, which plays a key role in neuronal development and synaptic function. Here, we present a novel case involving an 11-year-old boy who was referred to us for a neuro-developmental disorder characterized by attention deficit hyperactivity disorder (ADHD), tremor in the upper limbs, tilted head posture, motor delay, impaired executive functioning, and oculomotor dyspraxia. Methods: Genetic tests were performed, including CGH array, molecular analysis of the FMR1 gene, molecular analysis using a next-generation sequencing gene panel targeted for spinocerebellar diseases, and finally, WES including mitochondrial genome analysis. A neuroimaging study of brain and spine was performed using MRI. Results: Trio Whole Exome Sequencing revealed a de novo pathogenic frameshift variant NM_001378418.1:c.5009dup, p.(Thr1671Aspfs*5) in the TCF20 gene. The MRI scan of the brain, cervical, dorsal, and lumbosacral spine revealed Chiari type I malformation. Regarding the pathogenic mechanism underlying Chiari I malformation, it could be found in the homology between TCF20 and the RAI1 gene, the latter being associated with alterations in the posterior cranial fossa. Conclusions: We emphasize the use of exome sequencing in patients with unclear clinical presentations, with awareness of TCF20-associated neurodevelopmental disorder; paying attention to brain MRI findings would be useful to further expand the phenotype of TCF20-NDD.

BackgroundThe aim of the study was to explore a radiomic model that could assist physicians in the diagnosis of central precocious puberty (CPP). A predictive model based on radiomic features (RFs), extracted form magnetic resonance imaging (MRI) of the pituitary gland, was thus developed to distinguish between CPP and control subjects.Methods45 girls with confirmed diagnosis of CPP (CA:8.4 ± 0.9 yr) according to the current criteria and 47 age-matched pre-pubertal control subjects (CA:8.7 ± 1.2 yr) were retrospectively enrolled. Two readers (R1, R2) blindly segmented the pituitary gland on MRI studies for RFs and performed a manual estimation of the pituitary volume. Radiomics was compared against pituitary volume in terms of predictive performances (metrics: ROC-AUC, accuracy, sensitivity and specificity) and reliability (metric: intraclass correlation coefficient, ICC). Pearson correlation between RFs and auxological, biochemical, and ultrasound data was also computed.ResultsTwo different radiomic parameters, Shape Surface Volume Ratio and Glrlm Gray Level Non-Uniformity, predicted CPP with a high diagnostic accuracy (ROC-AUC 0.81 ± 0.08) through the application of our ML algorithm. Anthropometric variables were not confounding factors of these RFs suggesting that premature thelarche and/or pubarche would not be potentially misclassified. The selected RFs correlated with baseline and peak LH (p < 0.05) after GnRH stimulation. The diagnostic sensitivity was improved compared to pituitary volume only (0.76 versus 0.68, p<0.001) and demonstrated higher inter-reader reliability (ICC>0.57 versus ICC=0.46).DiscussionRadiomics is a promising tool to diagnose CPP as it reflects also functional aspects. Further studies are warranted to validate these preliminary data.

ABSTRACT Objective to describe the normal features of the caudo‐thalamic groove at antenatal brain ultrasound in a group of structurally normal fetuses at third trimester and to report a small series of cases with abnormal appearance of the caudothalamic groove at antenatal brain ultrasound. Methods This was an observational study conducted at two referral Fetal Medicine units. A non‐consecutive cohort of pregnant women with a singleton non anomalous pregnancy were prospectively recruited and underwent 3D ultrasound of the fetal brain at 28‐32 weeks. At offline analysis the ultrasound volumes were adjusted in the multiplanar mode according to a standardized methodology, until the caudothalamic groove was visible on the parasagittal plane. To evaluate the inter‐observer agreement, two operators were independently asked to indicate if the caudothalamic groove was visible unilaterally or bilaterally on each volume. The digital archives of the two Centres were also retrospectively searched to retrieve cases with abnormal findings at the level of the caudothalamic groove at antenatal brain ultrasound which were postnatally confirmed. Results 180 non‐consecutive cases fulfilling the inclusion criteria were prospectively included. At offline analysis of the 3D US volumes the caudo‐thalamic groove was identified on the parasagittal plane by both operators at least unilaterally in 176 cases (97.8%) and bilaterally in 174 cases (96.6%). The K‐coefficient for the agreement between the two independent operators in recognizing the caudo‐thalamic groove was 0.89 and 0.83 on one and both hemispheres respectively. At the retrospective search of our archives 5 cases with abnormal appearance of the groove at antenatal brain ultrasound (2 haemorrhage and 3 cyst) were found. Conclusion Our study has demonstrated that the caudo‐thalamic groove is consistently seen among normal fetuses at third trimester submitted to multiplanar neurosonography and that abnormal findings at this level may be antenatally detected. This article is protected by copyright. All rights reserved.

ObjectivesTo describe the sonographic features of the caudothalamic groove in the third trimester of pregnancy in a group of structurally normal fetuses and to report a small series of cases with abnormal appearance of the caudothalamic groove at antenatal cranial ultrasound.MethodsThis was an observational study conducted at two fetal medicine referral units in Italy. A non-consecutive cohort of pregnant women with a singleton non-anomalous pregnancy were recruited prospectively and underwent three-dimensional (3D) ultrasound assessment of the fetal brain at 28-32 weeks' gestation. At offline analysis, the ultrasound volumes were adjusted in the multiplanar mode, according to a standardized methodology, until the caudothalamic groove was visible in the parasagittal plane. To evaluate interobserver agreement, two operators were asked independently to indicate if the caudothalamic groove was visible unilaterally or bilaterally on each volume and Cohen's kappa (kappa) coefficient was calculated. The digital archives of the two centers were also searched retrospectively to retrieve cases with abnormal findings at the level of the caudothalamic groove on antenatal cranial ultrasound that were confirmed postnatally.ResultsA total of 180 non-consecutive cases were included. At offline analysis of the 3D ultrasound volumes, the caudothalamic groove was identified in the parasagittal plane by both operators at least unilaterally in 176 (97.8%) cases and bilaterally in 174 (96.7%) cases. The kappa-coefficient for the agreement between the two independent operators in recognizing the caudothalamic groove was 0.89 and 0.83 for one and both hemispheres, respectively. The retrospective search of our archives yielded five cases with an abnormal appearance of the caudothalamic groove at antenatal cranial ultrasound, including two cases of hemorrhage and three cases of cyst.ConclusionsThe caudothalamic groove is consistently seen in normal fetuses on multiplanar neurosonography in the third trimester, and abnormal findings in this region may be detected antenatally. (c) 2024 International Society of Ultrasound in Obstetrics and Gynecology.

Myelin oligodendrocyte glycoprotein (MOG)-IgG-associated disease (MOGAD) is a relatively uncommon autoantibody demyelinating disorder of the central nervous system (CNS) with heterogeneous clinical manifestations and magnetic resonance imaging (MRI) findings. In recent years, a rare MOGAD subtype characterized by distinct clinical and MRI findings has been described. Seizures and cortical hyperintensities best seen on MRI T2-weighted fluid-attenuated inversion recovery (FLAIR) sequences, associated with headache and cerebral spine fluid (CSF) pleocytosis, are the most important characteristics of this MOGAD entity that is named FLAMES (FLAIR hyperintense cortical lesions in MOG-associated encephalitis with seizures). Because of its rarity and the peculiarities of the brain damage and clinical manifestations, it can be under-recognized and confused with focal viral encephalitis, meningitis, subarachnoid hemorrhage, CNS vasculitis, or mitochondrial cytopathy. We described the case of a 4-year-old previously healthy girl who was admitted for focal-onset, tonic-clonic seizures, fever, and headache, combined with optic neuritis. MRI was characterized by FLAIR imaging showing hyperintense cortical lesions, and a mild leukocytosis in the CSF was detected. Efficacy and rapid response to steroid therapy was observed, and no recurrences of neurological problems or further seizures were reported in the following 12 months. This case report can help in understanding FLAMES characteristics in pediatrics in order to favor early diagnosis and prompt therapy.

BACKGROUND:Agenesis of the corpus callosum is associated with several malformations of cortical development. Recently, features of focal cortical dysgyria have been described in fetuses with agenesis of the corpus callosum.OBJECTIVE:This study aimed to describe the "cortical invagination sign," a specific sonographic feature of focal cortical dysgyria, which is consistently seen at midtrimester axial brain ultrasound in fetuses with complete agenesis of the corpus callosum.STUDY DESIGN:This was a retrospective analysis of prospectively collected data from 2018 to 2021, including patients referred to 5 fetal medicine centers in the second trimester of pregnancy (19 0/7 to 22 0/7 weeks of gestation) with suspected complete agenesis of the corpus callosum. All cases with the diagnosis of complete agenesis of the corpus callosum were submitted to an axial sonographic assessment of the fetal brain on the transventricular plane. In this scanning section, the mesial profile of both cerebral hemispheres at the level of the frontal-parietal cortex was investigated. In this area, the operator looked for an abnormal invagination of the cortical surface along the widened interhemispheric fissure, which was referred to as the "cortical invagination sign." All fetuses were submitted to dedicated antenatal magnetic resonance imaging to reassess the ultrasound findings. Cases with additional brain anomalies, which did not involve the cortex, were excluded. The final diagnosis was confirmed at postnatal brain magnetic resonance imaging or postmortem examination, for cases undergoing termination of pregnancy. The primary outcome of this study was to evaluate the presence and laterality of the "cortical invagination sign" in fetuses with complete agenesis of the corpus callosum at antenatal ultrasound and magnetic resonance imaging.RESULTS:During the study period, 64 cases of complete agenesis of the corpus callosum were included; of those cases, 50 (78.1%) resulted in termination of pregnancy, and 14 (21.9%) resulted in a live birth. The "cortical invagination sign" was detected at ultrasound in 13 of 64 cases (20.3%) and at targeted brain magnetic resonance imaging in 2 additional cases (23.4%), all of which were electively terminated. Moreover, the "cortical invagination sign" was found to be exclusively unilateral and on the left cerebral hemisphere in all the cases. There was a predominant number, although nonsignificant, of male fetuses (80.0% of cases; P=.06) in the group of complete agenesis of the corpus callosum with the "cortical invagination sign."CONCLUSION:The "cortical invagination sign" is a specific marker of focal cortical dysgyria, which seems to characterize at midtrimester of pregnancy in a large group of fetuses with complete agenesis of the corpus callosum. The etiology, pathophysiology, and prognostic significance of this finding remain to be elucidated.

In this case report, we present the case of a 20-month-old girl who manifested paroxysmal “bidet-induced” episodes characterized by impaired awareness, pallor, and hypotonia, with a duration of less than a minute. Initial neurological examination yielded unremarkable results, prompting further investigation. A video-electroencephalogram recording documented the epileptic nature of these episodes, revealing an ictal discharge originating from the right central-temporal region. A brain magnetic resonance imaging exhibited a sulcal/gyral asymmetry within the central sulci, along with the presence of the “power button sign” within the right central sulcus. These findings were indicative of a focal cortical dysplasia type-2. Subsequent genetic analysis through a gene panel identified the presence of an NPRL2 variant. Mutations affecting this particular gene are known to disrupt the normal functioning of the GATOR1 complex, potentially causing focal cortical dysplasia and various forms of epilepsy, including familial focal epilepsy with variable foci. On the diagnosis, the patient received levetiracetam, and the ictal episodes promptly ceased. At the most recent follow-up (at 4 years old), the patient remained free of seizures without the need for any treatment, and her neurodevelopment so far had exhibited no abnormalities. Considering the landscape of epilepsy-related GATOR1 variants, it is conceivable that this gene family may play a significant role in the pathogenesis of benign forms of focal reflex seizures, including bathing epilepsy.

We report the case of a boy (aged 3 years and 7 months) with severe growth failure (length: -9.53 SDS; weight: -9.36 SDS), microcephaly, intellectual disability, distinctive craniofacial features, multiple skeletal anomalies, micropenis, cryptorchidism, generalized hypotonia, and tendon retraction. Abdominal US showed bilateral increased echogenicity of the kidneys, with poor corticomedullary differentiation, and a slightly enlarged liver with diffuse irregular echotexture. Initial MRI of the brain, performed at presentation, showed areas of gliosis with encephalomalacia and diffused hypo/delayed myelination, and a thinned appearance of the middle and anterior cerebral arteries. Genetic analysis evidenced a novel homozygous pathogenic variant of the pericentrin (PCNT) gene. PCNT is a structural protein expressed in the centrosome that plays a role in anchoring of protein complexes, regulation of the mitotic cycle, and cell proliferation. Loss-of-function variants of this gene are responsible for microcephalic osteodysplastic primordial dwarfism type II (MOPDII), a rare inherited autosomal recessive disorder. The boy died at 8 years of age as a result of an intracranial hemorrhage due to a cerebral aneurism associated with the Moyamoya malformation. In confirmation of previously published results, intracranial anomalies and kidney findings were evidenced very early in life. For this reason, we suggest including MRI of the brain with angiography as soon as possible after diagnosis in follow-up of MODPII, in order to identify and prevent complications related to vascular anomalies and multiorgan failure.

The finding of USP9X variants in females has been associated with female-restricted X-linked mental retardation (MRXS99F), a rare syndrome featured by developmental delay and distinct congenital anomalies. Here, we report a female fetus with MRXS99F due to a novel frameshift variant, c.6679_6685delAAATTATinsTCCTG (p. Lys2227SerfsTer2) in USP9X, which was present in a mosaic state in the amniocytes and in the peripheral blood after birth (14% and 30%, respectively). The X methylation status analysis displayed a partially skewed X -inactivation with 80% of inactive paternal X. The first signs of the MRXS99F were prenatally detected at 20 weeks, with an enlarged posterior cranial fossa, an upward rotation of the cerebellar vermis and partial corpus callosum agenesis, together with a cardiac septal defect and a single umbilical artery. After birth and during postnatal follow-up the anal anteriorization and the presence of a bilateral membranous choanal atresia were noted, whereas the MRI revealed the hypo/aplasia of the olfactory bulbs, a widening of the subarachnoid spaces and a delay in the myelinisation. During the 18-months follow-up a severe growth and global developmental delay, together with a bilateral moderate deafness with a threshold at 40 dB, dental enamel erosions and an initial scoliosis were observed. We report the prenatal and postnatal features of a classical MRXS99F phenotype and a mosaic USP9X frameshift variant with a partially skewed X inactivation and discuss genotype/phenotype correlations in view of the published studies so far.

Objective To evaluate the postnatal outcome of children with a prenatal diagnosis of apparently isolated agenesis of the septum pellucidum (ASP). Methods A retrospective cohort study of cases of prenatally diagnosed ASP followed in two tertiary centers and a meta-analysis combining data from the cohort study with data from published studies identified in a systematic review were carried out. Only cases with apparently isolated ASP on antenatal ultrasound and/or magnetic resonance imaging and with available postnatal follow-up data were considered eligible for inclusion. The following outcomes were analyzed: incidence of chromosomal anomalies, agreement between antenatal and postnatal findings, overall incidence of septo-optic dysplasia (SOD) and incidence of major neurological disability (motor, language, coordination or behavioral disorder or epilepsy) in non-SOD children. The incidence of SOD in infants with apparently normal optic pathways on antenatal imaging was also evaluated. Results Fifteen cases of isolated ASP, with median postnatal follow-up of 36 months (range, 12-60 months), were selected from the two centers. Six previously published studies met the inclusion criteria for the systematic review and a total of 78 cases were eligible for the analysis, including the 15 cases from our series. Genetic tests were carried out antenatally in 30 fetuses, of which two had an abnormal result (pooled proportion, 9.0% (95% CI, 1.8-20.7%); I-2 = 0%). Additional or discordant imaging findings were noted postnatally in 9/70 (pooled proportion, 13.7% (95% CI, 3.5-29.0%); I-2 = 63.9%) cases. Of all 78 neonates with available follow-up, SOD was diagnosed postnatally in 14 (pooled proportion, 19.4% (95% CI, 8.6-33.2%); I-2 = 51.2%). In 60 cases, the optic pathways were considered to be normal on antenatal imaging, and six of these (pooled proportion, 9.1% (95% CI, 1.1-24.0%); I-2 = 62.0%) were diagnosed postnatally with SOD. Of the 46 infants with available neurological follow-up who were not affected by SOD, a major neurological disability was diagnosed in three (pooled proportion, 6.5% (95% CI, 0.5-18.6%); I-2 = 40.1%). Conclusions In the vast majority of cases with a prenatal diagnosis of apparently isolated ASP, the prognosis is favorable. However, an additional anomaly is detected after birth in about 14% of cases and has a negative impact on clinical outcome. Detailed antenatal assessment of the brain and optic pathways is strongly recommended in order to identify the presence of associated anomalies. Antenatal visualization of apparently normal optic pathways does not rule out SOD. (c) 2021 International Society of Ultrasound in Obstetrics and Gynecology.

Duplication of the pituitary gland (DPG)-plus syndrome is a very rare developmental disorder with few cases described in the literature and characterized by multiple midline and central nervous system malformations. The hypothalamus and hypophysis involvement may be clinically associated with endocrine abnormalities. A 5.9-year-old female child was admitted to our Clinic for premature thelarche and acceleration of growth. DPG-plus syndrome with paired infundibula and pituitary glands was diagnosed after birth, when she appeared small for gestational age and she presented with lingual hypoplasia, cleft palate, right choanal stenosis, nasopharyngeal teratoma, and facial dysmorphisms. Neuroimaging revealed a duplication of the infundibula, the pituitary gland, and the dens of the epistropheus despite surgical removal of a rhino-pharyngeal mass performed at the age of two months. An array-CGH revealed a 2p12 deletion. At our evaluation, bone age assessment resulted advanced and initial pubertal activation was confirmed by Gonadotropin-Releasing Hormone stimulation test. Hormonal suppression treatment was started with satisfactory results. This case shows that DPG-plus syndrome must be considered in presence of midline and craniofacial malformations and endocrinological evaluations should be performed for the prompt and appropriate management of pubertal anomalies.

Objectives: To evaluate the postnatal outcome of children with prenatal diagnosis of isolated agenesis of septum pellucidum agenesis (ASP). Methods: A retrospective cohort study of cases of prenatally diagnosed ASP followed in 2 tertiary centres and a systematic review were carried out. Only cases with apparently isolated ASP at ultrasound (US) and or Magnetic Resonance Imaging (MRI) and available postnatal follow-up were considered eligible for this study. The following outcomes were analysed: agreement between antenatal and postnatal findings, incidence of chromosomal anomalies, the overall incidence of a major adverse outcome including the incidence of SOD (septo-optic dysplasia) and of major neurological disability (motor, language of behavioral disease) in non-SOD children. Results: A total of 58 cases of isolated SA were eligible for the analysis. Mean gestational age at diagnosis ranged from 20.3 to 34.0weeks. Prenatal US or MRI findings were confirmed after birth in 41/53 (77.3%) of cases while additional intracranial anomalies were detected in the remaining cases. The pooled incidence of chromosomal anomalies was 10.4% (95%CI 2.0-24.1) while the overall pooled incidence of major adverse outcome was 27.7% (CI 10.9-48.6). This latter group included 10/15 (66.7%) infants with SOD and 5/15 (33.3%) with a major neurological disability at follow-up. The pooled incidence of SOD in infants with normal optic tracts at antenatal MRI was 16.5% (95% 2.0-41.0); in 2/6 (33%) of them the optic nerves were found to be hypoplastic while in the remaining cases they were confirmed to be normal and the diagnosis of SOD was prompted by the abnormal endocrine assessment. Conclusions: Antenatal diagnosis of isolated ASP is associated with a high incidence of an adverse outcome; the antenatal visualisation of apparently normal optic tracts at MRI does not exclude a diagnosis of SOD. Objectives: Persistence beyond 28weeks/enlargement/cavitation of one or both ganglionic eminences (GEs) on fetal MR can be associated with lissencephaly. Other cause(s) have rarely been elucidated. We conducted a multicentre retrospective cohort analysis to better understand genetic causality for this finding. Methods: Waiver of full ethics application was obtained. The setting was three fetal MRI services affiliated with maternal-fetal medicine/fetal diagnostic units. The study was from January 2014 to June 2020. Search terms used to identify possible cases were ganglionic eminence, germinolytic cyst, polymicrogyria, (hemi)megalencephaly, microcephaly, tuberous sclerosis, callosal agenesis/hypogenesis, lissencephaly, tubulinopathy and micro- cephaly. Exclusions were no postnatal genetic, imaging or clinical evaluation. of abnormal GEs were identified: tubulinopathy (TUBA1A) mutations (n = 2) with VM and callosal dysgenesis on US; mTORopathies due to PI3K mutations (n = 2) with ventriculomegaly (VM) on US, including MPPH syndrome diagnosed prenatally with postaxialpolydactylyon US; tuberoussclerosis complex (n = 3), with cardiac rhabdoymyoma on US; Walker-Warburg syndrome (n = 2) with severe VM, cephalocele at US and kinked brainstem and ocular abnormality on MR; hemimegalencephaly (n = 1) with VM on US; mitochondrial disorders (2) (PDHA and ECHS1) deficiency with callosal a/dysgensis on US and GE cavitation on MR); sialidosis type II (VM, persistent Blake’s pouch and hydrops on US); bilateral perisylvian polymicrogyria on MR and VM on US with postnatal developmental delay/hypotonia/seizures and hypomelanosis of Ito (n = 1); hemispheric biometry < - 3SD, VM on US and severe undersulcation, cavitated GE and signs of fetal akinesia/dyskinesia on MR, whole-exome sequencing pending.

We investigated whether prenatal magnetic resonance imaging (MRI) within 26 weeks of gestation (GW) may predict the fate of isolated upward rotation of the cerebellar vermis (URCV). This retrospective multicentre observational study included foetuses diagnosed with isolated URCV in prenatal MRI performed within 26 GW. Isolated URCV was defined by a brainstem-vermis angle (BVA) ≥ 12° in the MR midline sagittal view without abnormalities of the supratentorial structures, brainstem, or cerebellum hemispheres. The assessments included the BVA, clival-supraoccipital angle, transverse diameter of the posterior cranial fossa, tentorial angle, width of the cisterna magna (WCM), ventricular width, vermian diameters, hypointense stripes, and cerebellar tail sign. Late prenatal or postnatal MRI was used as a reference standard to assess the final vermian fate (rotated/de-rotated). Forty-five foetuses (mean GW at prenatal MRI = 21.5 ± 1.4 weeks) were included. In the reference standard, the vermis was de-rotated in 26 cases (57.7%). At least two of the following criteria were used to predict the persistence of URCV at imaging follow-up: BVA ≥ 23°, WCM ≥ 9 mm, and the cerebellar tail sign. The results were a sensitivity of 84.21% (95% CI, 60.4–96.6%), specificity of 80.8% (95% CI, 60.6–93.4%), positive predictive value of 76% (95% CI, 58.7–87.8%), and negative predictive value of 87.5% (95% CI, 70.9–95.2%). MRI within 26 GW on foetuses diagnosed with isolated URCV may predict delayed cerebellar vermis de-rotation, which is associated with good neurodevelopmental outcome in most cases. • Foetal MRI is a valuable tool in predicting the fate of isolated upward-rotated cerebellar vermis. • A wider angle between the brainstem and vermis is associated with higher risk of persistence of vermian rotation. • The presence of ≥ 2 factors among a brainstem-to-vermis angle ≥ 23°, width of the cisterna magna ≥ 9 mm, and the presence of the “cerebellar tail sign” has a sensitivity of 84.21% (95% CI, 60.4–96.6%) and specificity of 80.8% (95% CI, 60.6–93.4%) in predicting the persistence of the vermian rotation at imaging follow-up.

We describe a case of a 47-year-old Italian, immunocompromised, and obese woman infected by COVID-19 presenting with fever (39.6 °C) and respiratory symptoms. Neurological examination was normal. Chest CT findings consist of bilateral interstitial pneumonia (visual score extension: 30%). The patient was treated with antiviral drugs and anti-inflammatory drugs with supportive care. Seven days after admission to Covid-19 Unit, the patient rapidly developed worsening respiratory failure and acute respiratory distress syndrome (ARDS). She suddenly developed partial left hemispheric syndrome. A new HRCT scan of her thorax revealed diffuse ground-glass opacities in both lungs (visual score extension: 90%). Brain CT performed 2 h after sudden-onset left-sided weakness showed subtle low attenuation within the right insular ribbon and frontal lobe (ASPECT Score 8). Multiphasic CT angiography (MCTA) demonstrated occlusion of both the dominant inferior division of the right middle cerebral artery and the A2 segment of the right anterior cerebral artery. After 24 h, her pupils became dilated and unreactive, and brain CT demonstrated large bilateral infarctions of both the cerebellar and cerebral hemispheres. She had a rapid progression of interstitial pneumonia from COVID-19, developed multiple strokes, and died 1 day later. SARS-CoV-2 infection seems to predispose pluripathological subjects to cerebrovascular complications.

BACKGROUND:In children, when unresponsive neck rigidity and distress are observed after ear, nose and throat (ENT) surgical treatment or nasopharyngeal inflammation, Grisel's syndrome should be suspected. This is a rare syndrome involving non-traumatic rotatory subluxation of the atlantoaxial joint. Conservative management with external cervical orthoses and empirical antibiotic, muscle relaxant and analgesic therapy should be the first choice of treatment. Surgical stabilization is indicated when high-grade instability or failure of stable reduction are observed. The instability is graded according to the classification system devised by Fielding and Hawkins. Several recommendations for treatment are available in the literature, but there are no common guidelines. In this paper, the authors discuss the need for prompt diagnosis and treatment considerations.CASE DESCRIPTION:Five children with Fielding type I-III rotatory subluxation are reported. Three patients were treated with a cervical collar, and one patient was treated with skull traction and sternal-occipital-mandibular immobilizer (SOMI) brace application. Surgical treatment was necessary for one patient after failure of initial conservative management. The intervals between the onset of torticollis and radiological diagnosis ranged from 12 to 90 days. A relationship between an increased grade of instability and delayed diagnosis was observed.CONCLUSION:In children with painful torticollis following ENT procedures or nasopharyngeal inflammation, Grisel's syndrome should always be suspected. Cervical magnetic resonance imaging (MRI) allows prompt and safe diagnosis, and a three-dimensional computed tomography (CT) scan provides better classification of the instability. Surgery, which is indicated in cases of high-grade instability or failure of conservative treatment, may be avoided with prompt diagnosis.

Transient Cerebral Arteriopathy (TCA) is one of the main causes of childhood stroke. Here we present an unusual case of Arterial Ischemic Stroke (AIS) caused by a TCA of posterior flow and originally located in the right thalamus. The detection of enterovirus in the cerebrospinal fluid allowed us to suppose a probable post infectious etiology. The course of symptoms was self-limited and the child had a complete clinical recovery after five days. A new ischemic lesion on the antero-inferior paravermian region of the left cerebellum was revealed by a following brain Magnetic Resonance Imaging (MRI) three months later and these findings were reported by further brain MRI control performed after 15 months. Comparing follow up Magnetic Resonance Angiography (MRA) with previous High Resolution Vessel Wall Magnetic Resonance Imaging (HRMI), we found a vessel narrowing at the level of the Posterior Inferior Cerebellar Artery that might explain the arteriopathy process. In conclusion, clinical and radiological course allow us to speculate that this multifocal cerebral arteriopathy might be a transient lesion due to enterovirus infection. To our knowledge, there are only three articles describing TCA enterovirus-related, and brain MRA was performed in only one case; in addition, no one with the involvement of the posterior circulation.