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Aim: To evaluate the role of parental magnetic resonance imaging (MRI) in assessing fetuses with suspected brain anomalies and its use in prenatal counselling., Method: A retrospective, multicentre chart review was conducted on fetuses who underwent brain MRI because of suspected brain abnormalities between January 2008 and December 2022, with one or both parents who underwent brain MRI (MRI-Trio) as part of prenatal counselling. Clinical and demographic data were collected, including fetal and parental MRI findings, prenatal counselling outcomes, genetic testing results, family and previous pregnancy history, neurological examinations of the born children up to 24 months of age, and autopsy reports of fetuses from terminated pregnancies. MRI-Trio concordance was defined as at least one abnormal brain feature identified with similarity in the fetus and the parents. The live-born children were assessed postnatally through either neurodevelopmental evaluations or telephone interviews., Results: Sixty pregnancies were included (41.7% with concordant and 58.3% with discordant MRI-Trio). Forty-two children were born (70%) and 17 pregnancies were terminated (28.3%). One case of in utero fetal death (1.7%) was reported. The most common brain findings were multiple anomalies (n = 26, 43.3%), isolated disorders of the corpus callosum (n = 17, 28.3%), atypical periventricular pseudocysts (n = 6, 10%), and anomalies of the anterior complex (n = 4, 6.7%). MRI-Trio enabled better prognostication. When MRI-Trio was concordant, counselling was more favourable (n = 22, 36.6%) and the majority of live-born children exhibited typical development (p < 0.001)., Interpretation: MRI-Trio is a valuable tool for identifying dominantly inherited brain anomalies that may not hold developmental significance or are associated with favourable outcomes, acknowledging the potential for variable penetrance, which may result in more severe presentations. Concordant MRI-Trio findings can enhance the accuracy of prenatal counselling, potentially reducing the incidence of termination of pregnancy., (© 2024 The Author(s). Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.)

Hydrocephalus is rarely described in Joubert-Boltshauser syndrome (JBTS). The aim of this study was to investigate whether this association is a chance occurrence or potentially signifies a new phenotypic subtype. The databases of Wolfson Medical Center, Sourasky Medical Center, and EB's personal collection were reviewed. Records from an additional family were obtained from RG. The patients' medical records, prenatal ultrasounds, and magnetic resonance imaging were assessed. In addition, we reviewed the medical literature for the association of ventriculomegaly/hydrocephalus (VM/HC) in JBTS. Only seven cases (from five families) were found with prenatal onset of VM/HC, diagnosed during the second trimester; three pregnancies were terminated, one was stillborn and three were born, of which one died within a week, and another died at the age of 6 years. Additional central nervous system findings included dysgenesis of the corpus callosum, delayed sulcation, polymicrogyria, and pachygyria. We found 16 publications describing 54 patients with JBTS and VM/HC: only five were diagnosed at birth and three were diagnosed prenatally. Hydrocephalus is extremely rare in JBTS. The recurrence of this association, reported in several publications in multiple family members, suggests that it might represent a new phenotypic subtype of JBTS possibly associated with specific genes or variants. Further genetic studies are needed to confirm this hypothesis. WHAT THIS PAPER ADDS: The association of fetal hydrocephalus with Joubert-Boltshauser syndrome (JBTS) is very rare but not a chance association. This association represents a new phenotypic subtype of JBTS possibly linked to specific genes or variants., (© 2024 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.)

Purpose: The study aimed to evaluate the causes of death and associated factors in cases of stillbirth, using post-mortem examination and applying a rigorous, evidence-based holistic approach., Methods: Our retrospective observational study included cases of autopsy following stillbirth that occurred at our tertiary medical center during a period of 8 years. Detailed up-to-date criteria that incorporate clinical reports, medical history, prenatal imaging, and histopathological findings were used to evaluate the cause of death and associated factors., Results: After applying our proposed methodology, 138 cases of stillbirth were classified into eight categories based on the causes of death. A definitive cause of death was observed in 100 (72%) cases, while 38 (28%) cases were considered unexplained. The leading cause of death was placental lesions (n = 39, 28%) with maternal vascular malperfusion (MVM) lesions being the most common (54%). Ascending infection was the second most common cause of fetal death (n = 24, 17%) and was often seen in the setting of preterm labor and cervical insufficiency., Conclusion: The largest category of cause of death was attributed to placental pathology. Using rigorous detailed up-to-date criteria that incorporate pathological and clinical factors may help in objectively classifying the cause of death., (© 2024. The Author(s).)

Introduction: The subarachnoid space (SAS) is a potential space surrounding the brain where the cerebrospinal fluid (CSF) flows. Previous work demonstrated how the SAS width changes during pregnancy and measured the normal values per gestational week., Objectives: Studying the ratio between the fetal brain volume (STV) and the SAS width (SS ratio), as measured via fetal magnetic resonance imaging (MRI) in different fetal pathologies - macrocephaly and microcephaly, and studying the correlation between this ratio and the gestational week., Methods: A retrospective study was conducted on 77 fetuses that underwent fetal MRI scans during gestational weeks 29-37, in three groups: 23 normocephaly, 27 macrocephaly, and 27 microcephaly. SAS width was measured in 10 points via fetal MRI scans, and a ratio was calculated between the width and STV., Results: The SS ratio is largest in microcephaly group and smallest in normocephaly group, with the macrocephaly group between them. All comparisons were statistically significant except between the macrocephaly and normocephaly groups. There was a strong positive correlation between SS ratio and week of gestation., Conclusions: The SS ratio is statistically different between normocephalic fetuses and fetuses with macrocephaly or microcephaly. From week 29 this ratio enlarges with gestational age., Discussion: The SAS affects the fetal head circumference, an important parameter of fetal growth, thus we decided to study the SS ratio in pathologies of the head circumference. Previous work demonstrated how the STV and the SAS width expand starting at a specific gestational age, thus the gestational week also affects the SS ratio. Summary: The SS ratio is affected by pathologies of the fetal head circumference and by gestational age.

Purpose: Fetal growth assessment is a key component of prenatal care. Sex-specific fetal brain nomograms on ultrasound are available and are clinically used. In recent years, the use of fetal MRI has been increasing; however, there are no sex-specific fetal CNS nomograms on MRI. The study aimed to assess the differences in fetal brain biometry and growth trajectories and to create population-based standards of the fetal brain on MRI., Methods: In this cross-sectional study, brain structures of singleton fetuses with normal brain MRI scans were analyzed: biparietal diameter, occipitofrontal diameter, trans-cerebellar diameter, and the corpus callosum were measured and converted into centiles. Sex-specific nomograms were created., Results: A total of 3848 MRI scans were performed in one tertiary medical center between 2011 and 2019; of them, 598 fetuses met the inclusion criteria, 300 males and 298 females between 28- and 37-weeks' gestation. Males had significantly larger occipitofrontal diameter than females (median 75%, IQR 54-88%; median 61%, IQR 40-77%) and biparietal diameter (median 63%, IQR 42-82%; median 50%, IQR 25-73%), respectively (p < 0.001). The cerebellum had the greatest growth rate, with a 1.5-fold increase in diameter between 28 and 37 weeks' gestation, with no measurement difference between the sexes (p = 0.239). No significant difference was found in the corpus callosum (p = 0.074)., Conclusion: Measuring both sexes on the same nomograms may result in over-estimation of male fetuses and under-estimation of females. We provide fetal sex-specific nomograms on two-dimensional MRI., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Aim: To assess whether microcephaly with pontine and cerebellar hypoplasia (MICPCH) could manifest in the prenatal period in patients with calcium/calmodulin-dependent serine protein kinase (CASK) gene disorders., Method: In this international multicentre retrospective study, we contacted a CASK parents' social media group and colleagues with expertise in cerebellar malformations and asked them to supply clinical and imaging information. Centiles and standard deviations (SD) were calculated according to age by nomograms., Results: The study consisted of 49 patients (44 females and 5 males). Information regarding prenatal head circumference was available in 19 patients; 11 out of 19 had a fetal head circumference below -2SD (range -4.1SD to -2.02SD, mean gestational age at diagnosis 20 weeks). Progressive prenatal deceleration of head circumference growth rate was observed in 15 out of 19. At birth, 20 out of 42 had a head circumference below -2SD. A total of 6 out of 15 fetuses had a TCD z-score below -2 (range -5.88 to -2.02)., Interpretation: This study expands the natural history of CASK-related disorders to the prenatal period, showing evidence of progressive deceleration of head circumference growth rate, head circumference below -2SD, or small TCD. Most cases will not be diagnosed according to current recommendations for fetal central nervous system routine assessment. Consecutive measurements and genetic studies are advised in the presence of progressive deceleration of head circumference growth rates or small TCD., What This Paper Adds: Progressive deceleration of fetal head circumference growth rate can be observed. A small transcerebellar diameter is an additional important manifestation. Most cases will not be diagnosed according to current recommendations for fetal central nervous system routine assessment. Consecutive measurements are advised when measurements are within the low range of norm., (© 2022 Mac Keith Press.)

Background and Purpose: Medullary tegmental cap dysplasia is a rare brainstem malformation, first described and defined by James Barkovich in his book Pediatric Neuroimaging from 2005 as an anomalous mass protruding from the posterior medullary surface. We describe the neuroimaging, clinical, postmortem, and genetic findings defining this unique malformation., Materials and Methods: This is a multicenter, international, retrospective study. We assessed the patients' medical records, prenatal ultrasounds, MR images, genetic findings, and postmortem results. We reviewed the medical literature for all studies depicting medullary malformations and evaluated cases in which a dorsal medullary protuberance was described., Results: We collected 13 patients: 3 fetuses and 10 children. The medullary caps had multiple characteristics. Associated brain findings were a rotated position of the medulla, a small and flat pons, cerebellar anomalies, a molar tooth sign, and agenesis of the corpus callosum. Systemic findings included the following: polydactyly, hallux valgus, large ears, and coarse facies. Postmortem analysis in 3 patients revealed that the cap contained either neurons or white matter tracts. We found 8 publications describing a dorsal medullary protuberance in 27 patients. The syndromic diagnosis was Joubert-Boltshauser syndrome in 11 and fibrodysplasia ossificans progressiva in 14 patients., Conclusions: This is the first study to describe a series of 13 patients with medullary tegmental cap dysplasia. The cap has different shapes: distinct in Joubert-Boltshauser syndrome and fibrodysplasia ossificans progressive. Due to the variations in the clinical, imaging, and postmortem findings, we conclude that there are multiple etiologies and pathophysiology. We suggest that in some patients, the pathophysiology might be abnormal axonal guidance., (© 2023 by American Journal of Neuroradiology.)

Background and Purpose: According to the medical literature, it is known that intrauterine growth restriction is associated with abnormal fetal brain findings. The aim of this study was to assess the volume of fetal brain structures in fetuses with intrauterine growth restriction compared with the control group and to examine the effect of intrauterine growth restriction on birth weight in relation to the effect on the volumes of these structures., Materials and Methods: This historical cohort study included 26 fetuses diagnosed with intrauterine growth restriction due to placental insufficiency. The control group included 66 fetuses with MR imaging scans demonstrating normal brain structures. The volumes of the supratentorial brain, left and right hemispheres, and the cerebellum were measured using a semiautomatic method. In addition, the cerebellum and supratentorial brain ratio was calculated. The measurements of each brain structure were then converted to percentiles according to growth curves., Results: The absolute volumes and percentiles of all brain structures examined were smaller in the intrauterine growth restriction group. All examined brain structures showed results that were statistically significant ( P < .015). There was no statistically significant difference in the cerebellum/supratentorial brain ratio ( P > .39). The difference in brain volume percentiles was statistically smaller than the difference in birth weight and birth weight percentiles (Dolberg growth curves) between the groups., Conclusions: Intrauterine growth restriction affects the volume of brain structures, as measured by quantitative MR imaging. Compared with healthy controls, the effect on birth weight was more prominent than the effect on brain structures, possibly due to the "brain-preserving" capability., (© 2022 by American Journal of Neuroradiology.)

Objective: To characterize the biometric parameters in ultrasound and brain MRI of fetuses with isolated mega cisterna magna (MCM)., Methods: Cross-sectional historical cohort study conducted at a single tertiary medical center between 2011 and 2018. All fetuses underwent US and brain MRI scans. Matching analysis was performed according to gender and gestational age., Results: The study included a total of 103 fetuses; 44 fetuses with isolated MCM in the study group, and a control group of 59 fetuses with normal CNS. The study group had larger biparietal diameter (BPD) (86 vs. 79.8 mm, p  = .001) and head circumference (HC) (318 vs. 292 mm, p  < .001) on ultrasound. On MRI, study group had larger occipitofrontal diameter (OFD) (99 vs. 92 mm, p  < .001) and BPD (77 vs. 72 mm, p  < .001). Male fetuses' prevalence was higher in the study group (77.3% vs. 47.5%). After matching 20 fetuses from each group, the study group had larger HC (310.1 versus 300.7 mm, p  = .029) and OFD (113.4 versus 108.3 mm, p  = .009) on ultrasound, and larger OFD (97.4 versus 94.6, p  = .013) on brain MRI., Conclusions: Isolated MCM may be related to other large fetal CNS biometric measurements in both ultrasound and MRI and might be influenced by fetal gender.

Objective: It is common knowledge among clinicians who treat PFAPA (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis) patients that emotional stress can trigger PFAPA attacks similarly to other autoinflammatory diseases. However, it has never been proved scientifically. Our aim was to examine whether emotional stress serves as a trigger for PFAPA attacks., Methods: Patients aged 3-12 years, with active PFAPA, from two Israeli medical centers were enrolled to this study. Patient's parents were reached via phone calls in two occasions: a stressful period related to the COVID-19 pandemic restrictions and a less stressful period. In both times they were asked to report occurrence of PFAPA attacks in the preceding 2 weeks. The relative stress levels of the two periods were validated by an emotional distress scale questionnaire. The significance level was set at 0.05., Results: Mean age was 7.28 ± 2.7 for the 99 paediatric patients enrolled in the study. Scores for the mean emotional distress questionnaire were statistically significant higher in the stressful period compared to the less stressful period (35.6 ± 8.1 vs. 32.1 ±7.7, respectively, P = 0.047). In the stressful period, 41 (38.7%) reported at least one attack during the preceding 2 weeks, compared to 24 (22.6%) in the less stressful period (p = 0.017)., Conclusion: PFAPA flares during COVID-19 outbreak are described. This study is the first to suggest that emotional stress is associated with PFAPA attacks., (© 2022. The Author(s).)

Interstitial deletions of 16q24.1-q24.2 are associated with alveolar capillary dysplasia, congenital renal malformations, neurodevelopmental disorders, and congenital abnormalities. Lymphedema-Distichiasis syndrome (LDS; OMIM # 153400) is a dominant condition caused by heterozygous pathogenic variants in FOXC2. Usually, lymphedema and distichiasis occur in puberty or later on, and affected individuals typically achieve normal developmental milestones. Here, we describe a boy with congenital lymphedema, distichiasis, bilateral hydronephrosis, and global developmental delay, with a de novo microdeletion of 894 kb at 16q24.1-q24.2. This report extends the phenotype of both 16q24.1-q24.2 microdeletion syndrome and of LDS. Interestingly, the deletion involves only the 3'-UTR part of FOXC2., (© 2022 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)

Objective: BCORL1, a transcriptional co-repressor, has a role in cortical migration, neuronal differentiation, maturation, and cerebellar development. We describe BCORL1 as a new genetic cause for major brain malformations., Methods and Results: We report three patients from two unrelated families with neonatal onset intractable epilepsy and profound global developmental delay. Brain MRI of two siblings from the first family depicted hypoplastic corpus callosum and septal agenesis (ASP) in the older brother and unilateral perisylvian polymicrogyria (PMG) in the younger one. MRI of the patient from the second family demonstrated complete agenesis of corpus callosum (CC). Whole Exome Sequencing revealed a novel hemizygous variant in NM&#95;021946.5 (BCORL1):c.796C>T (p.Pro266Ser) in the two siblings from the first family and the NM&#95;021946.5 (BCORL1): c.3376G>A; p.Asp1126Asn variant in the patient from the second family, both variants inherited from healthy mothers. We reviewed the patients' charts and MRIs and compared the phenotype to the other published BCORL1-related cases. Brain malformations have not been previously described in association with the BCORL1 phenotype. We discuss the potential influence of BCORL1 on brain development., Conclusions: We suggest that BCORL1 variants present with a spectrum of neurodevelopmental disorders and can lead to major brain malformations originating at different stages of fetal development. We suggest adding BCORL1 to the genetic causes of PMG, ASP, and CC dysgenesis., (© 2021. The Author(s), under exclusive licence to The Japan Society of Human Genetics.)

Objective: The representation of women among authors of peer reviewed scientific papers is gradually increasing. The aims of this study were to examine the trend of the proportion of women among authors in the field of rheumatology during the last two decades., Methods: Articles published in journals ranked in the top quartile of the field of rheumatology in the years 2002-2019 were analysed. The authorship positions of all authors, country of the article's source and manuscript type were retrieved by specifically designed software., Results: Overall, 153 856 author names were included in the final analysis. Of them, 55 608 (36.1%) were women. There was a significant rise in the percentage of women authors over time (r = 0.979, P <0.001) from 30.9% in 2002 to 41.2% in 2018, with a slight decline to 39.8% in 2019. There were significantly fewer women in the senior author positions compared with the first author positions (24.3% in senior position vs 40.9% as first author, P <0.001)., Conclusion: The proportion of women among authors of rheumatology articles has increased over the years, both in general and as a first or senior author; however, their proportion is still <50% and there is still a gap between the proportion of women among first authors and the proportion of women among senior authors., (© The Author(s) 2021. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For permissions, please email: journals.permissions@oup.com.)

Background and Purpose: Definitions of fetal microcephaly and macrocephaly are debatable. A better understanding of their long-term prognoses would help guide parental education and counseling. This study aimed to explore the correlation between 2D and 3D fetal brain MR imaging biometry results and the long-term neurodevelopmental outcomes., Materials and Methods: This analysis is a historical cohort study. Fetal brain biometry was measured on 2D and 3D MR imaging using a volumetric MR imaging semiautomated algorithm. We measured and assessed the following brain structures: the supratentorial brain volume and cerebellar volume and cerebellar volume/supratentorial brain volume ratio, in addition to commonly used 2D brain MR imaging biometric variables, including occipitofrontal diameter, biparietal diameter, and transcerebellar diameter. Microcephaly was defined as ≤ 3rd percentile; and macrocephaly, as ≥ 97th percentile, corresponding to -2 SDs and +2 SDs. The neurodevelopmental outcome of this study cohort was evaluated using the Vineland-II Adaptive Behavior Scales, and the measurements were correlated to the Vineland standard scores., Results: A total of 70 fetuses were included. No significant correlation was observed between the Vineland scores and either the supratentorial brain volume, cerebellar volume, or supratentorial brain volume/cerebellar volume ratio in 3D or 2D MR imaging measurements, after correction for multiple comparisons. No differences were found among fetuses with macrocephaly, normocephaly, or microcephaly regarding the median Vineland standard scores., Conclusions: Provided there is normal brain structure on MR imaging, the developmental milestone achievements in early years are unrelated to 2D and 3D fetal brain MR imaging biometry, in the range of measurements depicted in this study., (© 2021 by American Journal of Neuroradiology.)

Annual influenza epidemics are associated with high morbidity and mortality worldwide, with vaccinations being the main preventive intervention; however, the compliance rate of health care employees remains low. Study aims were to examine vaccination rates among physicians and nurses in surgical and medicine wards, compare between medium and large tertiary hospitals, and identify factors associated with increased vaccination rates. Structured questionnaires were distributed. A total of 238/339 (70.2%) were vaccinated. In multivariate analysis, respiratory illness during precedent winter (odds ratio [OR] 3.146, P = .007), working in a medium hospital (OR 2.4, P = .003), and an attending resident with an infectious diseases subspecialty (OR 20.473, P = .007) were associated with a higher vaccination rate. Institutional email or portal messages were associated with decreased vaccination rates (OR = 0.259, P = .007). The leading reason for vaccination was "to stay healthy" (73.5%). Recruiting experts in the field, providing up-to-date information, and increasing management's involvement could encourage vaccination among health care employees., (Copyright © 2021 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.)

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is transmitted mainly via respiratory droplets. A key question in the coronavirus disease 2019 pandemic is whether SARS-CoV-2 could be transmitted via the airborne route as well. We report for the first time SARS-CoV-2 nosocomial infections despite using surgical masks and physical distancing. This report may provide possible evidence for airborne transmission of SARS-CoV-2., (© The Author(s) 2021. Published by Oxford University Press on behalf of Infectious Diseases Society of America.)

Purpose: Measurement of the fetal brain can be achieved by different modalities, we aimed to assess the agreement between these methods and the head circumference at birth., Methods: A retrospective study conducted between 2011-2018 at a tertiary referral medical center. Sonographic head circumference (HC), 2D MRI bi-parietal diameter (BPD) and occipito-frontal diameter (OFD), 3D MRI supra-tentorial volume (STV), and head circumference (HC) at birth were measured and converted into centiles according to gestational age. Spearman's rank correlation coefficient was used to assess the correlation between the modalities., Results: A total of 88 fetuses were included. Mean gestational age at the time of fetal US and brain MRI acquisition were 34.4 ± 2.8 and 34.6 ± 2.6 weeks, respectively. A correlation was found between prenatal sonographic HC and the 3D MRI STV centiles (Rs = 0.859, p < 0.001), the BPD in 2D MRI (Rs = 0.813, p < 0.001), and the OFD in 2D MRI (Rs = 0.840, p < 0.001). Sonographic HC, OFD on 2D MRI, and STV on 3D MRI were all found to be correlated with the HC at birth (Rs = 0.865, p < 0.001; Rs 0.816, p < 0.001; Rs = 0.825, p < 0.001, respectively)., Conclusions: There is a statistically significant agreement among the different prenatal clinically used modalities for measuring fetal brain and the head circumference at birth, however, this correlation is not perfect. Further study is needed to investigate the long-term prognosis of these fetuses., (Copyright © 2020 Elsevier B.V. All rights reserved.)

Purpose: To characterize the population of women who underwent mid-trimester preterm premature rupture of membrane (PPROM) in a country where mid-trimester abortions are legal and available., Methods: A retrospective cross-sectional cohort study was conducted at a tertiary referral hospital, during 2013-2016. Mid-trimester defined as gestational age 13 + 0 to 23 + 6 weeks. Rupture of membrane was defined by documentation of fluid passing through the cervix on sterile speculum examination, and a positive Nitrazine (Bristol-Myers Squibb, Princeton, NJ) or erning test. All records were evaluated for medical history, laboratory data, postnatal examination, and autopsy findings, and a database was constructed., Results: A total of 61 women were hospitalized for mid-trimester PPROM during the study period. Mean maternal age was 32 ± 5.98, range 20-45 years old. The majority (50, 82%) of patients decided to terminate their pregnancy before reaching the limit of viability at 24 weeks gestation. The overall prognosis of pregnancies reaching term was better than expected, with six (9.8%) patients delivering live babies and four of them born at term (36 ± 5 to 40 ± 6 weeks gestation), all after PPROM following amniocentesis or selective fetal reduction. A total of 60% of women with hypothyroidism had unbalanced TSH levels above 4.0 mIU/L prior to their pregnancy. A notable number of women (15, 24.6%) had PPROM following a pregnancy achieved by assisted reproductive technology (ART)., Conclusions: Most women with diagnosed mid-trimester PPROM opted for pregnancy termination before the limit of viability when granted the choice. Possible risk factors for early PPROM are unbalanced hypothyroidism and ART. PPROM following amniocentesis can in some cases reseal and reach term, suggesting conservative treatment is a reasonable management for those cases.

Pontocerebellar hypoplasia (PCH) encompasses a group of neurodegenerative disorders. There are ten known subtypes with common characteristics of pontine and cerebellar hypoplasia or atrophy, neocortical atrophy, and microcephaly. PCH is associated with anterior horn cell degeneration in PCH1a and PCH1b due to mutations in the VRK1 and EXOSC3 genes. Late onset PCH1 has been described in single case reports. The molecular etiology remains mostly unknown. We describe two siblings from a consanguineous Moslem Arabic family with a unique combination of progressive cerebellar atrophy and a SMA-like anterior horn cell degeneration due to a homozygous mutation in the PLA2G6 gene (NM&#95;003560.2). The PLA2G6 gene encodes phospholipase A2 beta, which is involved in the remodeling of membrane phospholipids, signal transduction and calcium signaling, cell proliferation and apoptosis. Mutations in PLA2G6 are known to cause Neurodegeneration with brain iron accumulation 2 (NBIA2): Our patients have some similarities with NBIA2; both are characterized by rapidly progressive psychomotor regression and cerebellar atrophy. However, NBIA2 is not known to exhibit anterior horn cell degeneration. Our patients' phenotype is more consistent with late onset PCH1; thus, indicating that the spectrum of clinical and radiological presentations of PLA2G6 mutations should be extended and that this gene should be included in the molecular evaluation of patients with late onset PCH1., Competing Interests: Declaration of competing interest The authors declare they have no conflict of interest., (Copyright © 2019. Published by Elsevier Masson SAS.)

Epilepsy and intracranial pressure (ICP) can be interrelated. While shunt malfunction is recognized as a cause of seizures, shunt over-drainage is seldom reported as such. We report a child who had undergone ventriculoperitoneal shunt insertion at the age of 6 months following an excision of a left ventricle choroid plexus papilloma, who developed refractory epilepsy since the age of 3 years. An MRI showed small ventricles. The child presented with acute hydrocephalus due to proximal shunt malfunction at the age of 11 years and was treated with an endoscopic third ventriculostomy. Following the procedure, the seizures abated. Our case suggests that intractable epilepsy may be related to intracranial hypotension. Potential treatments for shunt over-drainage may be indicated even in the absence of classic over-drainage symptoms, in the presence of refractory epilepsy.

Two spatial tasks were designed to test specific properties of spatial representation in rats. In the first task, rats were trained to locate an escape hole at a fixed position in a visually homogeneous arena. This arena was connected with a periphery where a full view of the room environment existed. Therefore, rats were dependent on their memory trace of the previous position in the periphery to discriminate a position within the central region. Under these experimental conditions, the test animals showed a significant discrimination of the training position without a specific local view. In the second task, rats were trained in a radial maze consisting of tunnels that were transparent at their distal ends only. Because the central part of the maze was non-transparent, rats had to plan and execute appropriate trajectories without specific visual feedback from the environment. This situation was intended to encourage the reliance on prospective memory of the non-visited arms in selecting the following move. Our results show that acquisition performance was only slightly decreased compared to that shown in a completely transparent maze and considerably higher than in a translucent maze or in darkness. These two series of experiments indicate (1) that rats can learn about the relative position of different places with no common visual panorama, and (2) that they are able to plan and execute a sequence of visits to several places without direct visual feed-back about their relative position.