Congenital Central Nervous System Research Articles

Risk factors associated with congenital central nervous system abnormalities in the National Hospital of Zinder, Niger

IntroductionCongenital malformations of the central nervous system (CNS) are morphological abnormalities of the brain and spinal cord that occur during fetal development. They constitute the second most common congenital disability, after congenital cardiac defects. Many risk factors have been identified; however, these studies included various types of congenital abnormality. Furthermore, there is a lack of information on risk factors for congenital CNS malformation, and notably in the Zinder region of Niger. ObjectiveThis study aimed to identify the risk factors associated with congenital CNS malformations in the Zinder region. MethodsIn a case-control design, patients with congenital CNS malformation were enrolled between June 2022 and April 2023 in the Department of Neurosurgery of the National Hospital of Zinder. ResultsFamily history of malformation (aOR:3.31, 95% CI:1.25−8.78) and consanguine marriage (aOR:2.28, 95% CI:1.23−4.20) were significantly associated with congenital CNS malformation. In contrast, folic acid supplementation (aOR:0.34, 95% CI:0.13, 0.89), multiparity (aOR:0.34, 95% CI:0.13, 0.89), and grand multiparity (aOR, 0.47; 95% CI:0.23, 0.97) had a protective effect. ConclusionRisk factors such as family malformation history and consanguine marriage increased the risk of developing congenital malformations of the central nervous system. In contrast, folic acid supplementation in the index period and multiparity had a significant protective effect.

Radiation-induced Bystander Effects on Glioblastoma Tumor Cells via NMDA Receptor Signaling.

Proton therapy has been widely applied on treating inaccessible and inoperable tumors, such as tumors deep within the brain or close to the critical brain stem. Nevertheless, the damaging effect of radiation for central nervous system (CNS) tumors is difficult to be confined within the irradiated region and has led to decline of neurological function in especially children with congenital CNS tumors. Currently, the involvement of n-methyl-d-aspartate (NMDA) receptors or secretary cytokines and chemokines in proton-induced bystander effects remains unclear. To understand the modulatory effects of NMDA receptor inhibition on the survival and proliferation of glioblastoma-derived cells, mesenchymal-like U373 cells were applied along with U87 neural glioblastoma cells for single doses of proton radiation at different LET in the presence or absence of pretreatment with memantine and/or collimation. Under collimation, neuronal tumor cells that are not directly irradiated (i.e., bystander cells) encounter similar biological effects potentially through cell coupling and synaptic transmission. Furthermore, whether proton LET plays a role in the mediation of bystander effect awaits to be elucidated. From this study, synaptic transmission was found to play differential roles in the proliferation of U373 and U87 cells after exposure to collimated radiation. Also, radiation-induced cell proliferation at the late stage was more correlated with bystander cell survival than early manifested γH2AX foci, suggesting that proton-induced glutamatergic synapse may act as a more important contributor than proton-induced direct effect on DNA double-stranded breaks to the late-stage responses of glioblastoma cells.

Intriguing Cases of Rare Malignancies of Childhood and Adolescence- A Series of Six Cases

Intracranial teratomas constitute the majority of congenital Central Nervous System (CNS) germ cell tumours. Pure mature or immature teratomas present with giant intracranial masses that cause irreversible brain damage and impair the quality of life. Two such cases are reported here: the first involves a four-month-old female infant with a large right hemispheric lesion, and the second involves a three-month-old female infant with a similar large right hemispheric space-occupying lesion. Both underwent craniotomy but ultimately succumbed to death within a few days after the operation. Immature teratomas of the ovaries are the second most common malignant germ cell tumour following dysgerminoma, with good prognosis and excellent overall survival rates. One such case is presented here, involving a 16-year-old adolescent female with a history of irregular and painful menstruation presenting with a large abdomino-pelvic mass that was determined to be of ovarian origin through imaging studies. Alveolar Soft Part Sarcoma (ASPS) is a rare soft-tissue sarcoma with a poor prognosis, demonstrated in a 17-year-old girl who presented with a painless left thigh mass that was clinically misdiagnosed as a benign intramuscular lipoma. Another case involves a 14-year-old boy with Ewing sarcoma of the ring finger, an extremely rare hand tumour with a high potential for misdiagnosis and delayed treatment, accompanied by a focus of pulmonary metastasis. The final case involves a poorly differentiated carcinoma of the Ileum in a 17- year-old girl who was eventually lost to follow-up checkups.

A novel pathogenic variation of DOCK6 gene: the genotype-phenotype correlation in Adams-Oliver syndrome.

Adams-Oliver syndrome (AOS) (#614,219) is a multiple malformation disorder characterized by the presence of aplasia cutis congenita (ACC) and transverse terminal limb defects (TTLD). We describe a confirmed case of AOS with a novel pathogenic variation in Dedicator Of Cytokinesis 6 (DOCK6) gene, with neurological abnormalities, characterized by the presence of a multiple malformation entity with extensive cardiological and neurological abnormalities. In AOS, genotype-phenotype correlations have been described. DOCK6 mutations appear to be related with congenital cardiac and central nervous system malformations associated with intellectual disability, as illustrated in the present case.

Maternal Diabetes, Respiratory and other Disorders in Offspring: Shortterm and Long-term Outcomes

Abstract: Maternal diabetes during pregnancy, regardless of the type, is a risk factor for macro-somia or excessive fetal growth. Macrosomia and subsequent complications are the main short-term consequences of intrauterine exposure to gestational diabetes mellitus (GDM). Additionally, they have an increased risk of neonatal complications, such as congenital heart defects (CHDs) and cen-tral nervous system (CNS) congenital birth defects, hyperbilirubinemia, hypoglycemia, hypocalce-mia, and polycythemia with their subsequent complications. More and more indisputable data are evidencing long-term consequences on offspring health in the case of diabetes. While most of this research has focused on metabolic and cardiovascular consequences, there is a growing body of ev-idence suggesting an impact of maternal diabetes on respiratory health, which is influenced by in-trinsic and extrinsic environmental factors during fetal and postnatal development, with important implications for respiratory disorders in later life.

Trends of Neonatal Hypoxic-Ischemic Encephalopathy Prevalence and Associated Risk Factors in the United States, 2010 to 2018

ABSTRACT Neonatal hypoxic ischemic encephalopathy (HIE) is one of the most common causes of neonatal morbidity and mortality worldwide. It has an overall mortality rate ranging from 15% to 25%, with up to 50% of survivors developing long-term neurological disabilities. Therapeutic hypothermia (TH) has been the only effective treatment for moderate to severe HIE in neonates ≥35 weeks of gestation. Infants with mild HIE previously had been excluded from studies, but a recent study reported approximately 16% developed a disability at 18 to 22 months of age. Despite treatment, up to 29% of neonates with HIE still develop adverse outcomes. To decrease the prevalence of neonatal HIE, prevention is key and a better understanding of associated maternal, perinatal, and neonatal risk factors is needed. The aim of this study was to assess trends of HIE prevalence and use of TH, mortality, and clinical neonatal outcomes. This was a cross-sectional analysis using National Inpatient Sample data sets from 2010 to 2018. Included were newborn infants diagnosed with HIE or asphyxia, who were ≥35 weeks of gestation and had a birth weight ≥2500 g. Excluded were those with congenital heart disease, congenital central nervous system anomalies, congenital lung anomalies, congenital abdominal wall defects, gastroschisis or omphalocele, multiple congenital anomalies, common syndromes, and chromosomal disorders. Of the 32,180,617 infants included in the analysis, 31,249,100 were term infants (>35 weeks). The prevalence of all degrees of HIE for term infants was approximately 0.1%. There was a modest increase from 0.093% during the years 2010 and 2012 up to 0.097% during 2016 and 2018. Approximately 21% of cases were managed with TH. More infants with moderate HIE received TH than those with severe HIE (29.9% vs 19.9%; P < 0.01). Fewer infants with mild or unspecified HIE received TH than those with severe HIE (17.7% and 17.3%, respectively; P < 0.01). From 2010 to 2018, the use of TH increased overall and within each grade of HIE (P < 0.01). The mortality rate was higher in term infants with all degrees of asphyxia than the general population (10.8% vs 0.06%; P < 0.01). Over time, the mortality rate in term infants decreased from 12.3% in 2010 to 8.3% in 2018 (P < 0.01). The analysis included 931,517 were late preterm infants (35–36 weeks of gestation). The combined prevalence for all grades of HIE was 0.23% and did not change significantly over the years. Approximately 21% of late preterm infants were managed with TH. More infants with moderate HIE received TH than those with severe HIE (26.9% vs 20.1%). Fewer infants with mild HIE received TH (13.2%), and no significant difference was observed in infants with unspecified HIE compared with those with severe HIE (18.7% vs 20.1%). The use of TH increased has increased in late preterm infants over the years. The strongest factors associated with HIE were placental infarction or insufficiency, placental abruption, and cord prolapse. Female infant sex, maternal Hispanic ethnicity, and maternal Asian race were associated with lower risk of HIE. In conclusion, HIE prevalence remained essentially the same at 1 per 1000 live births. Use of TH increased, and mortality decreased over time. The strongest factors associated with HIE were placental factors.

First Reported Case of Gabriele-de Vries Syndrome with Spinal Dysraphism

Gabriele-de Vries syndrome is a rare autosomal dominant genetic disease caused by de novo pathogenic variants in the Yin Yang 1 (YY1) gene. Individuals with this syndrome present with multiple congenital anomalies, as well as a delay in development and intellectual disability. Herein, we report the case of a newborn male patient with a novel de novo pathogenic variant in the Guanine Nucleotide-Binding Protein, Alpha Stimulating (GNAS) gene, which was identified by whole-exome sequencing. Our patient suffered from a large open spinal dysraphism which was treated surgically immediately after birth. During the follow-up, facial dysmorphism, bladder and bowel incontinence, and mildly delayed motor and speech development were observed. Congenital central nervous system disorders were also confirmed radiologically. In this case report, we present our diagnostic and treatment approaches to this patient. To our knowledge, this is the first reported case of Gabriele-de Vries syndrome presenting with spinal dysraphism. Extensive genetic evaluation is the cornerstone in treatment of patients with suspected Gabriele-de Vries syndrome. However, in cases with potentially life-threatening conditions, surgery should be strongly considered.

African care for congenital central nervous system disorders: Falling far short of global management standards?

African care for congenital central nervous system disorders: Falling far short of global management standards?

Ailing neurosurgical services in rural Africa

Ailing neurosurgical services in rural Africa

Pattern of Congenital Central Nervous System Anomalies Among Newborns at A Regional Special Care Baby Unit (SCBU) in Makurdi, North Central Nigeria

Background: Congenital anomalies of the central nervous system (CNS) are important causes of childhood mortality, chronic illness and disability. They have significant implications for childhood growth and development particularly in resource limited settings. Areview of their occurrence is valuable to instituting preventive and curative health care services.Objective: To document the pattern of congenital CNS anomalies in our practice Subjects and Method: A retrospective study of all neonatal admissions with congenital anomalies of the CNS (Patients) admitted into the Special Care Baby Unit (SCBU) of Benue State University Teaching Hospital (BSUTH) in Makurdi-Nigeria, between June 2013 andJanuary 2016. The anomalies were classified according to the ICD 10 Classification. Other parameters assessed were: age at admission, gestational age at delivery, family history of congenital anomalies, maternal age, social class, history of ante natal care, and admission outcome.Results: A total of 73 (9.3%) out of the admitted 785 neonates had congenital anomalies and majority (28, 38.4%) were of the CNS. The affected patients had a male preponderance (20, 71.4%). Myelomeningocele was the commonest CNS anomaly (20, 71.4 %). Poor antenatal care, lack of periconceptional folic acid (pFA) intake, late folic acid supplementation, low socio economic class, and late presentation were all associated with the incidence of congenital CNS anomalies. The patients had a neonatal mortality rate of 7.1% over the study period of 30 months (2.8% per year).Conclusion: Congenital CNS anomalies were the predominant congenital anomalies, and myelomeningocele was the commonest. The study underscores the need to institute a comprehensive healthcare programme for the prevention and management of congenital anomalies of the CNS in our practice.

Evaluation of prenatal central nervous system anomalies: obstetric management, fetal outcomes and chromosome abnormalities

ObjectiveTo study the outcomes of fetuses who were diagnosed with central nervous system (CNS) anomalies during prenatal period and to describe the obstetric management of those pregnancies.MethodsIn this retrospective study, fetuses who were detected to have central nervous system anomalies by prenatal ultrasound from January 2010 to December 2019 were recruited. Data regarding prenatal diagnosis and obstetric outcomes were retrieved from maternal and paediatric records. The prognosis of fetuses who were born alive was classified based on their neurodevelopmental outcome within two years of life.ResultsThere were a total of 365 fetuses with CNS anomalies within the 10-year study period, with a mean gestational age of 24.65±7.37 weeks at diagnosis. Ventriculomegaly (23.36%) was the commonest CNS anomalies seen. 198 (54.20%) of these fetuses had associated extra-CNS anomalies, with cardiovascular being the most common system involved. Fetal karyotyping was performed in 111 pregnancies, with chromosomal aberrations detected in 53 (49.07%) cases and culture failure in 3 cases. Majority of the chromosomal abnormalities were Edward syndrome (trisomy 18) and Patau syndrome (trisomy 13). Fetuses with congenital CNS anomalies and abnormal chromosomal karyotyping were more likely to be diagnosed earlier by prenatal ultrasound and tend to have poorer obstetric and neurocognitive prognosis. Prenatally, 86 (23.56%) of the cases were lost to follow up and likely to deliver elsewhere. Among the 279 cases whom their pregnancy outcomes were available, 139 (49.82%) pregnancies resulted in live births, 105 (37.63%) pregnancies were electively terminated, while the remaining 35 (12.54%) pregnancies ended in spontaneous loss. The decision of termination of pregnancy largely depends on mean diagnostic gestational age, presence of chromosomal aberrations and abnormal amniotic fluid volume in those fetuses. Two years after delivery, only 75 (53.96%) children out of 139 live births were still alive, 43 (30.93%) died and 21 (15.11%) cases were lost to follow-up. 32 (23.02%) children with prenatally diagnosed CNS anomalies had normal neurodevelopmental outcome. The presence of multiple CNS anomalies and involvement of extra-CNS anomalies indicated a poorer neurodevelopmental prognosis.ConclusionLess than 50% of fetuses with prenatally diagnosed CNS anomalies resulted in live births. Even if they survive till delivery, 36.45% of them passed away within 2 years and 62.79% of children who survived till 2 years old had neurodevelopmental disability.

Use of real-time artificial intelligence in detection of abnormal image patterns in standard sonographic reference planes in screening for fetal intracranial malformations.

To develop and validate an artificial intelligence system, the Prenatal ultrasound diagnosis Artificial Intelligence Conduct System (PAICS), to detect different patterns of fetal intracranial abnormality in standard sonographic reference planes for screening for congenital central nervous system (CNS) malformations. Neurosonographic images from normal fetuses and fetuses with CNS malformations at 18-40 gestational weeks were retrieved from the databases of two tertiary hospitals in China and assigned randomly (ratio, 8:1:1) to training, fine-tuning and internal validation datasets to develop and evaluate the PAICS. The system was built based on a real-time convolutional neural network (CNN) algorithm, You Only Look Once, version 3 (YOLOv3). An image dataset from a third tertiary hospital was used to further validate, externally, the performance of the PAICS and to compare its performance with that of sonologists with different levels of expertise. Furthermore, a prospective video dataset was employed to evaluate the performance of the PAICS in a real-time scan scenario. The diagnostic accuracy, sensitivity, specificity and area under the receiver-operating-characteristics curve (AUC) were calculated to assess the performance of the PAICS and to compare this with the performance of sonologists with different levels of experience. In total, 43 890 images from 16 297 pregnancies and 169 videos from 166 pregnancies were used to develop and validate the PAICS. The system achieved excellent performance in identifying 10 types of intracranial image pattern, with macro- and microaverage AUCs, respectively, of 0.933 (95% CI, 0.798-1.000) and 0.977 (95% CI, 0.970-0.985) for the internal validation image dataset, 0.902 (95% CI, 0.816-0.989) and 0.898 (95% CI, 0.885-0.911) for the external validation image dataset and 0.969 (95% CI, 0.886-1.000) and 0.981 (95% CI, 0.974-0.988) in the real-time scan setting. The performance of the PAICS was comparable to that of expert sonologists in terms of macro- and microaverage accuracy (P = 0.863 and P = 0.775, respectively), sensitivity (P = 0.883, P = 0.846) and AUC (P = 0.891, P = 0.788), but required significantly less time (0.025 s per image for PAICS vs 4.4 s for experts, P < 0.001). Both in the image dataset and in the real-time scan setting, the PAICS achieved excellent diagnostic performance for various fetal CNS abnormalities. Its performance was comparable to that of experts, but it required less time. A CNN algorithm can be trained to detect fetal CNS abnormalities. The PAICS has the potential to be an effective and efficient tool in screening for fetal CNS malformations in clinical practice. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.

Role of MRI in the prognosis of hypoxic–ischemic encephalopathy

BackgroundNeonatal encephalopathy is a heterogeneous syndrome characterized by signs of central nervous system dysfunction in newborn infants. The main cause of neonatal encephalopathy can be broadly divided into perinatal asphyxia [hypoxic–ischemic encephalopathy (HIE)], perinatal stroke, metabolic encephalopathy from inborn errors of metabolism, congenital neonatal central nervous system infections, and severe birth trauma.ObjectivesTo highlight the predictive value of MRI as a safe and superior neuroimaging technique in cases of HIE.Patients and methodsThis progressive study was conducted on 30 neonates with HIE referred to the Radiology Department at Menoufia University Hospitals for advanced magnetic resonance techniques assessment during the period from July 2019 to December 2020. The study received the approval of Ethics Committee of Faculty of Medicine, Menoufia University. A written informed consent was taken from the parents or caregivers and written informed consent was obtained from them.ResultsApparent diffusion coefficient (ADC) value was significantly increased with hypertonia (1.75 ± 1.21), hypotonia (1.52 ± 1.51), and MRI than flaccid (0.86 ± 0.67). There was no statistically significant relation between ADC value with time of birth, causes of admission, Apgar score, time of birth at 5 min, Tendon reflex, seizures, periventricular leukomalacia, and intraventricular hemorrhage.ConclusionMRI findings were significantly related with diffusion-weighted (DW) and ADC value. MRI findings indicated that periventricular leukomalacia and basal ganglia ischemia were significantly related with DW. Moreover, it was noted that MRI is a very efficient tool in evaluating morphometric HIE. It's noninvasiveness and no exposure to ionizing radiation is an added advantage. However, experience and understanding of the principles are essential for accurate diagnosis. Also, DW and ADC values may add value to routine MRI examination. However, there is limitation in our study as regards the small number of cases, lack of clinical data, and long-term follow-up of cases.

Four-dimensional ultrasound in the diagnosis of intrauterine central nervous system anomalies: four dimensional in CNS congenital anomalies

Background Central nervous system (CNS) anomalies are an important factor of neonatal deaths. Three-dimensional (3D)/4D ultrasound (US) has an advantage over the conventional 2D US as it provides additional multiple options like multiplanar view, tomographic view, and surface rendering view leading to accurate diagnosis of fetal congenital anomalies. Aim The aim of this study was to evaluate the role of the 4D US in the diagnosis of in utero congenital CNS anomalies. Patients and methods The current study was conducted on 30 pregnant women with suspected congenital CNS anomalies by 2D US in Tanta University Hospitals. All the patients were subjected to 2D and 4D US examination in cases with suspected anomalies by 2D US. Results Out of 30 anomalies, two (6.5%) anomalies were lobar holoprosencephaly; six (20%) anomalies were anencephaly, three (10%) anomalies were exencephaly, one (3.5%) anomaly was aqueductal stenosis, three (10%) anomalies were chiari malformation with its two types I and II, and three (10%) anomalies were Dandy–Walker. Three anomalies were hydranencephaly (10%), three (10%) meningocele, one (3.5%) spina bifida, and two cases were obstructive hydrocephalus distal to the 4th ventricle (obstruction of foramen of luschka and magendie) (6.5%). As regards brain anomalies, sensitivity of 4D US=96.4%, specificity of 4D US=100%, positive predictive value=100%, negative predictive value=50.0%, and accuracy=96%. So, 4D US is more superior to 2D US in demonstrating anomalies of the CNS (through multiplanar view and tomographic views), which may affect the postnatal outcome. 4D US offers precise demonstration of normal and abnormal fetal structures through its different modes, so it helps in accurate prenatal diagnosis of CNS anomalies. Conclusion 4D US is considered now an important diagnostic tool in fetal medicine as it provides many advanced diagnostic options such as multiplanar view or tomographic imaging, volume calculation, and surface rendering mode, which aided in early diagnosis of fetal anomalies and improved postnatal outcome.

Demographic characteristics of children with growth hormone deficiency from 1996 to 2015 in Japan: 20 years of data from the foundation for growth science in Japan.

Growth hormone (GH) deficiency (GHD) in children is a heterogeneous condition that includes several entities of various severities. GH treatment has been affected by various factors. Because comprehensive analyses for Japanese children with GHD over time are scarce, we investigated the baseline characteristics of patients with GHD at the start of GH treatment between 1996 and 2015 using data from the Foundation for Growth Science in Japan. During the registration period, 19,717 subjects were determined to be eligible for GH treatment as GHD. Overall analyses revealed that there were twice the number of male patients as female patients, and the etiology was idiopathic in 91.1%, central nervous system (CNS) tumor at the hypothalamus-pituitary area in 1.7%, CNS tumor distant from the hypothalamus-pituitary area in 0.68%, other tumors in 0.91%, congenital CNS malformations in 0.83%, and other diseases in 1.1% with their specific characteristics. The latest average age, height standard deviation score (SDS), insulin-like growth factor-1 SDS, and proportion of severe GHD at GH treatment initiation were 8.8 years, -2.76, -1.42, and 19.5%, respectively. The proportions of breech delivery and asphyxia gradually decreased, whereas that of caesarean section gradually increased during the registration period with the latest values of 2.2%, 4.9%, and 14.0%, respectively (all analyses: p < 0.0001). In contrast, the proportion of idiopathic GHD with breech delivery seemed to reach the lowest level among those with a birth year before 2000. This study identified the characteristics and changes of patients with GHD over 20 years.

Синдром Веста: клінічні, нейровізуалізаційні симптоми та показники розвитку

Актуальність. Синдром Веста характеризується картиною гіпсаритмії на електроенцефалографії, судомами спазмового типу і тріадою психомоторної регресії. Метою цього дослідження було визначення демографічних характеристик, клінічних та лабораторних показників, відповіді на лікування, впливу на формування нервової системи та факторів ризику, що розвинулися протягом тривалого спостереження пацієнтів із діагнозом синдрому Веста. Матеріали та методи. У дослідження були включені пацієнти, у яких був діагностований синдром Веста в період з липня 2011 року по грудень 2012 року на кафедрі дитячої неврології університету Ататюрка. З анамнезу кожного пацієнта були зібрані наступні дані. Були розглянуті показники загального та неврологічного досліджень, церебральної томографії та електроенцефалографії. Біохімічні аналізи проводилися за результатами лабораторних досліджень. Розвиток кожної дитини оцінювався за допомогою тесту для скринінгу на розвиток Denver 2, тесту для контролю та скринінгу розвитку Ankara. Результати. Співвідношення хлопчиків і дівчаток серед наших пацієнтів становило 2,28 : 1, а середній вік становив 8,62 ± 7,20 місяця (медіана: 8,0). 59 (85,51 %) пацієнтів були в симптоматичній групі й 10 (14,49 %) — у групі з ідіопатичним генезом захворювання. Найбільш частими факторами в симптоматичній групі були вроджені аномалії центральної нервової системи (45,7 %) і гіпоксично-ішемічна енцефалопатія (28,8 %). Спостерігалася вірогідна різниця між ідіопатичною та симптоматичною групами за частотою рецидивів, рентгенологічними даними та прогнозом (р = 0,035/р &lt; 0,001/р &lt; 0,001). Рецидив спостерігався в 43,5 % хворих. Серед пацієнтів, які отримували адренокортикотропний гормон, 83 % особи відповіли на лікування, у 17 % реєстрували резистентні судоми. Статистично значущої різниці між відповідями на лікування адренокортикотропним гормоном та іншими методами лікування не було (р = 0,093). У 46 з 55 дітей (83,6 %) була виявлена затримка розвитку. Висновки. Рання діагностика і лікування, надання належного й зручного лікування при синдромі Веста можуть чинити сприятливий вплив на прогноз залежно від етіології.

Surgical Outcome of Adolescents and Young Children with Tethered Cord Syndrome: A Retrospective Analysis

Objective: In Spinal dysraphism, neural tube defect is one of the leading causes of congenital central nervous system disorders and contributes to a high proportion of disability and mortality. This study aimed to evaluate the outcome of the detethering of tethered cord syndrome.&#x0D; Materials &amp; Methods: The study was conducted at the Neurosurgery Department of Hayatabad Medical Complex Peshawar. A total of 110 patients were included in our study. Clinical examination was recorded for back swelling, dermal stigmata, scars, lower limb neurological function, sensory deficits, reflexes. Also, look for any deformities like kyphoscoliosis or limb deformities and the presence/absence of neuropathic ulcers. Imaging studies were recorded for diagnosis, the level of spinal tethering, presence/absence of syrinx, and spine deformities. During the surgical operation, the diagnosis of the lesion was confirmed and the interventional procedure was recorded.&#x0D; Results: One hundred ten patients were admitted during the study period with 57 (52.2%) females and 53 (47.8%) males with a mean age of 9.3 years (SD ± 4.3). Most patients had presented with pain in lower limbs (60.9%) and backache was (34.8%). The most common operative complication was CSF leak in 29 patients (26.1%) while wound infection occurred in 14 (13%) cases.&#x0D; Conclusion: Tethered cord syndrome due to occult spinal dysraphism is a rare disease with significant neurologic consequences for the younger generation. Early clinical diagnosis and good surgical treatment could prevent the development of these complications.

Congenital Infections of the Nervous System.

This article provides an overview of congenital infections affecting the central nervous system (CNS), discussing the epidemiology, clinical features, diagnostic tools, and preventive and treatment measures for a variety of pathogens with the potential to infect the developing fetal brain. Contrary to popular belief, many congenital CNS infections are preventable and treatable. Treatment options exist for congenital cytomegalovirus, human immunodeficiency virus (HIV), herpes simplex virus, toxoplasmosis, and syphilis, although the efficacy of these treatments and the populations that may benefit from treatment are variable. Zika virus has recently emerged as a pathogen affecting the fetal brain, and new data suggest that the pathogenesis of Zika virus involves direct infection of neuronal progenitor cells leading to destruction of CNS tissue. The incidence of congenital syphilis has been increasing in the United States over the past decade as a direct result of new syphilis cases among adults and poor access to adequate maternal health care. Congenital CNS infections often result in significant neurologic morbidity in pediatric patients. Therefore, early identification of maternal illness and implementation of preventive measures are important in improving developmental outcomes and quality of life.

Value of pre- and postnatal magnetic resonance imaging in the evaluation of congenital central nervous system anomalies.

Fetal MRI and neonatal MRI of the central nervous system (CNS) are complementary tools that can help to accurately counsel and direct the management of children with anomalies of the central nervous system. Postnatal MRI can add to fetal MRI by allowing for monitoring of changes in the severity of disease, better delineation of a suspected prenatal anomaly, evaluation for secondary pathologies related to the primary diagnosis, and surgical management direction. In this review we discuss the roles of fetal and neonatal MRI in the diagnosis and treatment of congenital anomalies of the CNS through a series of case examples and how both are important in patient management.

Diagnosis of central nervous system abnormalities: comparison of prenatal neurosonography and foetal magnetic resonance imaging findings

Magnetic resonance imagining (MRI) is gradually becoming the more preferred imaging modality in the evaluation of central nervous system (CNS) abnormalities rather than foetal ultrasonography (USG). The aim of this study was to compare the findings of prenatal neurosonography and foetal MRI. The study was a retrospective study analysing the records of 160 pregnant women who underwent both foetal MRI and USG due to suspicion of CNS abnormalities between 2008 and 2019. Indications for applying foetal MRI were neurosonography and foetal MRI findings. When the compatibility between MRI and USG results was examined in CNS abnormalities, it was found fully compatible in 61.3% of cases, partially compatible in 24.53% of cases, and not compatible in 14.5% of cases. When comparing prenatal neurosonography and foetal MRI findings, additional findings were reported in 16.9% of cases, and no additional finding was reported in 66.8% of cases. While normal anatomical findings were reported in 8.8% of the cases in MRI, the diagnosis made by neurosonography changed in 7.5%. Foetal MRI has more advantages than USG both in imaging the CNS abnormalities in more detail and in determining the accompanying additional anomalies. IMPACT STATEMENT What is already known on this subject: USG is a safe, practical and cost-effective primary imaging method that is widely used for foetal anomaly screening. However, there may sometimes be difficulties in evaluating the foetal brain structures due to foetal position which is unsuitable for imaging, extremely obese with a high body mass index, oligohydramnios and ossified foetal skull. For this reason, magnetic resonance imaging (MRI) is used as the most commonly used imaging method after USG in the evaluation of foetal anatomy, especially CNS. What do the results of this study add?: In our study, we saw that foetal MRI has more advantages than neurosonography in both seeing CNS abnormalities in more detail and recognising additional anomalies that may accompany. What are the implications of these findings for clinical practice and/or further research?: We have seen that besides neurosonography, foetal MRI can provide important information that can affect the clinical approach in pregnancy management by increasing the correct diagnosis in pregnancies with congenital CNS abnormalities. MRI: it is the best secondary imaging modality that can aid diagnosis in addition to neurosonography in the diagnosis of CNS abnormalities and in suspected cases. Therefore, foetal MRI should be used more widely in prenatal diagnosis.