Congenital Central Nervous System Research Articles

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.

Congenital CNS malformations in pediatric autopsy and surgical specimen

Aim: The aim of the present study was to analyze congenital central nervous system (CNS) malformations from paediatric autopsies and from surgical specimens, to recognise, record, categorise the congenital CNS malformations and to study its association with various maternal and fetal factors. Materials and Methods: This is both prospective (June 2009 to May 2011) and retrospective study conducted during period of two and half decades i.e. from 1987 to May 2011 in a tertiary care hospital. Cases were selected from both pediatric autopsies and surgical specimens as per inclusion and exclusion criteria. Pediatric autopsy was conducted as per standard protocol after obtaining consent from parents. Results: Out of 3492 pediatric autopsies, the CNS malformations were seen in 58 cases and out of 5639 pediatric surgical specimens, 85 were of CNS anomalies. In autopsy study neural tube defects (NTD), 20 cases (34.48%) were the most common followed by congenital hydrocephalus, 14 cases (24.14%). In surgical specimen study all were NTD except for one neuroenteric cyst. Conclusion: Neural tube defects were the most common CNS anomalies; majority of which could be surgically treated. CNS anomalies are associated with preterm births, low birth weight and younger maternal age.Although radiological investigations have high sensitivity in diagnosing CNS malformations, autopsy findings are essential to arrive at a definitive diagnosis.

Management of Neural Tube Defect: A Single-Center Experience

Objective: Neural tube defects are a heterogeneous and complex group of congenital central nervous system anomalies involving that involve the failed closure of the vertebral column. The spinal cord is frequently affected, and neural tube defects substantially increase the risk of disability and death within the first year of life. Neural malformations are often associated with abnormalities in other organ systems. This study presents our clinical experiences regarding the development and comorbidities of infants with neural tube defect and compares them with the literature.
 Materials and Methods: This retrospective study included 47 patients (24 females, 23 males) who underwent surgical treatment for neural tube defect in the neurosurgery department of Sivas Cumhuriyet University Faculty of Medicine Training and Research Hospital between 2000 and 2020.
 Results: Of the 47 patients, 34 (72.34%) had myelomeningocele and 13 (27.65%) had meningocele. Lesion location was thoracolumbar in 38 patients (80.85%), lumbar in 5 (10.63%), lumbosacral in 3 (6.38%), and cervical in 1 patient (2.12%). Twenty-seven patients (57.44%) underwent ventriculoperitoneal shunting due to hydrocephalus. Thirty patients (63.82%) had Chiari malformation type II, 13 (27.65%) had cranial anomalies, and 1 (2.12%) had Down syndrome. In 9 patients, the conus medullaris terminated at or below the L3 vertebral body (19.14%). Two patients (4.25%) died.
 Conclusion: Because of their multidimensional nature, neural tube defects have various effects on individuals, families, society, and the field of medicine. This study represents a small group of patients with neural tube defects. Cases should be included from other centers to compile more comprehensive data about patients with neural tube defects in Turkey.

Emerging orthobunyaviruses associated with CNS disease.

The Orthobunyavirus genus comprises a wide range of arthropod-borne viruses which are prevalent worldwide and commonly associated with central nervous system (CNS) disease in humans and other vertebrates. Several orthobunyaviruses have recently emerged and increasingly more will likely do so in the future. Despite this large number, an overview of these viruses is currently lacking, making it challenging to determine importance from a One Health perspective. Causality is a key feature of determining importance, yet classical tools are unfit to evaluate the causality of orthobunyaviral CNS disease. Therefore, we aimed to provide an overview of orthobunyaviral CNS disease in vertebrates and objectify the causality strength of each virus. In total, we identified 27 orthobunyaviruses described in literature to be associated with CNS disease. Ten were associated with disease in multiple host species of which seven included humans. Seven viruses were associated with both congenital and postnatal CNS disease. CNS disease-associated orthobunyaviruses were spread across all known Orthobunyavirus serogroups by phylogenetic analyses. Taken together, these results indicate that orthobunyaviruses may have a common tendency to infect the CNS of vertebrates. Next, we developed six tailor-made causality indicators and evaluated the causality strength of each of the identified orthobunyaviruses. Nine viruses had a ‘strong’ causality score and were deemed causal. Eight had a ‘moderate’ and ten a ‘weak’ causality score. Notably, there was a lack of case-control studies, which was only available for one virus. We, therefore, stress the importance of proper case-control studies as a fundamental aspect of proving causality. This comprehensible overview can be used to identify orthobunyaviruses which may be considered causal, reveal research gaps for viruses with moderate to low causality scores, and provide a framework to evaluate the causality of orthobunyaviruses that may newly emerge in the future.

The use of chromosomal microarray analysis for diagnostics of chromosomal pathology in fetal central nervous system malformations

Introduction. The prevalence of congenital malformations (CMFs) in fetal central nervous system (CNS) ranges from 1.5 to 3 % and covers around 29 % among all malformations, whereas percentage in the structure of perinatal and infant mortality reaches 25–26 %.Aim: to estimate frequency of pathogenic copy number variations (CNVs) in fetuses with congenital malformations of CNS and normal karyotyping cytogenetic analysis.Materials and Methods. There were enrolled 42 pregnant women underwent invasive prenatal diagnostics in 2013–2019 due to ultrasound detection of congenital CNS defect in fetus. Fetal samples were studied by using chromosome microarray analysis (CMA).Results. Various pathogenic CNVs were detected in 7 (16.6 %) fetuses with prenatally diagnosed congenital CNS malformations. Non-syndrome pathogenic CNVs were detected in 85.7 %.Conclusion. Thus, performing chromosome microarray analysis as the first-line assay allows to diagnose not only aneuploidy, but also microdeletion/microduplication, the size of which below resolution threshold for standard cytogenetic karyotyping

Hydranencephaly: Clinical Features and Survivorship in a Retrospective Cohort

Hydranencephaly is a congenital central nervous system disorder characterized by the complete or near-complete absence of the cerebral cortex and basal ganglia. Because of its rarity, data on the clinical features and survivorship remain sparse. We aim to determine the clinical features and survivorship of a cohort of patients with hydranencephaly. We performed a retrospective cohort study of all patients diagnosed with hydranencephaly at our institution from 2008 to 2018. Data on demographics, clinical features, presence of comorbidities, surgical operations performed, and status on last follow-up were collected. Survival curves were generated using Kaplan-Meier analysis. Fifty patients were included in the cohort, who had a median age at diagnosis of 4 months and a female predilection. The most common clinical manifestations were macrocephaly (92%) and seizures or myoclonic movements. Infection was present in 36% of cases, endocrinopathies in 22%, dysmorphisms in 20%, and cardiac disease in 8%. Twenty patients underwent shunt insertion, with half developing a postoperative complication at a mean follow-up of 14.9 months. The median survival of the cohort was not reached at 7.5 years. Among the patients with follow-up, characteristics were similar between the surgical and nonsurgical groups, except for the greater incidence of infections in the nonsurgical group. The survival curves among the groups were significantly different, with a hazard ratio of 3.731 in the nonsurgical group. In this large single-center retrospective cohort of patients with hydranencephaly, novel findings are presented regarding the clinical manifestations and survivorship of this condition.

Development of a Core outcome set for fetal Myelomeningocele (COSMiC): study protocol

BackgroundOpen spina bifida (OSB) is one of the most common congenital central nervous system defects and leads to long-term physical and cognitive disabilities. Open fetal surgery for OSB improves neurological outcomes and reduces the need for ventriculoperitoneal shunting, compared to postnatal surgery, but is associated with a significant risk of prematurity and maternal morbidity. Fetoscopic surgery comes with less maternal morbidity, yet the question remains whether the procedure is neuroprotective and reduces prematurity. Comparison of outcomes between different treatment options is challenging due to inconsistent outcome reporting. We aim to develop and disseminate a core outcome set (COS) for fetal OSB, to ensure that outcomes relevant to all stakeholders are collected and reported in a standardised fashion in future studies.MethodsThe COS will be developed using a validated Delphi methodology. A systematic literature review will be performed to identify outcomes previously reported for prenatally diagnosed OSB. We will assess maternal (primary and subsequent pregnancies), fetal, neonatal and childhood outcomes until adolescence. In a second phase, we will conduct semi-structured interviews with stakeholders, to ensure representation of additional relevant outcomes that may not have been reported in the literature. We will include patients and parents, as well as health professionals involved in the care of these pregnancies and children (fetal medicine specialists, fetal surgeons, neonatologists/paediatricians and allied health). Subsequently, an international group of key stakeholders will rate the importance of the identified outcomes using three sequential online rounds of a modified Delphi Survey. Final agreement on outcomes to be included in the COS, their definition and measurement will be achieved through a face-to-face consensus meeting with all stakeholder groups. Dissemination of the final COS will be ensured through different media and relevant societies.DiscussionDevelopment and implementation of a COS for fetal OSB will ensure consistent outcome reporting in future clinical trials, systematic reviews and clinical practice guidelines. This will lead to higher quality research, better evidence-based clinical practice and ultimately improved maternal, fetal and long-term childhood outcomes.Trial registrationInternational Prospective Register of Systematic Reviews (PROSPERO) CRD42018104880. Registered on December 5, 2018. Core Outcome Measures in Effectiveness Trials (COMET): 1187

Congenital tumors of the central nervous system: an institutional review of 64 cases with emphasis on tumors with unique histologic and molecular characteristics.

Congenital brain tumors are rare accounting for 0.5%–1.9% of all pediatric brain tumors. While different criteria have been used to classify a tumor as congenital, those diagnosed prior to 6 months of age are considered to be “probably” congenital in origin. We performed an institutional review of all central nervous system (CNS) tumors (surgical and autopsy specimens from 1990 to 2019) in patients less than 6 months old. Sixty‐four unique cases were identified, and these accounted for 2.0% of all CNS tumor specimens at our institution. The most common tumor types were high‐grade gliomas, low‐grade gliomas and medulloblastomas. Atypical teratoid rhabdoid tumors, choroid plexus tumors and germ cell tumors also accounted for a significant portion of the cohort. Seven tumors were diagnosed prenatally. The most common clinical presentation at diagnosis was increased head circumference. At the conclusion of the study, over half of the patients were alive including all patients with WHO grade I and II tumors. Ninety‐two percent of cases were classifiable using the 2016 WHO system, and when available, molecular findings supported the histologic diagnoses. However, several gliomas had unusual histologic features and did not correspond to a well‐defined entity. Molecular testing was essential for accurate classification of a subset of these tumors, and several high‐grade gliomas exhibited fusions considered unique to infantile gliomas, including those involving the MET, ALK and NTRK genes. To our knowledge, this cohort represents the largest single‐institution study of congenital CNS tumors and highlights many ways in which congenital CNS tumors are distinct from CNS tumors of older pediatric patients and adults.

The Spectrum of Congenital Central Nervous System Anomalies Among Stillborn: An Autopsy Based Study

Background:Congenital central nervous system (CNS) anomalies are the structural or functional abnormalities of the brain and spinal cord that occur during the intrauterine developmental process.Purpose:The present study aims to detect the prevalence of congenital CNS anomalies among stillborn fetuses, the association between congenital anomalies and maternal factors, and also the association between autopsy and ultrasound findings.Methods:This study was conducted on 50 stillborn fetuses, obtained from the Department of Obstetrics and Gynecology at JSS Medical College and Hospital, Mysuru. The fetuses were fixed in 10% formalin and autopsies were performed as per the standard fetal autopsy protocol. The congenital CNS anomalies were studied in detail.Results:CNS anomalies were the most common congenital anomalies observed. Out of the total 50 stillborn fetuses studied, CNS anomalies were found in 17 fetuses and their occurrence was more common among male stillborn than females. Meningomyelocele was the most common anomaly, followed by anencephaly. The other anomalies documented were meningocele, encephalocele, meningoencephalocele, agenesis of the corpus callosum, craniorachischisis, bifid cerebellum with hypoplastic vermis, holoprosencephaly, and sirenomelia.Fisher’s exact test showed a significant association between maternal hypothyroidism and congenital CNS anomalies (P < .05). The autopsy confirmed the ultrasound findings in 40 (80%) fetuses. There were significant additional findings observed in seven (14%) fetal autopsies and ultrasound diagnosis completely changed in three (6%) cases, after the final autopsy procedure.Conclusion:The fetal autopsy is the single most directly evident investigation, which gives information that changes or significantly improves the clinical diagnosis. A multidisciplinary holistic approach toward pregnancy will help to detect any kind of abnormality in the fetus and thus to take a timely decision toward the management.

Investigation of copeptin levels in foetal congenital central nervous system anomalies

Copeptin has been shown to be associated with central nervous system pathologies. The aim of this study was to investigate the relationship between serum CCP levels and central nervous system (CNS) anomalies. In this case-control study, those at 9–14 weeks of gestation serum levels of copeptin, were assessed in pregnant women whose foetuses subsequently developed CNS anomalies (group 1: n = 60) and compared with gestational age-matched pregnant women who exhibited normal pregnancy outcomes (group 2: n = 48). The mean copeptin levels were 1.58 ± 0.40 ng/mL and 1.11 ± 0.36 ng/mL in the CNS anomalies and control groups, respectively (p < .0001). An increased level of copeptin independently predicts development of CNS anomalies, suggesting that copeptin can be used for prediction and discrimination of CNS anomalies in normal pregnancies at 9–14 weeks of gestation. Impact statement What is already known on this subject? There is no test or method to diagnose CNS anomalies in the first trimester of pregnancy. This study presents the first and new information on the relationship between serum copeptin levels and central nervous system anomalies in pregnant women whose foetuses subsequently developed CNS anomalies. What do the results of this study add? I have strongly demonstrated differences in maternal CPP levels between CNS anomalous pregnancies and healthy controls. What are the implications of these findings for clinical practice and/or further research? It has been thought that copeptin appears to be an ideal marker for central nervous system anomaly prediction at 9–14 weeks of gestational age and if confirmed in larger prospective studies. Finally, these results could not be used as parameters for prenatal CNS screening. Advanced studies, well-structured and conducted on larger populations are needed to investigate the issue further.

Prenatal diagnosis of central nervous system abnormalities: Neurosonography versus fetal magnetic resonance imaging

ObjectiveTo share our experience in diagnosis of congenital central nervous system (CNS) abnormalities by fetal magnetic resonance imaging (MRI). Study designThis study consisted of 110 pregnancies. Neurosonography (NS) findings were compared with MRI results. Anomalies were categorized into 10 groups: 1) Corpus callosum (CC) and cavum septum pellucidum (CSP) anomalies, 2) Neural tube defects (NTD), 3) Posterior fossa anomalies (PFA), 4) Primary ventriculomegaly (PVM), 5) Microcephaly, 6) Macrocephaly, 7) Periventricular leukomalacia (PVL), 8) Craniosynostosis, 9) Intracranial hemorrhage (ICH) and 10) Lumbosacral teratoma. Demographic features, clinical characteristics and perinatal outcomes of the study subjects were evaluated. ResultsGestational weeks for NS and for MRI were 25.5 and 26.5 weeks, respectively. Fourteen (12.7%) pregnancies were terminated. PVM (n = 36, 32.7%), CC and CSP anomalies (n = 29, 26.3%), PFA (n = 11, 10%) and NTD (n = 11, 10%) were the most common fetal MRI indications. There were no statistically significant differences between the accuracy of fetal NS and fetal MRI for CC and CSP anomalies, NTDs, PFA and PVM (p = 0.09, 0.43, 0.45 and 0.23, respectively). However, fetal MRI was more accurate for the detection of normal anatomic findings in cases with suspected microcephaly, macrocephaly and craniosynostosis in NS when pooled together (p = 0.007). Furthermore, MRI also seemed to be advantageous in CC & CSP anomalies though it was not validated by statistical measures. No statistically significant difference was found for diagnostic performance of NS and MRI according to gestational week (p = 0.27). ConclusionFetal MRI in addition to NS may improve diagnostic accuracy in pregnancies with congenital CNS abnormalities.

SAT-LB19 Is There a Need to Use Gadolinium Contrast for Pituitary MRI in the Evaluation of Pediatric Short Stature and Growth Hormone Deficiency?

SAT-LB19 Is There a Need to Use Gadolinium Contrast for Pituitary MRI in the Evaluation of Pediatric Short Stature and Growth Hormone Deficiency?

SAT-059 Congenital Craniopharyngioma: A Rare and Challenging Disease

Introduction: Congenital central nervous system tumors are seldomly seen, with just few reported cases of neonatal craniopharyngioma (NCP). Albeit being a benign tumor arising from epithelial vestiges along the adenohypophysis migration, NCP may have an aggressive behavior due to its location.Case Report: We report a two-month-old female infant referred to the Pediatric ward due to recurrent sepsis episodes, uncontrollable crying, large fontanelle and signs of adrenal insufficiency. Laboratory evaluation showed low serum cortisol 0.11 μg/dL(REF: 6.2-19.4 μg/dL), ACTH 6.66 pg/mL(REF: 7.2-63.3pg/mL) and Na 133 mEq/L(REF: 136-145mEq/L), normal Free T4 1.01 ng/dL(REF: 0.93-1.7 ng/dL) and a slightly elevated prolactin 59.43 ng/mL(REF: 4.79-23.3ng/mL). A transfontanelar ultrasound demonstrated a cystic and calcified sellar/suprasellar tumor. Encephalus Magnetic Resonance Imaging described a 36x42x33 mm multicystic sellar/suprasellar mass extending to the middle line and occupying all sellar space, leading to a deformed and compressed third ventricle, and displacing the mesencephalus, the cerebral pedunculus and the optic chiasm. Imaging evaluation suggested a craniopharyngioma. She started hydrocortisone therapy due to hypercortisolism and was submitted to transsphenoidal surgery, but just a partial resection of the tumor was possible. She needed levothyroxine and desmopressin replacement after surgery. On the 10th post-operative day she died due to infectious complications. The histological analysis of the tumor diagnosed an adamantinomatous-type grade I craniopharyngioma.Comments: Central nervous system tumors developing in the first 60 days of life are considered congenital. Besides being a rare condition, NCP are challenging and life-threatening. Although for some groups the complete resection of the tumor is considered the gold standard approach to those patients, sometimes it cannot be performed due to limitations intrinsic to the tumor biology and due to the patient’s age, worsening the prognosis of the infant. Multihormonal deficits and shortened survival of this patient were consequences of the tumor characteristics, delayed diagnosis of craniopharyngioma and the poor results during and after the surgical intervention.

End-of-Life Experiences for Children with Complex Chronic Conditions and Their Bereaved Parents: Perspectives on Preparedness (TH340C)

•Explain the unique end-of-life care needs of children with complex chronic conditions and their families.•Present findings from a large qualitative study of bereaved parents of children with complex chronic conditions. Children with complex chronic conditions (CCC) are assisted with technology and receive intensive medical care throughout their lives, resulting in unique end-of-life (EOL) needs. Parent perspectives are necessary to improving care, yet little is known about the lived experience of parents of children with CCC. To describe the experience of children with CCC at EOL and their parents. A team of pediatric palliative and critical care experts conducted thematic content analysis of 21 open-response items from a cross-sectional survey of bereaved parents of children with noncancer, noncardiac CCC who received care at Boston Children's Hospital and died between 2006-2015. The team iteratively created a coding structure that incorporated prefigured and emergent codes to identify key themes both within and across response sets. Response items were independently coded by two researchers, with a qualitative research expert providing adjudication and ensuring interpretive consistency. Response rate was 96% (n=110/114). Over 75% of children with CCC were assisted by technology and had congenital, chromosomal, or progressive central nervous system diseases. A broad range of EOL experiences were reported with a primary emergent theme being a desire for improved preparedness for EOL. Parents identified multiple factors associated with overall preparedness including knowledge about symptoms of dying and clinician behaviors that facilitated clear and honest information sharing, flexibility, non-abandonment, follow through, and inclusivity of parents and other clinicians. Parents who felt prepared reported opportunities for meaning-making and family rituals at EOL. Conversely, stress from care coordination and socioeconomic hardships were identified as impediments to EOL preparedness. Bereaved parents identified the importance of improved parent preparedness at EOL. Areas for further exploration include information sharing, care coordination, and clinician behaviors that attend to the unique EOL needs of children with CCC.

Assessment of the Knowledge of Risk Factors of Congenital Hydrocephalus among Mothers Attending Antenatal Clinics in a Rural Tertiary Hospital Irrua, Edo State.

Background One of the congenital central nervous system malformations with great impact on the mental and psychosocial development of children is congenital hydrocephalus and it happens to be one of the most common. A large vacuum exists between knowledge on maternal environmental risk factors associated with congenital hydrocephalus, most especially in our rural community which consists of a large segment of our society. Our study aimed to determine the knowledge and perception of mothers on factors existing in the maternal environment that potentially puts an increased risk of developing congenital hydrocephalus. Materials and Methods This was a cross-sectional study design spanning a period of 8 months (March 2018–October 2018), in which the knowledge and perception of the risk factors of congenital hydrocephalus among mothers attending antenatal clinic in Irrua specialist teaching hospital, a rural tertiary hospital in Irrua, Edo state, Nigeria, were assessed using a random sampling technique. Interviewer-administered questionnaires (reviewed and validated) were used. The data collected were entered and analyzed using SPSS version 21. Results The findings showed varying levels of knowledge of congenital hydrocephalus. Less than half (44.0%) of the respondents had poor knowledge, 34.5% had fair knowledge, and 21.6% had good knowledge. There was a statistically significant relationship between knowledge of congenital hydrocephalus and respondents’ knowledge of the risk factors of congenital hydrocephalus. Most (52.6%) had good perception of the risk factors of congenital hydrocephalus, while 23.3% had poor perception. Conclusion This study revealed a fairly good knowledge of congenital hydrocephalus and its risk factors among mothers, most especially those with a good level of education.

Engineering mesenchymal stromal/stem cell-derived extracellular vesicles with improved targeting and therapeutic efficiency for the treatment of central nervous system disorders.

Engineering mesenchymal stromal/stem cell-derived extracellular vesicles with improved targeting and therapeutic efficiency for the treatment of central nervous system disorders.

Pre- and Postnatal Diagnosis of Congenital Central Nervous System Anomalies in Iceland in 1992-2016

The incidence of congenital anomalies of the central nervous system (CNS) in Iceland during 1992-2016 was examined along with timing of diagnosis, maternal residence, known risk factors and perinatal outcomes. This was a retrospective study of all fe-tuses and newborns diagnosed with a CNS anomaly during the study period and their mothers. Information was obtained from the Icelandic Birth Registry and from maternal and neonatal medical records. Descriptive and inferential statistics were used in data analyzing. Annually, 3-12 cases of congenital CNS anomalies were diagnosed. Five year period incidence ranged from 1.4-2.4/1000 newborns, highest in 2012-2016. Over 89% were diagnosed -prenatally, of those 80% were terminated. The average gestational age at diagnosis of anencephaly was 19,3 weeks 1992-1996 vs. 11.6 weeks 2012-2016 (p=0,006). Urban area prenatal diagnosis was higher (94%) than rural (80%) (p=0.006). Known risk factors among mothers were uncommon, except for maternal obesity during the period 2012-2016 (23%). Of 57 live born children with CNS anomalies 37 (65%) were alive at the time of the study. The incidence of congenital anomalies of the CNS is stable and maternal risk factors are infrequent. Around 90% were diagnosed prenatally. Fetal anencephaly was diagnosed earlier at the end of the study period, after the introduction of a 11-14 week ultrasound scan in 2003, along with increased training among -healthcare professionals and improved ultrasound equipment. Higher prenatal detection rate in urban areas compared with rural may be explained by fewer ultrasound examinations being performed in less populated health districts, staff consequently receiving less training and experience and also with less advanced equipment.

Congenital central nervous system anomalies: Ten-year single center experience on a challenging issue in perinatal medicine

Objective:Our goal was to highlight the prenatal diagnosis and management of central nervous system (CNS) anomalies through sharing our clinic’s experience.Material and Methods:We evaluated prenatal findings and postnatal outcomes of neonates who had a CNS anomaly diagnosis in our clinic over a ten-year period. A total of 183 cases with various CNS anomalies were included in the study. Birth or termination preferences of mothers were recorded in all cases, and postnatal diagnosis concordance and prognosis after surgical procedures were evaluated in mothers who chose to continue the pregnancy.Results:The mean maternal age was 28.2±5.5 years, mean gravida was 2.2±1.3, and the mean gestational age at diagnosis was 30.5±5.5 weeks. Seventy-five out of 183 (41%) patients chose to terminate their pregnancy. Twenty babies (26.6%) in the termination of pregnancy group had additional anomalies. One hundred eight patients gave birth at our institution. The mean birth weight was 3060±647.5 g, the mean gestational week at delivery was 37.9±1.7 weeks, and mean APGAR score (5th minute) was 8.8±2.3. Four neonates died on the postpartum first day. The postnatal diagnosis of 60 of the 108 (55.5%) patients who gave birth was concordant with the prenatal diagnosis, and 32 of the 108 (29.6%) babies underwent surgical interventions.Conclusion:CNS anomalies have a broad spectrum and variable prognoses. This study highlights the limitations of prenatal diagnoses, and the need for parents to have this information in order to determine the course of their pregnancy and prepare themselves for the postnatal challenging treatment/rehabilitation process.

Three Cases of Hypoventilation in the First Decade with an Unusual Presentation and Rare Etiology: A Case Report

Introduction: Alveolar hypoventilation is defined as insufficient ventilation. The primary feature of this disorder is insufficient sleep-related ventilation. The differential diagnosis of pediatric hypoventilation includes congenital central hypoventilation syndrome (CCHS), ROHHAD syndrome, Chiari malformation, Prader-Willi syndrome (PWS), and neuromuscular disorders (e.g. congenital myopathy, brain trauma, and central nervous system tumors). Case Presentation: In this article, we report two cases of hypoventilation in the first decade of life with abnormal presentations (e.g., arterial and venous thrombosis). We also present a case of hypoventilation with an uncommon etiology and compare the therapeutic strategies for these patients. Conclusions: The aim of this case report was to raise awareness of this unusual presentation of ROHHAD syndrome. Due to the low incidence of this syndrome, further studies are warranted to collect more information about its pathophysiology and symptoms. In addition, we noticed a rare etiology of hypoventilation (brain trauma).