Epidemiology of Epileptic Spasm and Affecting Factors on One-Year Prognosis: A Study in Tabriz Children’s Hospital

Improvement in vision has been noted in children with cortical visual impairment (CVI), resulting from disparate types of brain injury. The purpose of our study was to determine the risk factors associated with poor recovery of vision in this group of patients. Case records of children who were born before 2010 with at least 4 follow-up visits for CVI were reviewed for underlying etiologies of CVI, visual acuity (VA), and associated neurological and ophthalmological disorders. VA was assessed in 6 qualitative grades. Changes in VA were recorded as the difference between the grades of VA at presentation and the last follow-up visit. The outcome was calculated as a ratio of actual improvement to potential improvement in grades of qualitative VA. Multiple linear regression determined factors associated with lack of vision improvement in all children and based on etiology. Fifty-three children with CVI were identified. The median age at presentation was 13.6 months (range: 2.9-76.4 months) and the median follow-up was 5.8 years (1.1-16.3 years). CVI resulted from central nervous system (CNS) malformation (9.4%), hypoxic/inflammatory injury (15.1%), seizures (24.5%), and combined causes (51.0%). Vision improvement was noted in 83% of children. Lack of VA improvement was associated with older age at presentation in all children with CVI and within each etiological group except CNS malformation. None of the other investigated variables were associated with poor recovery of VA. Most of the children with CVI showed improvement in vision. Older age at presentation, but not etiology of CVI, was associated with poor improvement in VA.

Obstetrical & Gynecological Survey: July 2003 - Volume 58 - Issue 7 - p 447-448 doi: 10.1097/01.OGX.0000074324.21235.1F

Objective To explore the diagnostic value of ultrasound imaging for fetal central nervous system(CNS) malformation in early pregnancy. Methods From January 2017 to January 2018, a total of 190 cases of CNS malformation in early pregnancy, who were diagnosed by ultrasound imaging in Wenzhou Hospital of Integrated Traditional Chinese and Western Medicine were selected to analyze the clinical value of ultrasound imaging in the diagnosis of fetal CNS malformation in early pregnancy. Results Of the 190 pregnancies, 184 patients had satisfactory median sagittal section of the head and chest, horizontal cross section of the lateral ventricle, long axis of the spine, and cerebellum and posterior fossa pool.In 184 cases, the probability of display from 1 to 11+ 6 weeks was 93.33%, the probability of display from 12 to 12+ 6 weeks was 97.20%, and the probability of display from 13 to 13+ 6 weeks was 97.06%.Compared the display rates of CNS ultrasound examinations at different gestational weeks, the difference was not statistically significant (χ2=0.981, P>0.05). Three cases of 6 cases of CNS malformation diagnosed in early pregnancy were combined with other malformations.One case considered Cantrell's hypothyroidism with CNS malformation, 1 case with left iliac crest and right circumflex, 1 case with median cleft lip and palate, single atrioventricular with pulmonary atresia.The bilateral humerus was missing, in addition, 4 fetuses had an NT value more than 3 mm.The specificity of diagnosis of fetal CNS malformation in early pregnancy was 100.00%, the sensitivity was 85.71%, the specificity was 100.00%, and the positive predictive value was 99.46%. Conclusion Ultrasound imaging in the diagnosis of fetal CNS malformation in early pregnancy can improve the diagnosis rate and has high clinical value. Key words: Ultrasonography; Pregnancy trimester, first; Fetus; Central nervous system; Congenital abnormalities; Prenatal diagnosis; Contrast sensitivity

Central nervous system (CNS) malformations represent important factor of morbidity and mortality in children. The aim of the study was to determine the incidence, type and clinical features of CNS malformations in children who were admitted at the Neonatal and Child Neurology Department, Neonatal Intensive Care Unit and Paediatric Intensive Care Unit of Paediatric Clinic, University of Sarajevo Clinics Centre, from January 1st, 2002 to December 31st, 2006. There were total of 16520 admissions at the Paediatric Clinic over the studied period. CNS malformations, solitary or multiple, have been diagnosed in 100 patients (0,61%). The total number of various CNS malformations was 127. Lethal outcome was established in 9/100 cases (9%). The most frequent CNS malformations were neural tube defects 49/127 (38,6%). Hydrocephalus was seen in 34/127 (26,8%), microcephaly in 24/127 (18,9%), agenesis of corpus callosum in 10/127 (7,9%), Dandy Walker malformation in 6/127 (4,7%) and other CNS malformations in 4/127 (3,1%). In 20/100 of patients neural tube defect was associated with hydrocephalus (20%). CNS malformations were prenatally diagnosed in 13/100 of patients (13%). Primary prevention of CNS malformations can be improved in our country by better implementation of preconceptional folic acid therapy for all women of childbearing age. Secondary prevention by prenatal diagnosis requires advanced technical equipment and adequate education of physicians in the field of foetal ultrasonography. In our circumstances, prenatal diagnostics of CNS malformations is still not developed enough.

A case of malformations of the fetal central nervous system following hypervitaminosis A in early pregnancy is reported. The mother was treated with 150 000 IU vitamin A daily during gestation days 19 to 40. Determination of urinary oestriol carried out in the 42nd week of pregnancy revealed a very low excretion (4.2-6.6) mumol/24 h). Induced delivery resulted in a microcephalic child who died after 18 min. The child had multiple malformations of the central nervous system and very small adrenal glands (1.5 g; normal 11 +/- 4 g). The very low urinary oestriol excretion is well explained by the hypoplastic adrenals, which in turn can be related to insufficient ACTH stimulation, a condition similar to anencephaly. The malformations shown in the present case are considered to be related to the high doses of vitamin A given to the mother, and the authors wish to warn against uncritical use of high doses of vitamin A in whomen of childbearing age.

Substantial literature but no consensus of opinion exists on the associations between central nervous system (CNS) malformations and birth order and maternal age. These notes may serve to emphasize this disunity providing possibly a representative survey. The Registrars General of England and Wales and of Scotland publish the number of anencephalic stillbirths spina bifida stillbirths hydrocephalic stillbirths and all stillbirths occurring annually. They classify the data by parity and by maternal age. In the data for both Scotland and England and Wales the proportion of stillbirths which are anencephalic and hydrocephalic diminishes with both maternal age and parity. In the data for Scotland the proportion of stillbirths which are due to spina bifida seems not to show such clear evidence of trend but when the data for Scotland and England and Wales are pooled a similar trend shows clearly. Several explanations can be offered to explain the decline in the proportion of stillbirths which are due to CNS malformations: there may be a positive maternal age (or birth order) effect among stillbirths which causes other than CNS malformations; a CNS malformation stillbirth may deter further reproductive effort to a greater extent than do other stillbirths; women prone to bear CNS malformation stillbirths may be less fertile than other stillbirth prone women; and there may really be a negative maternal age (or birth order) effect in each of the major CNS malformations. It is argued that the 1st 2 suggestions are inadequate to explain the decline in the CNS malformation stillbirth proportions. Regarding differential fertility Dr. H.B. Newcombe provided raw data on this point. The data refer to 2340 sibships in British Columbia which produced at least 1 stillborn infant during the 1953-58 period. Among these were 197 sibships which produced an anencephalic stillbirth 68 of which produced a hydrocephalic stillbirth and 37 in which spina bifida was recorded either as the primary or secondary cause of a stillbirth. From fthese data all sibships in which the last stillbirth occurred within 280 days of the end of 1958 and all sibships in which the stated birth order maternal age and duration of follow-up were not in conformity were eliminated. This left 2018 sibships. It is possible to calculate the frequencies of subsequent maternities expected to occur in the CNS stillbirth sibships on the hypothesis that overall fertility in these sibships does not differ from that in the sibships of all stillbirths. The figures were so small that one cannot conclude with any certainty that any fertility differentials exist at all.

Background & objectives:Prenatal diagnosis of malformations is an important method of prevention and control of congenital anomalies with poor prognosis. Central nervous system (CNS) malformations amongst these are the most common. The information about the prevalence and spectrum of prenatally detected malformations is crucial for genetic counselling and policymaking for population-based preventive programmes. The objective of this study was to study the spectrum of prenatally detected CNS malformations and their association with chromosomal abnormalities and autopsy findings.Methods:This retrospective study was conducted in a tertiary care hospital in north India from January 2007 to December 2013. The details of cases with prenatally detected CNS malformations were collected and were related with the foetal chromosomal analysis and autopsy findings.Results:Amongst 6044 prenatal ultrasonographic examinations performed; 768 (12.7%) had structural malformations and 243 (31.6%) had CNS malformations. Neural tube defects (NTDs) accounted for 52.3 per cent of CNS malformations and 16.5 per cent of all malformations. The other major groups of prenatally detected CNS malformations were ventriculomegaly and midline anomalies. Chromosomal abnormalities were detected in 8.2 per cent of the 73 cases studied. Foetal autopsy findings were available for 48 foetuses. Foetal autopsy identified additional findings in eight foetuses and the aetiological diagnosis changed in two of them (4.2%).Interpretation & conclusions:Amongst prenatally detected malformations, CNS malformations were common. NTD, which largely is a preventable anomaly, continued to be the most common group. Moreover, 60 per cent of malformations were diagnosed after 20 weeks, posing legal issues. Chromosomal analysis and foetal autopsy are essential for genetic counselling based on aetiological diagnosis.

BACKGROUNDPrenatal examination is an important measure for the screening and diagnosis of fetal malformations.AIMTo investigate the accuracy of ultrasonography in the diagnosis of fetal central nervous system (CNS) malformations.METHODSOne hundred and thirteen pregnant women suspected of having fetal CNS malformations were examined at our hospital from December 2018 to October 2020 using two-dimensional ultrasonography and three-dimensional ultrasonography, respectively. RESULTSAccording to the pathological results, there were 79 cases of CNS malformations and 34 cases of non-CNS malformations among the 113 pregnant women suspected of having fetal CNS malformation. Fifty-one cases of CNS malformation and 26 cases of non-CNS malformation were detected by two-dimensional ultrasonography, and 73 cases of CNS malformation and 30 cases of non-CNS malformation were detected by three-dimensional ultrasonography. The diagnostic sensitivity (92.41%) and accuracy (91.15%) of three-dimensional ultrasonography were higher than those of two-dimensional ultrasonography (64.56% and 68.14%, respectively) (P = 0.000). The specificity of three-dimensional ultrasonography (88.24%) was higher than that of two-dimensional ultrasonography (76.47%); however, the difference was not significant (P = 0.203). CONCLUSIONThree-dimensional ultrasonography has high application value in the diagnosis of fetal CNS malformations. In addition, the image quality is clear, and the diagnostic sensitivity and accuracy are high.

Introduction: Central Nervous System (CNS) malformations usually leave the family in disarray and doctors’ staff powerless. In developed countries, the rigorous application of preventive measures has contributed to a significant reduction incidence of these malformations. In African societies, mystical-religious considerations and low socio-economic level contribute to the increased occurrence of these malformations. The purpose of this work was to evaluate the prevalence and management of CNS malformations in our neurosurgical department. Methods: This was a retrospective study conducted in the neurosurgery department of Yalgado Ouedraogo Teaching Hospital, in Ouagadougou, from 2016 to 2019. All cases of CNS malformations managed in the department with a workable medical record were reviewed. Results: Five hundred and twenty-four cases were selected. The prevalence of malformations was 7.05%. The mean age of patients was 1.48 years (1 day and 76 years). Thirty-one (5.9%) cases of CNS malformations were diagnosed antenatally. One hundred and twenty-four (23.6%) ultrasounds (including 51 antenatal), 418 CT scans (79.7%) and 9 MRIs (1.7%) were performed. Hydrocephalus [(n = 219 (41.7%)] and spina bifida [(n = 213 (40.6%)] were the most common pathologies. Surgical treatment was indicated in 435 cases (83%) of which 179 (41.1%) could be operated. After a follow-up of 15.8 months, there were 46.3% sequelae identified. Conclusion: CNS malformations are common in our context. They are not always prone to be treated surgically and are at the origin of many neurological sequelae and lifelong disability. Hence there is an urgent need to focus on improving preventive measures in Sub-Saharan Africa.

This study was undertaken to provide an estimate of the recurrence risk of central nervous system (CNS) malformation in families with two or more affected children. The hospital records and the records of the Genetic Counseling Clinics were examined for instances where a child born between 1962 to 1973 had spina bifida and anencephalus and was documented as having an affected elder sib; such children were taken as index patients. Parents of 76 families with 89 index patients were interviewed. Fifty-one index patients had younger sibs; of 85 younger sibs, 12 had spina bifida and six anencephalus (1 in 4.7). Little variation was observed in the proportion of subsequent children affected with the type of lesion in the index patient and the affected older sib. Ten index patients with two older affected sibs had 14 subsequent sibs of whom four had a CNS malformation (1 in 3.5). For the purpose of genetic counselling it was suggested that the risk after two and three children with CNS malformations in Northern Ireland was 1 in 5 and 1 in 4, respectively.

ISUOG Practice Guidelines (updated): sonographic examination of the fetal central nervous system. Part 2: performance of targeted neurosonography.

Congenital Malformations of the Central Nervous System in Rural Western Honduras: A 6-Year Report on Trends.

Aims and Objectives:To describe clinicopathological features of surgically resected vascular malformations (VMs) of central nervous system (CNS).Materials and Methods:Histologically diagnosed cases of VMs of CNS during April 2010–April 2014 were included. Demographic data, clinical and radiological features were obtained. Hematoxylin and eosin slides were reviewed along with Verhoeff-Van Gieson (VVG), Masson's trichrome, periodic acid-Schiff, and Perls' stains. Morphologically, cavernomas and arteriovenous malformations (AVMs) were distinguished on the basis of vessel wall features on VVG and intervening glial parenchyma.Results:Fifty cases were diagnosed as VMs of CNS with an age range of 14–62 years. These included 36 cavernomas, 12 AVMs, 2 mixed capillary-cavernous angiomas. Most of the cavernoma patients (15/36) presented with seizures, whereas AVM patients (8/12) had a headache as the dominant symptom. Twenty-nine patients were reliably diagnosed on radiological features. Microscopic evidence of hemorrhage was seen in 24/36 cavernomas and 6/12 AVMs, as opposed to radiologic evidence of 10 and 4, respectively. Reactive gliosis was seen in 16 cavernomas.Conclusions:Histological features are important for classifying the VMs of CNS as there are no specific clinical and radiological features. Type of VM has a bearing on management, prognosis, and risk of hemorrhage.

Background: Central nervous malformations are associated with major morbidity and mortality in infants and children. Knowledge of the data about their outcome and neurodisability will help in perinatal counseling and aid in parental decision-making. Objective: To study the fetal and neonatal characteristics of prenatally diagnosed central nervous system (CNS) malformations and the neurodevelopmental outcome of the survivors over 5years. Methods: Maternal and neonatal records of prenatally diagnosed CNS malformations were retrospectively reviewed over five years (January 2005 till December 2009). The relevant fetal and neonatal data were collected from the database maintained by the birth defect registry. The long-term neurodevelopment data was obtained from case records. Results: There were 116 cases of fetal structural CNS malformations. Termination of pregnancy or fetal deaths occurred in 80/116 (69%) of cases, of which 68% had Neural tube defects (NTD). There were 36 live births, of which six infants died of anencephaly and were not included in the study. Among 30 live births 17% of infants needed ventilator support and 17% had neurosurgical intervention. On follow up 37% of the cohort had neurodevelopmental delay, 10% died, 30% had normal neurodevelopmental outcome and 23% defaulted on follow-up. Conclusions: In two-thirds of the fetuses of prenatally diagnosed CNS malformations, termination of pregnancy or fetal death occurred. Nearly half of the survivors who were followed up had a composite outcome of death or global neurodevelopmental delay and need for support services.

To determine whether the presence of a single umbilical artery (SUA) is useful information for evaluating fetuses with known central nervous system (CNS) malformations, the present study reviewed 107 consecutive cases of fetal CNS malformations (hydrocephalus, meningomyelocele, Dandy-Walker malformation, and holoprosencephaly) identified by prenatal sonography. Of the 107 fetuses studied, 20 (18%) had a SUA noted at the time of delivery or autopsy and 87 (81.3%) had two umbilical arteries. Of the 20 fetuses with a SUA, six were prospectively recognized on sonography, six were identified retrospectively, and eight could not be evaluated due to oligohydramnios or technical factors. All 20 fetuses with a SUA had extra-CNS anomalies and 8 of 15 (53%) fetuses tested had chromosomal abnormalities. These rates were significantly higher (P less than .05) than observed in 87 fetuses with two umbilical arteries who had extra-CNS anomalies in 35 cases (39%) and chromosomal abnormalities in 11 of 45 (24%) cases tested. We conclude that identification of a SUA in combination with a CNS anomaly should suggest the presence of additional extra-CNS anomalies and is an indication for chromosomal analysis.