Congenital Malformations Of 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.

Epidemiological trends of isolated and non-isolated central nervous system congenital malformations in live births in a middle-income setting

ObjectivesThis study aimed to analyze, in the São Paulo state of Brazil, time trends in prevalence, neonatal mortality, and neonatal lethality of central nervous system congenital malformations (CNS-CM) between 2004 and 2015.MethodsPopulation-based study of all live births with gestational age ≥22 weeks and/or birthweight ≥400 g from mothers living in São Paulo State, during 2004–2015. CNS-CM was defined by the presence of International Classification Disease 10th edition codes Q00–Q07 in the death and/or live birth certificates. CNS-CM was classified as isolated (only Q00–Q07 codes), and non-isolated (with congenital anomalies codes nonrelated to CNS-CM). CNS-CM associated neonatal death was defined as death between 0 and 27 days after birth in infants with CNS-CM. CNS-CM prevalence, neonatal mortality, and lethality rates were calculated, and their annual trends were analyzed by Prais-Winsten Model. The annual percent change (APC) with 95% confidence interval (95%CI) was obtained.Results7,237,628 live births were included in the study and CNS-CM were reported in 7526 (0.1%). CNS-CM associated neonatal deaths occurred in 2935 (39.0%). Isolated CNS-CM and non-isolated CNS-CM were found respectively in 5475 and 2051 livebirths, with 1525 (28%) and 1410 (69%) neonatal deaths. CNS-CM prevalence and neonatal lethality were stationary, however neonatal mortality decreased (APC −1.66; 95%CI −3.09 to −0.21) during the study. For isolated CNS-CM, prevalence, neonatal mortality, and lethality decreased over the period. For non-isolated CNS-CM, the prevalence increased, neonatal mortality was stationary, and lethality decreased during the period. The median time of CNS-CM associated neonatal deaths was 18 h after birth.ConclusionsDuring a 12-year period in São Paulo State, Brazil, neonatal mortality of infants with CNS-CM in general and with isolated CNS-CM showed a decreasing pattern. Nevertheless CNS-CM mortality remained elevated, mostly in the first day after birth.

Патологія провізорних органів, ускладнення вагітності, пологів і стан малюків при вроджених вадах сечовидільної та нервової систем

Congenital malformations (CM) in fetuses and neonates belong to main causes of perinatal morbidity and mortality. Provision organs malformation and malfunction in such cohorts is less studied. The purpose - to analyze the course of pregnancy, the data of ultrasound imaging of provisional organs in the presence of CM of central nervous system (CNS) and/or of nephro-urinary system (NUS) in the fetus and newborn. Materials and methods. The results of prenatal and postnatal ultrasound, anamnestic and general clinical data of a sample of cases with prenatally diagnosed CM of CNS and/or NUS for the period 2017-2021 were analyzed. Results. There were 45 newborns with CNS malformations, and 54 newborns with CM of NUS. Malformations of NUS and/or CNS in the examined newborns were combined with anomalies of other systems in a third of cases - 29.6% and 31.1%, respectively. According to the results of prenatal ultrasound examinations, polyhydramnios (16.7%) was most often recorded in the pregnancies with fetal CM of NUS, and cases of fetal CM of CNS most commonly were registered placental hyperplasia (35.6%), fetal growth retardation (24.4%) and fetal distress (26.7%). Postnatally in both cohorts (with NUS malformations and with CNS malformations) a high rate of following complications were recorded: prematurity (16.7% and 15.6%, respectively), birth asphyxia (48% and 55.6%, respectively), and early neonatal death (11% and 6.6%). Сonclusions. Pregnant women with CM of CNS and/or NUS in the fetus belong to the group of high perinatal risk because of the high rate of perinatal complications. Information about the identified high perinatal risks in fetuses and newborns with CM of the CNS and/or NUS should be provided to parents and taken into account when planning management of pregnancy and labor.

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.

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.

Comparative Study between the Role of Two dimensional and Three dimensional Ultrasound in Assessment of Fetal Central Nervous System Congenital Anomalies

ABSTRACT Objective: This study aimed to evaluate the role of three dimensional (3D) ultrasound compared with two dimensional (2D) ultrasound in diagnosis of fetal central nervous system congenital malformations. Patients and Methods: this Prospective study was performed on total 100 patients with gestational age from 18 weeks to 24 weeks who underwent 2D ultrasound then examined by 3D ultrasound at Obstetrics and Gynecology Department, Bab el-Sheria, Al-azhar University Hospital. Results: Statistical analysis revealed that the most common neurological malformations detected were Holoprosencephaly and Anencephaly which had significant high agreement between 2D and 3D regarding their diagnosis. There was significant agreement between 2D and 3D regarding the congenital fetal spinal and cranial malformations. The 2D and 3D ultrasound provided equal diagnostic information in microcephaly while 3D US provided more diagnostic information than 2D US for Choroid plexus cyst, agenesis of the corpus callosum and spina bifida. Our study revealed that the 3D US was superior to 2D US in identifying small cranial malformations as choroid plexus cyst and the spine e.g Spina bifida. Conclusion: In comparison with 2D US, 3D US improves the diagnostic capability by illustrating more diagnostic details in evaluation of malformations of the fetus, especially in visualization of fetal malformations of the small cranial anomalies and spina bifida . In addition to 2D US, 3D US is a valuable adjunct in prenatal detection of anomalies.

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.

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

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.

Factors Associated With Lack of Vision Improvement in Children With Cortical Visual Impairment.

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.

Fatores Clínico-Epidemiológicos e Ultrassonográficos Associados às Malformações Congênitas do Sistema Nervoso Central

Objetivo: Estudos associam a presença de malformações congênitas do sistema nervoso central (SNC) a determinados fatores. Assim, buscou-se determinar os fatores associados à presença de malformações congênitas do SNC em recém-nascidos. Métodos: estudo caso-controle, incluindo pacientes do Estudo Colaborativo Latino-Americano de Malformações Congênitas (ECLAMC). Foram analisadas variáveis maternas, gestacionais, neonatais, ambientais e ultrassonográficas. A associação entre a anomalia congênita e os fatores estudados foi estimada por “Odds Ratio” (OR). Resultados: As variáveis idade e escolaridade dos pais, número de gestações, consultas e ultrassonografias, idade gestacional, imunizações, doenças e hábitos de vida maternos, exposição a teratógenos e a fatores ambientais, hábitos de vida, uso de ácido fólico, sulfato ferroso e polivitamínicos, bem como peso e sexo do recém-nascido não demonstraram diferença significativa na frequência entre os grupos. Os fatores significativamente associados às malformações foram os antecedentes de malformação congênita do SNC na família (1º e 2º graus) e o registro de oligodrâmnio absoluto ou relativo na ultrassonografia obstétrica (OR= 5,33 e p= 0,03; OR= 8,42 e p= 0,05). Conclusão: Malformação familiar congênita do SNC (1º e 2º graus) e oligodrâmnio relativo ou absoluto foram considerados fatores associados com a presença de malformações congênitas do SNC. A investigação de aspectos relacionados à presença destas malformações permite estabelecer grupos com fatores associados, diagnosticar precocemente e promover ações de saúde pertinentes que visem à prevenção primária e secundária, com importantes repercussões prognósticas neonatais.

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

Central nervous system (CNS) malformations, including neural tube defects (NTDs), are the second most common type of birth defects worldwide and are major causes of childhood disability and mortality. We report the first analysis of birth prevalence in Western Honduras of CNS malformations including NTDs over 6 consecutive years. Data from all patients with congenital CNS malformations and total live births for the period 2010-2015 were obtained through institution and regional registries from all 3 public referral hospitals in Western Honduras, representing 67 municipalities. Cases were identified using the International Classification of Diseases, Tenth Revision CNS malformation codes. Birth prevalence was calculated as cases per 10,000 live births. From 123,903 live births, 275 cases of CNS malformations were identified (54% females, 58% NTDs). Six-year birth prevalence of CNS malformations was 13.9-31.1. Spina bifida variants and anencephaly represented 80% and 19% of reported NTDs, respectively. Total 6-year prevalence of NTDs in Western Honduras was 7.0-17.4 over years studied. In 6 municipalities, average prevalence was >30 (maximum 49.0). This is the first study reporting disease burden of CNS malformations in Western Honduras. The nationwide birth prevalence of NTDs in rural Honduras may have decreased since the implementation of prenatal health policies in 2005. However, we identified regions with unexpectedly elevated prevalence, indicating high regional prevalence that could be targeted for improved preventive efforts, ultimately decreasing the burden of these conditions.

Clinical Trials of Therapeutics for the Prevention of Congenital Zika Virus Disease: Challenges and Potential Solutions.

Zika virus (ZIKV) infection in pregnancy is associated with adverse fetal outcomes, such as microcephaly and other congenital malformations. No therapeutic options are available to pregnant women with ZIKV infection to prevent these effects. Drug trials in pregnancy raise several scientific, ethical, and logistic challenges, which are compounded further in ZIKV because of limited knowledge of the disease pathophysiology and a product development pipeline in its infancy. We evaluate the major challenges in choosing therapeutics to prevent congenital ZIKV disease and conducting clinical trials of these treatments, with a focus on preventing congenital central nervous system malformations. These challenges must be characterized and planned for now so that clinical trials can progress expediently and effectively in the future.

Long-term outcome in children with prenatally diagnosed central nervous system congenital malformations

Long-term outcome in children with prenatally diagnosed central nervous system congenital malformations

Pathology of congenital Zika syndrome in Brazil: a case series

Zika virus is an arthropod-borne virus that is a member of the family Flaviviridae transmitted mainly by mosquitoes of the genus Aedes. Although usually asymptomatic, infection can result in a mild and self-limiting illness characterised by fever, rash, arthralgia, and conjunctivitis. An increase in the number of children born with microcephaly was noted in 2015 in regions of Brazil with high transmission of Zika virus. More recently, evidence has been accumulating supporting a link between Zika virus and microcephaly. Here, we describe findings from three fatal cases and two spontaneous abortions associated with Zika virus infection. In this case series, formalin-fixed paraffin-embedded tissue samples from five cases, including two newborn babies with microcephaly and severe arthrogryposis who died shortly after birth, one 2-month-old baby, and two placentas from spontaneous abortions, from Brazil were submitted to the Infectious Diseases Pathology Branch at the US Centers for Disease Control and Prevention (Atlanta, GA, USA) between December, 2015, and March, 2016. Specimens were assessed by histopathological examination, immunohistochemical assays using a mouse anti-Zika virus antibody, and RT-PCR assays targeting the NS5 and envelope genes. Amplicons of RT-PCR positive cases were sequenced for characterisation of strains. Viral antigens were localised to glial cells and neurons and associated with microcalcifications in all three fatal cases with microcephaly. Antigens were also seen in chorionic villi of one of the first trimester placentas. Tissues from all five cases were positive for Zika virus RNA by RT-PCR, and sequence analyses showed highest identities with Zika virus strains isolated from Brazil during 2015. These findings provide strong evidence of a link between Zika virus infection and different congenital central nervous system malformations, including microcephaly as well as arthrogryposis and spontaneous abortions. None.

Congenital Brain and Spinal Cord Malformations and Their Associated Cutaneous Markers

The brain, spinal cord, and skin are all derived from the embryonic ectoderm; this common derivation leads to a high association between central nervous system dysraphic malformations and abnormalities of the overlying skin. A myelomeningocele is an obvious open malformation, the identification of which is not usually difficult. However, the relationship between congenital spinal cord malformations and other cutaneous malformations, such as dimples, vascular anomalies (including infantile hemangiomata and other vascular malformations), congenital pigmented nevi or other hamartomata, or midline hairy patches may be less obvious but no less important. Pediatricians should be aware of these associations, recognize the cutaneous markers associated with congenital central nervous system malformations, and refer children with such markers to the appropriate specialist in a timely fashion for further evaluation and treatment.

Urodynamic Findings and Renal Function in Children with Neurogenic Bladder after Myelomeningocele

Introduction: Myelomeningocele (MMC) is a congenital central nervous system malformation caused by a failure of the neurulation process in early pregnancy. Patients with MMC present many abnormalities and the nervous, skeletal and urinary systems are the most affected. The aim of this study was to clinically evaluate patients with MMC, estimate renal and lower urinary tract (LUT) function and to ascertain whether urodynamic findings can predict the deterioration of urinary tract function. Materials and Methods: Medical records of 112 patients were gathered from a database and evaluated retrospectively. The data included age, sex, BMI Z-score WHO, physical activity, urodynamic parameters and diagnosis and renal function. Results: A total of 112 patients with MMC were enrolled in the study. There were no differences in age, sex, BMI Z-score WHO, physical activity, renal function and urodynamic findings (apart from cystometric capacity) between boys and girls. Detrusor overactivity was the most frequent urodynamic diagnosis in all groups of physical activity, level of lesion and in catheterized and non-catheterized children. The correlations between urodynamic findings and renal function tests were found. Conclusions: Patients with neurogenic bladder after MMC most often present detrusor overactivity. LUT function is disturbed in all MMC patients independent of lesion level and physical activity.

Prevalence and Factors Associated at Presence of Central Nervous System Congenital Malformations

Introduction: Congenital malformations are currently an important cause of morbidity and mortality in many countries, though in most cases their etiology is unknown. The central nervous system (CNS) is involved in many of these defects. Original Research Article Porto et al.; BJMMR, 6(10): 956-964, 2015; Article no.BJMMR.2015.272 957 Objective: To study the factors associated with CNS congenital malformations and their prevalence in infants born at a high risk maternity hospital in Northeastern Brazil. Materials and Methods: A case-control study performed from January 2010 to December 2011, with data from The Latin American Collaborative Study of Congenital Malformations. Results: Among the 8.405 registered births, 187 were malformed newborns (2.2%). Nervous system malformations were diagnosed in 61 patients (32.6% (CI = 95% 27.5 to 38.0)), the most frequent being neural tube defects and congenital hydrocephaly. Previous history of miscarriage and/or stillbirth (p = 0.008), family history of malformations (p < 0.001) and parental consanguinity (p = 0.028) are associated with CNS malformation. Environmental factors such as maternal chronic diseases, smoking, exposure to teratogenic drugs and alcohol presented no statistically significant differences. Conclusions: The genetic component was an important contributing factor to the etiology of the malformations studied.

Influence of congenital central nervous system malformations on postoperative complications following placement of cerebrospinal fluid shunts in pediatric and adolescent patients

This retrospective study was designed to evaluate whether patients with hydrocephalus associated with central nervous system (CNS) anomalies, compared with patients with hydrocephalus and absent CNS anomalies, present with significantly higher rate of postoperative complications, including more serious clinical presentation, increased life threat, and higher postoperative or late mortality rate. We performed a retrospective study using medical records of 100 patients of pediatric and adolescent age (0-18 years) between 2004 and 2010 treated with operative cerebrospinal fluid (CSF) shunt placement. In both groups of patients, there were 43 postoperative complications, including 12 mechanical obstructions of the CSF drainage systems, 13 disconnections, 11 dislocations of proximal catheter, 6 inflammatory complications (meningitis), and 1 latex allergy. Patients with hydrocephalus associated with CNS anomalies were presented with statistically higher rate of postoperative complications (U = 303.5, z = -3.27, p = 0.001), higher number of operations, at least one complication more per patient, more complicated clinical course, higher life threat, and higher late mortality rate. After installing the CSF drain system, children and adolescents with hydrocephalus associated with anomalies of the CNS require regular and careful follow-up.

Incidental discovery of subtle-variant septooptic dysplasia in an adult with headaches: a novel case with pathophysiologic implications

Septooptic dysplasia (SOD) is a congenital central nervous system malformation syndrome classically associated with the triad of agenesis of the septum pellucidum, optic nerve hypoplasia, and pituitary abnormalities. It has been suggested that SOD may result from in utero vascular insults. We present the case of an adult male with personal and family histories of intracranial vascular pathology in whom SOD was incidentally discovered, and we describe how the specific abnormalities in this case could be related to vascular pathology.