Congenital Central Nervous System Abnormalities 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.

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.

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.

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.

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.

Specific Biomarkers Associated With Neurological Complications and Congenital Central Nervous System Abnormalities From Zika Virus-Infected Patients in Brazil.

Zika virus (ZIKV) infections have been linked to different levels of clinical outcomes, ranging from mild rash and fever to severe neurological complications and congenital malformations. We investigated the clinical and immunological response, focusing on the immune mediators profile in 95 acute ZIKV-infected adult patients from Campinas, Brazil. These patients included 6 pregnant women who later delivered during the course of this study. Clinical observations were recorded during hospitalization. Levels of 45 immune mediators were quantified using multiplex microbead-based immunoassays. Whereas 11.6% of patients had neurological complications, 88.4% displayed mild disease of rash and fever. Several immune mediators were specifically higher in ZIKV-infected patients, and levels of interleukin 10, interferon gamma-induced protein 10 (IP-10), and hepatocyte growth factor differentiated between patients with or without neurological complications. Interestingly, higher levels of interleukin 22, monocyte chemoattractant protein 1, TNF-α, and IP-10 were observed in ZIKV-infected pregnant women carrying fetuses with fetal growth-associated malformations. Notably, infants with congenital central nervous system deformities had significantly higher levels of interleukin 18 and IP-10 but lower levels of hepatocyte growth factor than those without such abnormalities born to ZIKV-infected mothers. This study identified several key markers for the control of ZIKV pathogenesis. This will allow a better understanding of the molecular mechanisms of ZIKV infection in patients.

Fanconi anemia: correlating central nervous system malformations and genetic complementation groups

Congenital central nervous system abnormalities in children with Fanconi anemia are poorly characterized, especially with regard to specific genetic complementation groups. To characterize the impact of genetic complementation groups on central nervous system anatomy. Through chart review we identified 36 patients with Fanconi anemia with available brain MRIs at the University of Minnesota (average age, 11.3years; range, 1-43 years; M:F=19:17), which we reviewed and compared to 19 age- and sex-matched controls (average age, 7.9years; range, 2-18 years; M:F=9:10). Genotypic information was available for 27 patients (15 FA-A, 2 FA-C, 3 FA-G, and 7 FA-D1 [biallelic mutations in BRCA2 gene]). Of the 36 patients, 61% had at least one congenital central nervous system or skull base abnormality. These included hypoplastic clivus (n=12), hypoplastic adenohypophysis (n=11), platybasia (n=8), pontocerebellar hypoplasia (n=7), isolated pontine hypoplasia (n=4), isolated vermis hypoplasia (n=3), and ectopic neurohypophysis (n=6). Average pituitary volume was significantly less in patients with Fanconi anemia (P<0.0001) than in controls. Basal angle was significantly greater in Fanconi anemia patients (P=0.006), but the basal angle of those with FA-D1 was not significantly different from controls (P=0.239). Clivus length was less in the Fanconi anemia group (P=0.002), but significance was only observed in the FA-D1 subgroup (P<0.0001). Of the seven patients meeting criteria for pontocerebellar hypoplasia, six belonged to the FA-D1 group. Patients with Fanconi anemia have higher incidences of ectopic neurohypophysis, adenohypophysis hypoplasia, platybasia and other midline central nervous system skull base posterior fossa abnormalities than age- and sex-matched controls. Patients with posterior fossa abnormalities, including pontocerebellar hypoplasia, are more likely to have biallelic BRCA2 mutations.

The role of respiratory failure caused by congenital central nervous system abnormalities and the effect of β-casomorphins in sudden infant death syndrome pathogenesis.

The aim of the paper is to discuss the role of respiratory failure caused by endogenous (both structural and functional) abnormalities in the central nervous system and exogenous food-derived opioid-like peptides in the pathogenesis of sudden infant death syndrome (SIDS). By stimulating μ-opioid receptors, opioid-like peptides may suppress the tonic activity of the respiratory centre in the brain stem.

Klippel-Feil syndrome associated with a craniocervico-thoracic dermoid cyst

Background:Uncommonly, Klippel–Feil syndrome (KFS) has been associated with intracranial or spinal tumors, most frequently dermoid or epidermoid cysts. Although the associated dermoid cyst (DC) is usually located in the posterior fossa, isolated upper cervical DC has been reported. Extension from the posterior fossa to the upper cervical spine (C2) has been reported once. We report a rare case of KFS in association with a posterior fossa DC that extended down to the upper thoracic spine and review the current literature.Case Description:A 47-year-old female with presented cervical myelopathy related to a cranio-cervico-thoracic DC in association with KPS-related cervicothoracic fusion (C2-T6) and thoracic kyphosis. The patient underwent complete tumor resection following sub-occipital craniectomy and C1-C4 cervical laminectomy. The patient exhibited complete resolution of symptoms with no tumor recurrence and no deformity at 6-year follow-up.Conclusion:DC should be added to the list of congenital central nervous system abnormalities, which should be sought in patients with KFS. Therefore, the presence of a cystic lesion in the posterior fossa, the craniocervical junction or the anterior cervical spine should suggest the possibility of a DC in patients with KFS. In cases of cranio-cervical DC, the tumor may extend quite far down the spinal column (reaching the thoracic spine), as demonstrated in the present case.

A pilot study evaluating the contribution of fetal MRI to prenatal sonography for the diagnosis and management of congenital central nervous system (CNS) malformations

MRI for evaluating CNS anomalies detected on antenatal sonography has not become standard practice in our unit. This pilot study was carried out to determine the frequency at which MRI...

Congenital Pituitary Gland Abnormalities—A Possible Association With Maternal Hyperglycemia: Two Case Reports

Congenital hypopituitarism (CH) occurs in 1 in 100 000 live births.1 Genetic factors, hypoperfusion, and environmental changes in utero may play causative roles.2 Maternal diabetes mellitus (DM) in relation to other congenital central nervous system abnormalities such as neural tube defects (NTDs) and hydrocephalus have been described, but an association between hyperglycemia in utero and pituitary formation has, to our knowledge, not been reported.3 We present 2 infants with CH, both born to mothers with hyperglycemia in early pregnancy. Both infants' pituitary glands are structurally identical; each has a hypoplastic anterior pituitary, an ectopic posterior pituitary located at the base of the third ventricle, and an absent pituitary stalk.

Congenital Vocal Cord Paralysis

Congenital stridor is rare. The most common presentation for congenital stridor is chronic loud breathing since birth. It is noticed in patients by the first 4 to 6 weeks of life. There are many causes of congenital stridor. Laryngomalacia is the most common cause of congenital stridor. Congenital vocal cord paralysis is the second most common cause of congenital stridor. Vocal cord paralysis in infants and children can be either congenital or acquired and either unilateral or bilateral. Although most commonly the paralysis is idiopathic, there are many causes of acquired vocal cord paralysis. Arnold-Chiari malformation is the most common congenital central nervous system abnormality resulting in vocal cord paralysis, and central nervous system abnormalities usually may cause bilateral vocal cord paralysis. In this article, we report 2 patients with idiopathic congenital vocal cord paralysis. One of them has the unilateral vocal cord paralysis, and the other, bilateral.

Fetal MRI of the central nervous system: clinical relevance

Specific conditions of the mother sometimes reduce the quality of ultrasound. In these cases, fetal magnetic resonance imaging (MRI) can be performed after gestational week (GW) 18. Interpretation of subtle disorders or malformations becomes safe not before GW 23. Clinical development of children with central nervous system (CNS) disorders is not predictable with imaging alone. Statistical evidence and personal experience of the medical team are essential in counseling, but optimized imaging is helpful in being more precise. The value of fetal MRI (fMRI) is evaluated. Twenty-five pregnant women (30.5 +/- 4.5 years) were investigated by additional fMRI. Breath-hold technique with T2 half-Fourier acquisition single-shot turbo spin-echo and T1 FLASH-2D images in three dimensions with field of view of 350 x 400 mm. All cases have been correlated with postnatal MRI, ultrasound, and clinical follow-up. In all fetuses, diagnostic MRI was performed 3-10 days after ultrasound between GW 22 and 34 (GW 26.1 +/- 3.6). Sedation was not necessary. In eight cases of suspicious ultrasound, fMRI confirmed ultrasound findings. In 13 cases, additional diagnoses or exclusions of suspected findings could be established. Complete revision of diagnosis was realized in four cases. Findings could be confirmed by postnatal MRI in 11 patients. The clinical course was not predictable in cases with ambivalent prognosis. Prenatal diagnosis of CNS pathologies should result in parental counseling. Sufficient diagnostic information, statistical data, and experience of the involved professionals are essential. These results show that in detecting congenital CNS abnormalities fMRI is superior to ultrasound and should be considered in difficult cases.

Ultrafast magnetic resonance imaging of the fetal central nervous system

This study assesses ultra-fast MR techniques in imaging congenital central nervous system abnormalities of the fetus and compares the results with other antenatal and postnatal imaging techniques. Ninety-three women, 19–36 weeks' gestation with a singleton pregnancy with known congenital abnormalities of the central nervous system, detected on antenatal ultrasound, were imaged on a 1.5T superconducting magnet. A single-shot fast-spin echo technique was used to produce T2 weighted images, acquisition time 20 seconds. Postnatal imaging or autopsies were used as the ‘gold standard’. Fetal brain MR was performed in all 93 cases and spine MR in 15. Postnatal findings or autopsy agreed with the MR findings in all but two cases (97.8% concordance). These were a case of Dandy-Walker and cortical dysplasia (the latter was not diagnosed on MR) and a case with a hemivertebra. In 47 (55%) cases there was full agreement between ultrasound and MR. In 35 (37.6%) MR altered the diagnosis. In the remaining 11 MR provided additional information. A wide range of pathologies were imaged. MR changed the diagnosis or provided essential information in three main groups: ventriculomegaly of unknown cause (33 cases referred and a cause found in 24), encephaloceles (five cases referred, one confirmed) and posterior fossa abnormalities (13 referred and a definitive answer obtained from MR in all cases).

The association between maternal smoking and fetal hydranencephaly.

To evaluate the relationship between maternal smoking and fetal congenital central nervous system malformations. Retrospective review of all cases of fetal congenital malformations of the central nervous system (CNS) identified at or shortly after birth over a 10-year period (1986-1995) in a university teaching obstetric department. The total number of CNS abnormalities identified was 79, constituting 0.13% of all deliveries over the period (n = 59,392) and 4.7% of all congenital malformations (n = 1,678). The incidence of smoking mothers was 1.64% over the study period. Four babies had hydranencephaly, 3 of these mothers being smoking teenagers. The odds ratio of having a hydranencephalic fetus in smoking mothers compared to non-smokers was 56 (95% CI 7.41-427) in the group with CNS abnormalities, 136 (95% CI 14.5-1280) in the group including all congenital malformations, and 179 (95% CI 18.6-1719) in the group including all deliveries. Maternal smoking did not appear to increase the incidence of fetal congenital CNS abnormalities overall, but might be associated with particular vascular patterns of damage to the developing brain that could predispose to a hydranencephalic malformation.

Congenital central nervous system abnormalities, idiopathic hypopituitarism and breech delivery: what is the connection?

Congenital central nervous system abnormalities, idiopathic hypopituitarism and breech delivery: what is the connection?