Malformation of the Brain, Skull, and Spine

Abnormal development of the central nervous system is a common cause of developmental delay and epilepsy. An understanding of central nervous system malformation begins with an overview of normal embryology. Genetic advances in embryogenesis have unfolded a complex orchestration of gene expressions in place of the traditional developmental epochs (induction, neurulation, proliferation, migration, organization, synaptogenesis, and myelination). Causes of malformation of the central nervous system are multifactorial. Genetic causes, vitamin excess or deficiency, infections, or teratogens any time during pregnancy may disturb the preprogrammed mechanisms.

Prediction and Value of Ultrasound Image in Diagnosis of Fetal Central Nervous System Malformation under Deep Learning Algorithm

This study was to explore the application of deep learning neural network (DLNN) algorithms to identify and optimize the ultrasound image so as to analyze the effect and value in diagnosis of fetal central nervous system malformation (CNSM). 63 pregnant women who were gated in the hospital were suspected of being fetal CNSM and were selected as the research objects. The ultrasound images were reserved in duplicate, and one group was defined as the control group without any processing, and images in the experimental group were processed with the convolutional neural network (CNN) algorithm to identify and optimize. The ultrasound examination results and the pathological test results before, during, and after the pregnancy were observed and compared. The results showed that the test results in the experimental group were closer to the postpartum ultrasound and the results of the pathological result, but the results in both groups showed no statistical difference in contrast to the postpartum results in terms of similarity ( P > 0.05 ). In the same pregnancy stage, the ultrasound examination results of the experimental group were higher than those in the control group, and the contrast was statistically significant ( P < 0.05 ); in the different pregnancy stages, the ultrasound examination results in the second trimester were more close to the postpartum examination results, showing statistically obvious difference ( P < 0.05 ). In conclusion, ultrasonic image based on deep learning was higher in CNSM inspection; and ultrasonic technology had to be improved for the examination in different pregnancy stages, and the accuracy of the examination results is improved. However, the amount of data in this study was too small, so the representative was not high enough, which would be improved.

Poland Syndrome with Atypical Malformations Associated to a de novo 1.5 Mb Xp22.31 Duplication

Poland's syndrome (PS; OMIM 173800) is a rare congenital syndrome which consists of absence or hypoplasia of the pectoralis muscle. Other features can be variably associated, including rib defects. On the affected side other features (such as of breast and nipple anomalies, lack of subcutaneous tissue and skin annexes, hand anomalies, visceral, and vertebral malformation) have been variably documented. To date, association of PS with central nervous system malformation has been rarely reported remaining poorly understood and characterized. We report a left-sided PS patient carrying a de novo 1.5 Mb Xp22.31 duplication diagnosed in addiction to strabismus, optic nerves and chiasm hypoplasia, corpus callosum abnormalities, ectopic neurohypophysis, pyelic ectasia, and neurodevelopmental delay. Since, to our knowledge, this features' association has not been previously reported, we argue that this case may contribute to further widening of the variability of PS phenotype.

Neurologic Involvement in Primary Immunodeficiency Disorders

The nervous system may be affected in primary immune deficiency (PID) syndromes through infectious, autoimmune, neoplastic mechanisms, or as a primary feature of the syndrome. However certain neurologic problems do not conform to these etiopathogenetic groups. We retrospectively examined PID patients seen in neurology consultation between 2014 and 2017 in order to determine the spectrum of nervous system involvement. Among patients with confirmed neurologic problems (n = 35), common manifestations were encephalopathy and global developmental/cognitive delay. In 13 (37%) instances, the neurologic signs had no apparent relation with a treatment-related, infectious, or vascular complication and were considered as primary findings: acquired microcephaly, central nervous system malformation, or peripheral neuropathy. The diagnosis of PID was made after, and based on, the neurologic manifestation in 6 of 35 (17%) patients. Neurologic presentation may constitute the initial manifestation in some types of primary immune deficiency.

Spina Bifida: Pathogenesis, Mechanisms, and Genes in Mice and Humans

Spina bifida is among the phenotypes of the larger condition known as neural tube defects (NTDs). It is the most common central nervous system malformation compatible with life and the second leading cause of birth defects after congenital heart defects. In this review paper, we define spina bifida and discuss the phenotypes seen in humans as described by both surgeons and embryologists in order to compare and ultimately contrast it to the leading animal model, the mouse. Our understanding of spina bifida is currently limited to the observations we make in mouse models, which reflect complete or targeted knockouts of genes, which perturb the whole gene(s) without taking into account the issue of haploinsufficiency, which is most prominent in the human spina bifida condition. We thus conclude that the need to study spina bifida in all its forms, both aperta and occulta, is more indicative of the spina bifida in surviving humans and that the measure of deterioration arising from caudal neural tube defects, more commonly known as spina bifida, must be determined by the level of the lesion both in mouse and in man.