Encephaloceles and severe cardiac malformations are rare presentations in a newborn. The mechanism of these congenital abnormalities is relatively unknown, but it is hypothesized to be related to genetic, environmental, and maternal risk factors. This case report describes a newborn with an occipital encephalocele associated with severe right ventricular hypoplasia secondary to tricuspid and pulmonary atresia. The patient's maternal risk factors included obesity, type 2 diabetes mellitus, and everyday tobacco use during pregnancy. Education on preconception planning, management, and counseling is essential as a preventative measure in fetal development and is further emphasized in this case.
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http://dx.doi.org/10.7759/cureus.55917 | DOI Listing |
JIMD Rep
January 2025
Genetic and Metabolic Division, Pediatrics Department Tawam Hospital Al Ain UAE.
Background: Tetrahydrobiopterin (BH4) deficiencies comprise a group of five neurometabolic disorders caused by five genetic defects responsible for BH4 biosynthesis and regeneration. Their global prevalence remains unknown, and variance exists among different countries.
Aims: To describe clinical, biochemical, molecular genetic data and follow-up of patients with BH4 deficiency seen in Tawam Hospital.
Brain Behav
January 2025
BCN MedTech, Department of Information and Communication Technologies, Universitat Pompeu Fabra, Barcelona, Spain.
Purpose: The impact of ventriculomegaly (VM) on cortical development and brain functionality has been extensively explored in existing literature. VM has been associated with higher risks of attention-deficit and hyperactivity disorders, as well as cognitive, language, and behavior deficits. Some studies have also shown a relationship between VM and cortical overgrowth, along with reduced cortical folding, both in fetuses and neonates.
View Article and Find Full Text PDFChilds Nerv Syst
January 2025
Department of Global Health, Faculty of Health Sciences, McMaster University, 1280 Main St W, Hamilton, ON, L8S 4L8, Canada.
Background: A giant encephalocele associated with Chiari malformation is a rare congenital anomaly from a cephalad neural tube defect. Early prenatal diagnosis and parental counseling are essential; as early surgical intervention can improve outcomes.
Methods: Between 2010 and 2023, twenty-seven newborns out of 43,815 delivered at our institution were diagnosed with encephaloceles, including seven cases of giant encephalocele associated with Chiari malformation type III.
Curr Biol
January 2025
University of Pennsylvania, Department of Psychology, Hamilton Walk, Philadelphia, PA 19104, USA. Electronic address:
The thalamus plays a crucial role in the development of the neocortex, with the pulvinar being particularly important for visual development due to its involvement in various functions that emerge early in infancy. The development of connections between the pulvinar and the cortex constrains its role in infant visual processing and the maturation of associated cortical networks. However, the extent to which adult-like pulvino-cortical pathways are present at birth remains largely unknown, limiting our understanding of how the thalamus may support early vision.
View Article and Find Full Text PDFPLoS Biol
November 2024
Department of Child and Adolescent Psychiatry, New York University School of Medicine, New York, New York State, United States of America.
Understanding the sequence and timing of brain functional network development at the beginning of human life is critically important from both normative and clinical perspectives. Yet, we presently lack rigorous examination of the longitudinal emergence of human brain functional networks over the birth transition. Leveraging a large, longitudinal perinatal functional magnetic resonance imaging (fMRI) data set, this study models developmental trajectories of brain functional networks spanning 25 to 55 weeks of post-conceptual gestational age (GA).
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