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Altered Connectome Topology in Newborns at Risk for Cognitive Developmental Delay: A Cross-Etiologic Study.
Hum Brain Mapp
January 2025
Center for MR Research, University Children's Hospital Zurich, Zurich, Switzerland.
The human brain connectome is characterized by the duality of highly modular structure and efficient integration, supporting information processing. Newborns with congenital heart disease (CHD), prematurity, or spina bifida aperta (SBA) constitute a population at risk for altered brain development and developmental delay (DD). We hypothesize that, independent of etiology, alterations of connectomic organization reflect neural circuitry impairments in cognitive DD.
View Article and Find Full Text PDFRetroperitoneal Teratoma in a Newborn: A Case Report and Diagnostic Insights.
Cureus
December 2024
Department of Pediatrics, Division of Neonatology, Blythedale Children's Hospital, Valhalla, USA.
Retroperitoneal teratomas are rare neoplasms in neonates, presenting with nonspecific symptoms and variable clinical features, making diagnosis challenging. Radiological investigations, particularly fetal ultrasound and contrast-enhanced computed tomography, play a critical role in their detection. Differential diagnoses include neuroblastoma, adrenal hemorrhage, and congenital cystic lesions, which share overlapping clinical and imaging features.
View Article and Find Full Text PDFA Case of a Newborn Presenting With a VACTERL-Like Association.
Cureus
December 2024
Family Medicine, Louisiana State University Health Sciences Center, Alexandria, USA.
The VACTERL (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities) association represents an enigmatic syndrome requiring further study. This report describes a full-term neonate born to a multiparous woman who was found, upon further examination, to have multiple congenital abnormalities, including a bicuspid aortic valve, patent foramen ovale, tracheoesophageal fistula (TEF), asymmetric crying facies, microphallus, and a single inguinal testis. The discussion explores environmental and genetic factors that may contribute to this association, as well as similar conditions, such as CHARGE (coloboma, heart defects, choanal atresia, growth retardation, genital abnormalities, and ear abnormalities) syndrome.
View Article and Find Full Text PDFSiblings With Berardinelli-Seip Congenital Lipodystrophy: Clinical Insights and Challenges.
Cureus
December 2024
Pharmacy, Punjab University College of Pharmacy, Lahore, PAK.
Berardinelli-Seip congenital lipodystrophy (BSCL), also known as congenital generalized lipodystrophy (CGL), is an exceptionally rare autosomal recessive disorder marked by a significant deficiency of adipose tissue throughout the body. This lack of adipose tissue, normally found beneath the skin and between internal organs, leads to impaired adipocyte formation and fat storage, causing lipids to accumulate in atypical tissues such as muscles and the liver. The extent of adipose tissue loss directly influences the severity of symptoms, which can include a muscular appearance, increased appetite, bone cysts, marrow fat depletion, acromegalic features, severe insulin resistance, skeletal muscle hypertrophy, hypertrophic cardiomyopathy, hepatic steatosis, hepatomegaly, cirrhosis, and intellectual disability.
View Article and Find Full Text PDFHydranencephaly in a Newborn: A Case Report and a Review of the Literature.
Cureus
December 2024
Neonatology, Souss Massa University Hospital Center, Agadir, MAR.
Hydranencephaly (HE) is a severe and isolated malformation affecting the cerebral mantle. In this condition, the cerebral hemispheres are entirely or almost entirely absent, replaced by a membranous sac filled with cerebrospinal fluid, while the midbrain is usually preserved. Although HE is a relatively rare brain disorder, the differential diagnosis must include conditions such as severe hydrocephalus, porencephalic cysts, and alobar holoprosencephaly.
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