A full-term female baby presented at 24 hours of life at the emergency department with occipital encephalocele, bilateral cleft lip, and cleft palate. She was born to a second gravida mother with no consanguinity between the parents. On examination, encephalocele was 10centimeters x 7centimeters in size with bilateral cleft lip and palate. It presents the opportunity for healthcare professionals to learn about a group of congenital neurological disorders in the content of a rare case presentation and highlights the importance of ultrasonography in the antenatal period for the detection of neural tube defects in the early stage for proper counselling and management. A compulsory prenatal diagnosis of the suspected family should be done by the intervention of the public sector of any country so that we can prevent and avoid abnormal birth.
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http://dx.doi.org/10.31729/jnma.6542 | DOI Listing |
J Neurosurg Pediatr
January 2025
1Division of Neurosurgery, Department of Surgery, Children's Hospital of Philadelphia.
Objective: The natural history of cephaloceles is not well understood. The goal of this study was to better understand the natural history of fetal cephaloceles from prenatal diagnosis to the postnatal period.
Methods: Between January 2013 and April 2023, all patients evaluated with a cephalocele at the Center for Fetal Diagnosis and Treatment were identified.
PLoS One
January 2025
Department of Convergence of Healthcare and Medicine, Ajou University Graduate School of Medicine, Suwon, South Korea.
Brain herniation can be a life-threatening condition, resulting in poor prognosis and higher fatality rates. We examined whether quantitative characteristics of sequential pupillary light reflex (PLR) could serve as biomarkers for identifying brain herniation in fatal acute stroke cases with anterior circulation involvement admitted to neurological intensive care unit (Neuro-ICU). Automatic pupillometer assessed PLR automatically every 4-6 hours, measuring eight specific features: NPi (Neurological pupil index) score, initial resting and constriction pupil size, constriction change, constriction velocity, constriction latency, and dilation velocity.
View Article and Find Full Text PDFCleft Palate Craniofac J
January 2025
Division of Orthodontics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Brazil.
This case report presents the multidisciplinary treatment of a male patient with a complex form of frontonasal dysplasia who presented with a 0 to 14 facial cleft, mild hypertelorism, absence of the nasal medial process of the nose, and frontonasal encephalocele. Cranial and plastic surgeries were performed to correct hypertelorism and improve the esthetic appearance of the frontonasal region. In the permanent dentition, the patient presented a Class II, division 1 malocclusion with severe maxillary constriction and bilateral posterior crossbite.
View Article and Find Full Text PDFInt J Biol Sci
January 2025
Department of Basic & Translational Sciences, School of Dental Medicine, University of Pennsylvania, USA.
Inositol polyphosphate-5-phosphatase E (INPP5E) is a 5-phosphatase critically involved in diverse physiological processes, including embryonic development, neurological function, immune regulation, hemopoietic cell dynamics, and macrophage proliferation, differentiation, and phagocytosis. Mutations in cause Joubert and Meckel-Gruber syndromes in humans; these are characterized by brain malformations, microphthalmia, situs inversus, skeletal abnormalities, and polydactyly. Recent studies have demonstrated the key role of INPP5E in governing intracellular processes like endocytosis, exocytosis, vesicular trafficking, and membrane dynamics.
View Article and Find Full Text PDFPrenat Diagn
January 2025
Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.
Objective: To report a case of a fetus with multiple congenital anomalies and suspected Barth syndrome, highlighting potential phenotypic expansion of the syndrome.
Methods: A 32-year-old G4P2011 patient was referred at 18w5d gestation for suspected fetal encephalocele. Serial imaging, including ultrasound and MRI, was performed to evaluate fetal anomalies.
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