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European central hypoventilation syndrome consortium description of congenital central hypoventilation syndrome neonatal onset.
Eur J Pediatr
January 2025
Service de Physiologie Pédiatrique-Centre du Sommeil-CRMR Hypoventilations Alvéolaires Rares, INSERM NeuroDiderot, Université Paris-Cité, AP-HP, Hôpital Robert Debré, Paris, France.
Unlabelled: It is known that in most cases of congenital central hypoventilation syndrome (CCHS), apnoeas and hypoventilation occur at birth. Nevertheless, a detailed description of initial symptoms, including pregnancy events and diagnostic tests performed, is warranted in infants with neonatal onset of CCHS, that is, in the first month of life. The European Central Hypoventilation Syndrome Consortium created an online patient registry from which 97 infants (44 females) with CCHS of neonatal onset and PHOX2B mutation from 10 countries were selected.
View Article and Find Full Text PDFCanadian Association of Radiologists Central Nervous System Diagnostic Imaging Referral Guideline.
Can Assoc Radiol J
January 2025
North York General Hospital, Toronto, ON, Canada.
The Canadian Association of Radiologists (CAR) Central Nervous System Expert Panel is made up of physicians from the disciplines of radiology, emergency medicine, neurosurgery, and neurology, a patient advisor, and an epidemiologist/guideline methodologist. After developing a list of 24 clinical/diagnostic scenarios, a rapid scoping review was undertaken to identify systematically produced referral guidelines that provide recommendations for one or more of these clinical/diagnostic scenarios. Recommendations from 55 guidelines and contextualization criteria in the Grading of Recommendations, Assessment, Development, and Evaluations (GRADE) for guidelines framework were used to develop 51 recommendation statements across the 24 scenarios.
View Article and Find Full Text PDFA Case of Latent Syphilis in Early Pregnancy: An Incidental Finding at Seven Weeks Gestation.
Cureus
December 2024
Internal Medicine, Thumbay University Hospital, Ajman, ARE.
, the bacteria that causes syphilis, is typically acquired through sexual contact but can also be transmitted transplacentally (through the placenta), causing congenital infection. Syphilis in pregnancy is a major contributing factor to perinatal morbidity and mortality. Untreated neonates may develop complications affecting the central nervous system, bones, joints, teeth, eyes, and skin.
View Article and Find Full Text PDFSimpson-Golabi-Behmel syndrome type 1 in a neonate with central hepatoblastoma.
BMJ Case Rep
January 2025
Division of Neonatology, Kasturba Medical College Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
We report a neonate evaluated for hepatomegaly during hospitalisation and was diagnosed to have hepatoblastoma, an uncommon childhood malignancy. The presence of dysmorphism, macrosomia and congenital heart defect led to the suspicion of congenital overgrowth conditions. The genetic evaluation revealed a pathogenic variant, conclusive of Simpson-Golabi-Behmel syndrome type 1 (SGBS1).
View Article and Find Full Text PDFCongenital Sublingual Dermoid Cyst Mimicking a Recurrent Ranula in a Pediatric Patient: A Case Report.
Cureus
December 2024
Department of Otolaryngology - Head and Neck Surgery, College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Jeddah, SAU.
In pediatrics, sublingual lesions are not a common disease. Due to the similarity in their clinical and radiological features, they present a diagnostic challenge. Despite the advancement in imaging techniques, the accurate preoperative diagnosis of sublingual lesions may fail.
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