Congenital central hypoventilation syndrome (CCHS) is a rare neurological disease affecting the brain's response to carbon dioxide levels, resulting in dysregulation of respiration. CCHS is characterized by a diminished effort to breathe during sleep despite hypoxia and hypercapnia. Ventilation is adequate during wakeful periods but diminished during sleep. Alterations in ventilation pose a challenge to anesthesiologists in their attempts to wean these patients from ventilatory support. We describe a patient with CCHS and a complicated history of prolonged tracheal intubation, who was treated with intravenous (IV) caffeine and was able to resume adequate spontaneous ventilation and baseline mental status immediately post-procedure.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9356911 | PMC |
| http://dx.doi.org/10.7759/cureus.26646 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Clinical Features and Risks of Congenital Melanocytic Naevi: A Retrospective Analysis of Patients at the Queensland Children's Hospital.
Australas J Dermatol
January 2025
QCIF Bioinformatics, Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
Background/objectives: Congenital melanocytic naevi (CMN) are a risk factor for melanoma. Melanoma risk is dependent on the congenital phenotype. Our primary aims were to assess the clinical characteristics of CMN that indicate a high risk of neurocutaneous melanosis (NCM) and melanoma in an Australian paediatric population group; to identify patient characteristics and clinical features of CMN that trigger further investigations; and to determine the rate of malignancy and other complications for CMN.
View Article and Find Full Text PDFLate Presentation of Congenital Aqueduct Stenosis in Adulthood with High-Riding Basilar Artery: Case Report.
J Neurol Surg Rep
January 2025
Department of Neurosurgery and Spine Surgery, Qatif Central Hospital, Qatif, Saudi Arabia.
A rare variant of congenital aqueductal stenosis (CAS) is known as adult-onset CAS, characterized by the emergence of symptoms during adulthood. A 35-year-old man presented complaining of acute-onset headache and vomiting. Magnetic resonance imaging of the brain revealed an acute hydrocephalus due to an aqueductal web.
View Article and Find Full Text PDFIdentification of novel RIPK4 variants in a Chinese patient with Arthrogryposis Multiplex Congenita (AMC).
Ital J Pediatr
January 2025
Department of Orthopaedics, Xiangya Hospital of Central South University, Changsha, China.
Background: Arthrogryposis multiplex congenita (AMC) is a congenital disorder characterized by multiple joint involvement, primarily affecting limb mobility and leading to various tissue contractures. Variations in the RIPK4 gene may impact connective tissues, thereby resulting in a spectrum of malformations. This study aimed to identify the genetic etiologies of AMC patients and provide genetic testing information for further diagnosis and treatment of AMC.
View Article and Find Full Text PDFApplication of Whole-Exome Sequencing in the Genetic Diagnosis of Prenatal Ultrasound Abnormalities.
Br J Hosp Med (Lond)
December 2024
Department of Obstetrics and Gynecology, Rizhao People's Hospital, Rizhao, Shandong, China.
Prenatal diagnosis is a crucial tool in reducing birth defects. Research indicates that whole-exome sequencing (WES) is particularly effective for detecting abnormalities associated with structural ultrasound findings. This study aimed to evaluate the utility of WES in the genetic diagnosis of prenatal ultrasound abnormalities.
View Article and Find Full Text PDFThe ACTION VAD Registry: A Collective Five-Year Experience.
J Heart Lung Transplant
January 2025
Department of Pediatrics, Medical College of Wisconsin and Herma Heart Institute, Children's Wisconsin; Milwaukee, WI.
Background: The Advanced Cardiac Therapies Improving Outcomes Network (ACTION) began in 2018 as a collaborative learning health system committed to improving outcomes in pediatric heart failure, including children and adults with congenital heart disease, supported with ventricular assist devices (VADs). This report describes patient and device characteristics, and outcomes through 1-year post-implant.
Methods: The ACTION VAD registry report was created from data submitted to the ACTION learning network from April 2018-June 2023.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!