This case emphasizes the complexity of Prader-Willi syndrome (PWS), the need for a collaborative approach from specialists, and a closer look at the various cardiovascular complexities associated with this syndrome. While current treatments focus on managing symptoms, ongoing genetic research offers hope for more favorable outcomes. Further studies are crucial to gauge the effectiveness of these treatments for PWS patients. We detail a patient with a complex medical history of PWS, further complicated by congenital heart disease with Eisenmenger's syndrome, diabetes mellitus, pulmonary hypertension, venous insufficiency, hypothyroidism, and hyperlipidemia. Reported in this study is a compilation of clinical data as well as suggestions from several medical specialists in applying a multifaceted approach to treatment, significantly emphasizing the need for interdisciplinary care and management of patients experiencing a combination of various medical issues with an emphasis on cardiovascular complications.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11031429 | PMC |
| http://dx.doi.org/10.7759/cureus.56591 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Current practices in MRI screening in early onset scoliosis.
Spine Deform
January 2025
Case Western Reserve University School of Medicine, University Hospitals Cleveland Medical Center, Cleveland, OH, USA.
Purpose: Early onset scoliosis (EOS) has traditionally been an indication for MRI because of its association with neural axis abnormalities (NAAs). Because these abnormalities are often clinically silent and concerns regarding sedation in young children are growing, routine MRI for EOS is debated. This study investigates the current practices of EOS MRI screening among surgeons in the Pediatric Spine Study Group (PSSG).
View Article and Find Full Text PDFSex dimorphic associations of Prader-Willi imprinted gene expressions in umbilical cord with prenatal and postnatal growth in healthy infants.
World J Pediatr
January 2025
Pediatric Endocrinology, Girona Biomedical Research Institute, Hospital Dr. JosepTrueta, 17007, Girona, Spain.
Background: The impact of Prader-Willi syndrome (PWS) domain gene expression on the growth of healthy children is not well understood. This study investigated associations between PWS domain gene expression in umbilical cord tissue and prenatal and postnatal growth, considering potential sex differences.
Methods: Relative gene expression of paternally expressed MAGEL2, NDN, and SNURF-SNRPN, and the small nucleolar RNAs SNORD116 and SNORD115 were determined by real-time quantitative polymerase chain reaction in umbilical cord tissue from 122 healthy newborns (59 girls and 63 boys).
Mapping alterations in the local synchrony of the cerebral cortex in Prader Willi syndrome.
J Psychiatr Res
January 2025
Endocrinology and Nutrition Department, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Medicine Department, Universitat Autònoma de Barcelona, 08208, Sabadell, Spain.
Individuals with Prader Willi syndrome (PWS) often exhibit behavioral difficulties characterized by deficient impulse regulation and obsessive-compulsive features resembling those observed in obsessive-compulsive disorder. The genetic configuration of PWS aligns with molecular and neurophysiological findings suggesting dysfunction in the inhibitory gamma-aminobutyric acid (GABA) interneuron system may contribute to its clinical manifestation. In the cerebral cortex, this dysfunction is expressed as desynchronization of local neural activity.
View Article and Find Full Text PDFEnvironmental enrichment normalizes metabolic function in the murine model of Prader-Willi syndrome Magel2-null mice.
Endocrinology
January 2025
Department of Cancer Biology & Genetics, College of Medicine, The Ohio State University, Columbus, OH 43210, USA.
Prader-Willi syndrome (PWS) is a rare genetic disease that causes developmental delays, intellectual impairment, constant hunger, obesity, endocrine dysfunction, and various behavioral and neuropsychiatric abnormalities. Standard care of PWS is limited to strict supervision of food intake and growth hormone therapy, highlighting the unmet need for new therapeutic strategies. Environmental enrichment (EE), a housing environment providing physical, social, and cognitive stimulations, exerts broad benefits on mental and physical health.
View Article and Find Full Text PDFInpatient Hospitalizations for COVID-19 Among Patients With Prader-Willi Syndrome: A National Inpatient Sample Analysis.
Am J Med Genet A
January 2025
Massachusetts General Hospital, Boston, Massachusetts, USA.
Prader-Willi syndrome (PWS) is a genetic disorder associated with baseline respiratory impairment caused by multiple contributing etiologies. While this may be expected to increase the risk of severe COVID-19 infections in PWS patients, survey studies have suggested paradoxically low disease severity. To better characterize the course of COVID-19 infection in patients with PWS, this study analyses the outcomes of hospitalizations for COVID-19 among patients with and without PWS.
View Article and Find Full Text PDFWant 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!