AI Article Synopsis
- A school-aged boy presented with scoliosis, muscle weakness, hypotonia, and respiratory distress, leading to a genetic analysis that identified two variants in the MEGF10 gene, one of which was novel and potentially pathogenic.
- This case highlights the varied symptoms of early onset myopathy associated with the identified mutations, stressing the need for early genetic testing for better diagnosis and intervention.
- The report emphasizes that myopathy should be considered in children displaying severe scoliosis and respiratory issues, advocating for timely and comprehensive treatment options based on current understanding of the condition, EMARDD.
Article Abstract
We present a novel case of a school-aged boy with scoliosis and progressive muscle weakness, featuring new onset hypotonia and respiratory distress. Genetic analysis revealed two heterozygous variants in the MEGF10 gene: one known pathogenic variant and one novel missense variant. This case illustrates the heterogeneous phenotype of early onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD), according to the mutations associated, and underscores the importance of early genetic testing. Among the few cases described in the literature, few report symptom onset and diagnoses after the first years of life, unlike the case reported here. Additionally, this report alerts for the suspicion of myopathy in children with severe scoliosis and recurrent respiratory infections and revises the current knowledge of EMARDD, emphasizing the necessity for comprehensive and timely treatment approaches.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11627526 | PMC |
| http://dx.doi.org/10.7759/cureus.74966 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Impact of drug-resistant tuberculosis on socio-economic status, quality of life and psychological well-being of patients in Bucharest, Romania: a prospective cohort study.
J Health Popul Nutr
December 2024
Institute of Infectious Diseases and Tropical Medicine, LMU University Hospital, LMU Munich, Munich, Germany.
Background: Tuberculosis (TB) remains a global health challenge, with 1.3 million deaths in 2022. Ten countries in the European Union (EU) and European Economic Area (EEA) accounted for 88.
View Article and Find Full Text PDFEffects of two different dexamethasone dosing regimens on ventilator-free days and long-term mortality in COVID-19 patients with moderate-to-severe ARDS: the REMED randomized clinical trial.
Eur J Med Res
December 2024
Bloomsbury Institute of Intensive Care Medicine, Division of Medicine, University College London, London, UK.
Background: Dexamethasone 6 mg in patients with severe COVID-19 has been shown to decrease mortality and morbidity. The effects of higher doses of corticosteroid, that would further increase anti-inflammatory effects, are uncertain. The objective of our study was to assess the effect of 20 mg dexamethasone vs.
View Article and Find Full Text PDFExtracorporeal membrane oxygenation in trauma patient in France: a retrospective nationwide registry.
Anaesth Crit Care Pain Med
December 2024
Sorbonne University, GRC 29, Assistance Publique-Hôpitaux de Paris, DMU DREAM, Department of Anesthesiology and critical care, Pitié-Salpêtrière Hospital, Paris, France. Electronic address:
Background: Indications for Veno-venous (VV) or veno-arterial (VA) extracorporeal membrane oxygenation (ECMO) after trauma rely on poor evidence. The main aims were to describe the population of trauma patients requiring either VV or VA ECMO and report their clinical management and outcomes.
Methods: An observational multicentre retrospective study was conducted in 17 Level 1 trauma centres in France between January 2010 and December 2021.
Association between Driving Pressure, Systemic Inflammation and Non-pulmonary Organ Dysfunction in Patients with Acute Respiratory Distress Syndrome, a Prospective Pathophysiological Study.
Anaesth Crit Care Pain Med
December 2024
CIBER de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, Madrid, Spain; Institut d'Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), Barcelona, Spain; University of Barcelona (UB), Barcelona, Spain; Respiratory Intensive Care Unit, Pneumology, Respiratory Institute, Hospital Clinic of Barcelona, Barcelona, Spain. Electronic address:
Background: Driving pressure is thought to determine the effect of low tidal ventilation on survival in patients with acute respiratory distress syndrome. The leading cause of mortality in these patients is non-pulmonary multiorgan dysfunction, which is believed to worsen due to the biological response to mechanical ventilation (biotrauma). Therefore, we aimed to analyze the association between driving pressure, biotrauma, and non-pulmonary multiorgan dysfunction.
View Article and Find Full Text PDFDevelopment and validation of an explainable model of brain injury in premature infants: A prospective cohort study.
Comput Methods Programs Biomed
December 2024
Northwest Women's and Children's Hospital, No. 1616 Yanxiang Road, Xi'an, 710061, China. Electronic address:
Background: Preterm brain injury (PBI) is a prevalent complication in preterm infants, leading to the destruction of critical structural and functional brain connections and placing a significant burden on families. The timely detection of PBI is of paramount importance for the prevention and treatment of the condition. However, the absence of specific clinical manifestations in the early stages of PBI renders it susceptible to misdiagnosis and missed diagnoses.
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!