Incidental Finding of MEGDEL Syndrome at a Tertiary Care Center in Saudi Arabia.

MEGDEL syndrome, a rare autosomal recessive disorder characterized by 3-methylglutaconic aciduria, deafness, encephalopathy, and Leigh-like syndrome, results from mutations in the SERAC1 gene. This case report explores the clinical presentation, diagnostic challenges, and genetic findings of an 11-year-old boy with MEGDEL syndrome at a tertiary care center in Saudi Arabia. The patient, born to consanguineous parents, presented with developmental delay, cerebral palsy, intellectual disability, and seizures.

Prevalence and risk factors of urinary tract infection among children with bronchiolitis.

Background: The co-occurrence of bronchiolitis and urinary tract infections (UTI) in hospitalized children is associated with high morbidity and economic strain. However, due to a low prevalence (<3%) and inconsistent diagnostic criteria, there is ongoing debate regarding the necessity of systematic screening. This study estimated the prevalence of UTI among children admitted for bronchiolitis and analyzed the associated demographic and clinical factors.

The Successful Management of Gangrenous Pneumococcal Infection in an Infant With Polysplenia Syndrome.

This study describes the successful management of gangrenous pneumococcal infection in an infant with polysplenia, a rare congenital malformation characterized by multiple aberrant nodules of splenic tissue. The patient, a three-month-old girl with congenital heart defects and incomplete vaccination, presented with fever, irritability, and oxygen desaturation, followed by erythematous skin changes. The diagnosis revealed sepsis caused by , accompanied by extensive gangrenous skin lesions and signs of disseminated intravascular coagulation.

Prevalence of Congenital Heart Defects in Individuals With Down Syndrome in Saudi Arabia: A Systematic Review and Meta-Analysis.

Patients with Down syndrome (DS) are commonly diagnosed with congenital heart disease (CHD), which is the leading cause of mortality in this group during the first two years of life. This systematic review and meta-analysis aims to review the current publications to assess the pooled prevalence of overall CHDs in individuals with DS in KSA. We conducted the search on the databases PubMed, EBSCO, Scopus, Web of Science through Clarivate, and Google Scholar using Boolean operators and various keywords.

Assessing health related quality of life of school aged Saudi children in western province using the validated Arabic version of child health questionaire-parent form-50.

To assess the health-related quality of life (HRQOL) of children from a community in Jeddah, Saudi Arabia, excluding those with known chronic illnesses. Methods: Four schools in Jeddah participated in this cross-sectional study, which was conducted from February 2018 to February 2019. The parents of 5-14 year-old children were surveyed using the validated Arabic version of the Child Health Questionnaire-Parent Form 50 (CHQ-PF50).

Urinary tract infection in children younger than 5 years. Etiology and associated urological anomalies.

Objectives: To investigate the most common underlying organisms, and associated urological anomalies in children presenting with urinary tract infection (UTI).

Methods: Retrospectively, all children with confirmed UTI between October 2013 and February 2014 were evaluated at King Abdulaziz University Hospital, Riyadh, Kingdom of Saudi Arabia. The electronic files of 279 children presenting with UTI, aged less than 5 years were reviewed.