Background: Arterial tortuosity syndrome is one of the autosomal recessive diseases and caused by alterations (mutations) in the SLC2A10 gene. It is a rare disorder worldwide and in Saudi Arabia. Its prevalence is unknown. In the medical literature, about 100 cases have been reported. Objectives: An approach for how to diagnose a case of arterial tortuosity in newborn. Material and methods: A radiological view report of a case aged 21 days old female baby patient presented to emergency department with vomiting and fever for one week. Results: She was managed in Abha Maternity and Child Hospital and referred to the tertiary center for advanced management and follow up. Conclusion: Arterial tortuosity syndrome usually presents with a different set of clinical features among reported cases and its manifestations going with the mutation type.
Objectives: To evaluate the demographics, clinical presentation, laboratory data, chest radiographs, and outcomes of pediatric patients with critical coronavirus disease 2019 .Methods: This retrospective study included 34 children who were diagnosed with severe COVID-19 pneumonia between August 2020 and July 2021. Severe pneumonia was defined as fever, respiratory distress (tachypnea, chest retractions, and hypoxia [oxygen saturation <90% in room air]), and obvious infiltrations on chest radiography.Results: Ages of the patients ranged from newborns to 12 years old, with a median of 24 months (interquartile range: 12-72 months). Preschool-aged children were the most common age group (44%). Levels of inflammatory markers (C-reactive protein, ferritin, and procalcitonin) were elevated in most patients. A total of 13 patients developed severe acute respiratory distress syndrome (ARDS), while 4 developed multiorgan failure. Despite receiving supportive therapy, 2 (5.9%) patients died due to severe septic shock and multiorgan failure. One deceased patient was born prematurely at 30 weeks, while the other had chronic granulomatous disease. Conclusion:This study described a single-center cohort of pediatric patients with severe COVID-19 pneumonia. In this cohort, children with cardiopulmonary comorbidities and ARDS had a high mortality and long-term morbidity, as observed in other pediatric studies.
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