case_images: PMC11758467_01
case_images: Examination images confirm severe aortic coarctation on the first day of life and congenital mydriasis at 8 months. (A) Cardiac computed tomography angiography revealing aortic coarctation, with the narrowest point measuring 2.3 mm (arrow). (B) Ophthalmologic examination revealing bilaterally fixed pupils dilated to 5 mm, with an absence of both direct and consensual pupillary light reflexes.
case_images: fphar-15-1510969-g001.jpg
case_images: PMC11758467_02_fphar-15-1510969-g001.jpg
case_images: F1
case_images: Furthermore, ophthalmologic examination revealed bilaterally fixed pupils dilated to 5 mm, with an absence of both direct and consensual pupillary light reflexes (Figure 1B).
case_images: PMC11758467_02
case_images: Examination images confirm severe aortic coarctation on the first day of life and congenital mydriasis at 8 months. (A) Cardiac computed tomography angiography revealing aortic coarctation, with the narrowest point measuring 2.3 mm (arrow). (B) Ophthalmologic examination revealing bilaterally fixed pupils dilated to 5 mm, with an absence of both direct and consensual pupillary light reflexes.
case_images: fphar-15-1510969-g001.jpg
case_images: PMC11758467_02_fphar-15-1510969-g001.jpg
case_images: F1
case_images: Furthermore, ophthalmologic examination revealed bilaterally fixed pupils dilated to 5 mm, with an absence of both direct and consensual pupillary light reflexes (Figure 1B).
case_images: Chest CT demonstrating interstitial infiltrates in both lower lungs, accompanied by interlobular septal and pleural thickening. (A) Coronal view. (B) Transverse view.
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case_images: PMC11758467_02_fphar-15-1510969-g002.jpg
case_images: F2
case_images: CT demonstrated interstitial infiltrates in both lower lungs, accompanied by interlobular septal and pleural thickening (Figures 2A, B). Chromosomal analysis was normal.
case_images: Timeline of medical history from birth to death in a 8-month-old boy with MSMDS. Abbreviation: PAH = Pulmonary hypertension; IVIG: Intravenous immunoglobulin; NO = Nitric oxide; PSV = Pressure support ventilation; CPAP = Continuous positive airway pressure.
case_images: fphar-15-1510969-g003.jpg
case_images: PMC11758467_02_fphar-15-1510969-g003.jpg
case_images: F3
case_images: Cardiopulmonary resuscitation and epinephrine (0.5 mug/kg/min) were administered, but the patient ultimately passed away (Figure 3).
case_images: The specific screening process of whole-exome sequencing in this 8-month-old patient with MSMDS.
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case_images: F4