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Thick skin and thicker arteries: case report on a rare cause of hypertension.
Pediatr Nephrol
January 2025
Department of Paediatric Nephrology, Christian Medical College, Vellore, India.
Renovascular hypertension is the second leading cause of hypertension. Twenty-seven genes have been attributed to monogenic renovascular hypertension at present. We present a 15-year-old boy with facial dysmorphism, thick skin and renovascular hypertension with a novel gain-of-function variant in SMAD4 gene suggesting Myhre syndrome.
View Article and Find Full Text PDFAortoiliac arterial thrombosis and renal artery stenosis in a patient with neonatal multisystem inflammatory syndrome: a case report and review of literature.
Front Pediatr
January 2025
Division of Neonatology, Department of Pediatrics, Faculty of Medicine Vajira Hospital, Navamindradhiraj University, Bangkok, Thailand.
Background: Multisystem inflammatory syndrome in neonates (MIS-N) is a rare condition thought to be associated with prenatal exposure to maternal severe acute respiratory syndrome coronavirus 2 infection. This immune-mediated hyperinflammation has been described in neonates with multiorgan dysfunction, including cardiopulmonary, encephalopathy, coagulopathy, and vascular complications. However, renovascular complications in MIS-N are rare.
View Article and Find Full Text PDFCase report: Multisystemic smooth muscle dysfunction syndrome: a rare genetic cause of infantile interstitial lung disease.
Front Pharmacol
January 2025
Respiratory Department II, National Clinical Research Center for Respiratory Diseases, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an autosomal dominant disorder caused by mutations in the gene, resulting in variable clinical manifestation and multi-organ dysfunction. Interstitial lung disease (ILD) is a rare phenotype of this condition. We describe a rare infant case of an 8-month-old boy who presented with progressively worsening dyspnea, along with intermittent episodes of respiratory distress and cyanosis since birth.
View Article and Find Full Text PDFKnowledge of the natural history of deficiency disorder (CDD) is limited to the results of cross-sectional analysis of largely pediatric cohorts. Assessment of outcomes in adulthood is critical for clinical decision-making and future precision medicine approaches but is challenging because of the diagnostic gap and duration of follow-up that would be required for prospective studies. We aimed to delineate the natural history retrospectively from adulthood.
View Article and Find Full Text PDFPresentation and outcome of Alagille syndrome in paediatric patients at State Academic Hospital in South Africa.
Sudan J Paediatr
January 2024
Department of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Alagille syndrome (ALGS) is a multisystem autosomal dominant disorder in which patients may have characteristic facial features and involvement of the liver, heart, vessels, bones, eyes, kidneys and central nervous system. As there is little published data on ALGS in Africa, our aim was to describe the presentation and outcomes of ALGS in South Africa. The study constitutes a retrospective analysis of 25 patient medical records diagnosed as ALGS at Chris Hani Baragwanath Academic Hospital Pediatric Gastroenterology clinic between January 1992 and January 2020.
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