BACKGROUND Major findings of myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy (MIRAGE) syndrome is a rare genetic condition caused by a gain-of-function mutation in the SAMD9 gene. It acts as a growth repressor expressed in the endothelial cells. Pathogenic variants in the SAMD9 gene lead to profound growth-restricting activity intrinsic to the protein, which further reduces cellular proliferation and instigates this growth-limiting condition.
View Article and Find Full Text PDFNeonatal Dieulafoy's lesion is a rare but serious condition that can be life-threatening if not diagnosed and intervened in a timely manner. It presents with episodes of sudden acute gastrointestinal haemorrhage in the form of blood in vomit and/or blood in stool. In general, most of the lesions are successfully treated with endoscopic or angiographic intervention.
View Article and Find Full Text PDFSepsis results in intense disturbances in homoeostasis and is responsible for considerable morbidity and mortality in early infancy. Owing to insufficiency on part of infant to develop adequate inflammatory response to localize the infection, they usually progress to disseminated systemic infection, pneumonia and/or meningitis. We present the case of a 26 weeks preterm boy with acute digital ischemia in right index finger progressing to impending gangrene as a manifestation of septicemia.
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