MIRAGE Syndrome Enteropathy Responding to Pancrelipase Despite Normal Pancreatic Fecal Elastase: A Case Report.

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. Gastrointestinal features include chronic diarrhea, severe diaper rash, and colonic dilatation. Until now, there has been no description of exocrine pancreatic insufficiency as a possible cause of enteropathy in MIRAGE syndrome. CASE REPORT We report a case of MIRAGE syndrome affecting multiple systems in an infant who had severe enteropathy which responded well to porcine-derived pancreatic enzyme supplements despite normal pancreatic fecal elastase level. The infant is being followed up by multidisciplinary teams in our outpatient department. CONCLUSIONS Porcine-derived pancreatic enzyme is beneficial in enteropathy due to MIRAGE syndrome and is worth considering.

A rare anomaly: duodenal Dieulafoy's lesion in a preterm baby.

Neonatal 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. Surgery is usually reserved for cases that fail endoscopic or angiographic intervention. We present a neonatal case of duodenal Dieulafoy's lesion that occurred in a 29-week-old male baby with birth weight of 1.2 kg. He developed melena and haematemesis at 4 weeks of life. He required normal saline boluses and transfusion of blood products for acute blood loss. The lesion was successfully treated with endoscopic intervention.

Nitroglycerin patch use in digital ischemia secondary to sepsis: a case report.

Sepsis 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. Use of topical nitroglycerin patch with meticulous monitoring successfully alleviated the impending peripheral gangrene without any adverse effects.