Isolated cortisol deficiency: A rare cause of neonatal cholestasis
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چکیده
منابع مشابه
Neonatal isolated ACTH deficiency (IAD): a potentially life-threatening but treatable cause of neonatal cholestasis
Isolated ACTH deficiency (IAD) is a rare cause of neonatal cholestasis and hypoglycaemia. This diagnosis has a 20% mortality potential if unrecognised. We describe a case of an infant presenting with cholestatic jaundice and hypoglycaemia. The patient had laboratory findings suggestive of IAD, which was later confirmed with molecular genetic testing. One of the mutations this patient had is a n...
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OBJECTIVES Cholestasis has been reported during the course of congenital hypothalamic-pituitary deficiency, but crucial information is lacking regarding both its origin and prognosis. We aimed to characterize the course of cholestasis and factors contributing to it in patients with deficiency due to pituitary stalk interruption syndrome (PSIS). METHODS We conducted a retrospective single-cent...
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We report a case of a newborn with cholestasis that was diagnosed as nonsyndromic Alagille syndrome. The main feature of the disease is a paucity of biliary ducts. There are two known types of the disease: the syndromic type which is associated with other congenital defects and the nonsyndromic type without other anomalies detected at birth. We describe the case and discuss its clinical and rad...
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2. García Gallego F, Gamallo Amat C, Aguado MG. Registro Nacional de tumores (memoria 1996-1997). Rev Esp Cardiol. 1999;52:13-20. 3. Burke A, Jeudy J Jr, Virmani R. Cardiac tumors: An update. Heart. 2008;94;117-23. 4. Neragi-Miandoab S, Kim J, Vlahakes GJ. Malignant tumors of the heart: a review of tumor type, dianosis and therapy. Clin Oncol (R Coll Radiol). 2007;19:748-56. 5. Constatine G, Sh...
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Oliveira GN, et al. BMJ Case Rep 2017. doi:10.1136/bcr-2017-223306 Description A 22-year-old gravida 2, para 1 (G2P1) woman with immunoglobulin anti-D prophylaxis, insulin-treated gestational diabetes and first-trimester cytomegalovirus (CMV) infection vaginally delivered a 39-week boy weighing 3720 g (90th centile) and with Apgar scores of 8 and 10 at 1 and 5 min. Prenatal ultrasonographic ass...
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ژورنال
عنوان ژورنال: Saudi Journal of Gastroenterology
سال: 2012
ISSN: 1319-3767
DOI: 10.4103/1319-3767.101137