Galactosemia Presenting as Recurrent Sepsis
نویسندگان
چکیده
منابع مشابه
Case Report Galactosemia Presenting as Recurrent Sepsis
Galactosemia is a treatable metabolic disorder caused by the deficiency of enzyme galactose-1phosphate uridyl transferase (GALT) and inherited as an autosomal recessive trait. A case of neonate manifesting with recurrent Escherichia coli sepsis is presented here which turned out to be a classic galactosemia. No other common presenting features were observed in this infant except cataract on sli...
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Objective: To report a case of classic galactosemia that presented with a rare ocular finding, Peters’ anomaly. Clinical Presentation and Intervention: A neonate, born to firstdegree healthy cousins, presented with persistent vomiting, failure to thrive, lethargy, and jaundice. Corneal opacity was noticed in the left eye. Hydration and empiric antibiotics were started after collection of the re...
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*Associate Professor, Dept. of Medicine, Medical College, 88 College Street, Kolkata 700073; **Associate Professor, Midnapore Medical College, Midnapore; ***RMO-cum-Clinical Tutor, ****Post-graduate Trainee, Dept. of Medicine, Medical College, 88 College Street, Kolkata 700073 Received: 22.02.2012; Revised; 08.02.2014; Accepted: 07.03.2014 Sir, A 22 year married Muslim female presented with rec...
متن کاملClassic Galactosemia Presenting with Unilateral Peters Anomaly
Objective: To report a case of classic galactosemia that presented with a rare ocular finding, Peters’ anomaly. Clinical Presentation and Intervention: A neonate, born to firstdegree healthy cousins, presented with persistent vomiting, failure to thrive, lethargy, and jaundice. Corneal opacity was noticed in the left eye. Hydration and empiric antibiotics were started after collection of the re...
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ژورنال
عنوان ژورنال: Journal of Tropical Pediatrics
سال: 2011
ISSN: 0142-6338,1465-3664
DOI: 10.1093/tropej/fmr018