JPGN Volume 66, Number 3, March 2018 Case Reports p.Ser420Arg). These mutations have each been classified as likely therapeutic hypothermia (TH) for hypoxic ischemic encephalopa- pathogenic by the reporting laboratory, and clinical correlation in thy (HIE) have not found an increased incidence of GI problems in our patient further supports their pathogenicity. To date, there have neonates managed with hypothermia (1,2). We report 3 cases of been 3 homozygous recessive mutations described in 8 patients; this isolated intestinal perforations for 13 years (2002 – 2014), among is the first described compound heterozygote (2 – 4). Although most 586 (0.51%) neonates with HIE. All 3 neonates had significant cases of DGAT1 deficiency have been accompanied by hypertri- perinatal asphyxia associated with anaemia at birth requiring early glyceridemia, our patient did not have this condition, which may be blood transfusion, raising the possibility that the addition of anae- due to her unique mutation. She, however, did demonstrate hypoal- mic shock at birth may be a risk factor for the development of buminemia, elevated stool alpha-1-antitrypsin, and improvement serious gut injury in neonates with perinatal asphyxia. with a very low-fat diet, which, along with hypertriglyceridemia, Tables 1 and 2 provide detailed information
Journal of Pediatric Gastroenterology & Nutrition – Wolters Kluwer Health
Published: Mar 1, 2018
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