Trisomy 18 and necrotizing enterocolitis

Introduction: Both Trisomy 18 (T18) and Necrotizing enterocolitis totalis (NEC-T) are major causes of morbidity and mortality in neonates. However, to our knowledge there has never been a case of a full-term infant born with both T18 and NEC-T published in the literature. Case report: We present a c...

Full description

Bibliographic Details
Main Authors: Alexandra Maidan, Marla A. Sacks, Steven L. Raymond, Georgi D. Mladenov, Faraz A. Khan, Andrei Radulescu
Format: Article
Language:English
Published: Elsevier 2022-10-01
Series:Journal of Pediatric Surgery Case Reports
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S221357662200238X
_version_ 1811274243061579776
author Alexandra Maidan
Marla A. Sacks
Steven L. Raymond
Georgi D. Mladenov
Faraz A. Khan
Andrei Radulescu
author_facet Alexandra Maidan
Marla A. Sacks
Steven L. Raymond
Georgi D. Mladenov
Faraz A. Khan
Andrei Radulescu
author_sort Alexandra Maidan
collection DOAJ
description Introduction: Both Trisomy 18 (T18) and Necrotizing enterocolitis totalis (NEC-T) are major causes of morbidity and mortality in neonates. However, to our knowledge there has never been a case of a full-term infant born with both T18 and NEC-T published in the literature. Case report: We present a case of NEC totalis in male neonate born at 39 weeks gestation with Trisomy 18. He was diagnosed with T18 in-utero, and after genetic counseling, the mother carried the pregnancy to term. After delivery, the newborn developed signs of respiratory distress, requiring use of continuous positive airway pressure support. On day of life (DOL) 8, multiple bloody bowel movements raised suspicion for NEC and after supplemental investigations prompted a series of exploratory laparotomies that revealed extensive necrotizing enterocolitis involving the entire gastrointestinal tract. On DOL 12, the family opted for palliative care and the patient subsequently expired. Conclusion: To our knowledge, after searching through the English literature, no cases were found showing a neonate with a combination of T18 and NEC-T.
first_indexed 2024-04-12T23:15:31Z
format Article
id doaj.art-e2cdaaae8eab4c27aa5692c8b92ff4fe
institution Directory Open Access Journal
issn 2213-5766
language English
last_indexed 2024-04-12T23:15:31Z
publishDate 2022-10-01
publisher Elsevier
record_format Article
series Journal of Pediatric Surgery Case Reports
spelling doaj.art-e2cdaaae8eab4c27aa5692c8b92ff4fe2022-12-22T03:12:43ZengElsevierJournal of Pediatric Surgery Case Reports2213-57662022-10-0185102411Trisomy 18 and necrotizing enterocolitisAlexandra Maidan0Marla A. Sacks1Steven L. Raymond2Georgi D. Mladenov3Faraz A. Khan4Andrei Radulescu5Loma Linda University School of Medicine, Loma Linda, CA, USADivision of Pediatric Surgery, Loma Linda University Children's Hospital, Loma Linda, CA, USADivision of Pediatric Surgery, Loma Linda University Children's Hospital, Loma Linda, CA, USADivision of Pediatric Surgery, Loma Linda University Children's Hospital, Loma Linda, CA, USALoma Linda University School of Medicine, Loma Linda, CA, USA; Division of Pediatric Surgery, Loma Linda University Children's Hospital, Loma Linda, CA, USALoma Linda University School of Medicine, Loma Linda, CA, USA; Division of Pediatric Surgery, Loma Linda University Children's Hospital, Loma Linda, CA, USA; Corresponding author. Loma Linda University Medical Center, 11175 Campus Street, CP21111, Loma Linda, CA, 92350, USA.Introduction: Both Trisomy 18 (T18) and Necrotizing enterocolitis totalis (NEC-T) are major causes of morbidity and mortality in neonates. However, to our knowledge there has never been a case of a full-term infant born with both T18 and NEC-T published in the literature. Case report: We present a case of NEC totalis in male neonate born at 39 weeks gestation with Trisomy 18. He was diagnosed with T18 in-utero, and after genetic counseling, the mother carried the pregnancy to term. After delivery, the newborn developed signs of respiratory distress, requiring use of continuous positive airway pressure support. On day of life (DOL) 8, multiple bloody bowel movements raised suspicion for NEC and after supplemental investigations prompted a series of exploratory laparotomies that revealed extensive necrotizing enterocolitis involving the entire gastrointestinal tract. On DOL 12, the family opted for palliative care and the patient subsequently expired. Conclusion: To our knowledge, after searching through the English literature, no cases were found showing a neonate with a combination of T18 and NEC-T.http://www.sciencedirect.com/science/article/pii/S221357662200238XNecrotizing enterocolitisNecrotizing enterocolitis totalisTrisomy 18
spellingShingle Alexandra Maidan
Marla A. Sacks
Steven L. Raymond
Georgi D. Mladenov
Faraz A. Khan
Andrei Radulescu
Trisomy 18 and necrotizing enterocolitis
Journal of Pediatric Surgery Case Reports
Necrotizing enterocolitis
Necrotizing enterocolitis totalis
Trisomy 18
title Trisomy 18 and necrotizing enterocolitis
title_full Trisomy 18 and necrotizing enterocolitis
title_fullStr Trisomy 18 and necrotizing enterocolitis
title_full_unstemmed Trisomy 18 and necrotizing enterocolitis
title_short Trisomy 18 and necrotizing enterocolitis
title_sort trisomy 18 and necrotizing enterocolitis
topic Necrotizing enterocolitis
Necrotizing enterocolitis totalis
Trisomy 18
url http://www.sciencedirect.com/science/article/pii/S221357662200238X
work_keys_str_mv AT alexandramaidan trisomy18andnecrotizingenterocolitis
AT marlaasacks trisomy18andnecrotizingenterocolitis
AT stevenlraymond trisomy18andnecrotizingenterocolitis
AT georgidmladenov trisomy18andnecrotizingenterocolitis
AT farazakhan trisomy18andnecrotizingenterocolitis
AT andreiradulescu trisomy18andnecrotizingenterocolitis