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Severe reflux esophagitis and multiple congenital defects: A case report

Medicine (Baltimore), 2020-08, Vol.99 (35), p.e21758-e21758 [Peer Reviewed Journal]

Copyright © 2020 the Author(s). Published by Wolters Kluwer Health, Inc. 2020 ;ISSN: 0025-7974 ;EISSN: 1536-5964 ;DOI: 10.1097/MD.0000000000021758 ;PMID: 32871896

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Title:
Severe reflux esophagitis and multiple congenital defects: A case report
Author: Ma, Jia-Yi ; Wang, Dan ; Li, Zhao-Shen ; Hu, Liang-Hao
Subjects: Abnormalities, Multiple ; Ampulla of Vater - abnormalities ; Blindness - congenital ; Clinical Case Report ; Esophagitis, Peptic - drug therapy ; Esophagitis, Peptic - etiology ; Female ; Gastroscopy ; Heart Septal Defects, Atrial - diagnostic imaging ; Heart Septal Defects, Atrial - surgery ; Heart Septal Defects, Ventricular - diagnostic imaging ; Heart Septal Defects, Ventricular - surgery ; Humans ; Proton Pump Inhibitors - therapeutic use ; Whole Exome Sequencing ; Young Adult
Is Part Of: Medicine (Baltimore), 2020-08, Vol.99 (35), p.e21758-e21758
Description: Gastroesophageal reflux disease is a common and troublesome condition. This paper reports a rare case of gastroesophageal reflux disease caused by ectopic biliary drainage accompanying the absence of a pyloric channel and duodenal bulb in a female patient with multiple underlying malformations. A 24-year-old female presented with acid regurgitation and abdominal pain for one month. She was born two weeks premature and with blindness of the right eye. Cardiac murmur was detected in the physical examination. Gastroendoscopy was performed, and a class D reflux esophagitis and ectopic papilla complicated with the absence of a pyloric channel and duodenal bulb were found. Doppler echocardiography further confirmed the defects of atrial and ventricular septa. Trio-based whole exome sequencing was performed on the proband and her family to find the potential association of multiple variations. However, no putative pathogenic mutations were found. The patient received proton pump inhibitors and prokinetic treatment and underwent surgical repair of septal defects. The symptoms were quickly relieved, and the patient was kept stable upon follow-up. The combination of an absent pylorus and ectopic papilla is a rare cause of reflux esophagitis. Unusual gastrointestinal anatomical variations may be accompanied by other malformations. Though no remarkable mutation were detected in this case, sequencing is an efficient technique worth full consideration.
Publisher: United States: Lippincott Williams & Wilkins
Language: English
Identifier: ISSN: 0025-7974
EISSN: 1536-5964
DOI: 10.1097/MD.0000000000021758
PMID: 32871896
Source: IngentaConnect Open Access
Journals@Ovid Open Access Journal Collection Rolling
Wolters Kluwer Open Health
MEDLINE
PubMed Central
DOAJ Directory of Open Access Journals

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Severe reflux esophagitis and multiple congenital defects: A case report

Copyright © 2020 the Author(s). Published by Wolters Kluwer Health, Inc. 2020 ;ISSN: 0025-7974 ;EISSN: 1536-5964 ;DOI: 10.1097/MD.0000000000021758 ;PMID: 32871896

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