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Authors: Schreiner, Daniel
Uebler, Andrea
Ginghina, Carmen
Muensterer, Oliver
Has, Cristina
Mildenberger, Eva
Title: Prognostic assessment and management of a patient with Carmi syndrome : a case report
Online publication date: 9-Nov-2021
Year of first publication: 2021
Language: english
Abstract: Carmi syndrome is a rare and severe disease defined by pyloric atresia and junctional epidermolysis bullosa. There are no clear recommendations when to consider a curative therapy, including surgical repair of pyloric atresia and when to transition to palliative care. We report the case of a female preterm infant suffering from Carmi syndrome. After definitive diagnosis and appropriate ethical counselling, we decided for surgical repair of the pyloric atresia. Nonetheless, there was no clinical improvement and our patient died after 35 days. Reviewing the literature, we found immunofluorescence microscopy to be most decisive examination to determine the prognosis of this severe disease.
DDC: 610 Medizin
610 Medical sciences
Institution: Johannes Gutenberg-Universität Mainz
Department: FB 04 Medizin
Place: Mainz
Version: Published version
Publication type: Zeitschriftenaufsatz
Document type specification: Scientific article
License: CC BY-NC-ND
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Journal: International journal of surgery case reports
Pages or article number: 106070
Publisher: Elsevier
Publisher place: Amsterdam u.a.
Issue date: 2021
ISSN: 2210-2612
Publisher URL:
Publisher DOI: 10.1016/j.ijscr.2021.106070
Appears in collections:JGU-Publikationen

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