Please use this identifier to cite or link to this item:
http://doi.org/10.25358/openscience-6449
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 |
ROR: | https://ror.org/023b0x485 |
DOI: | http://doi.org/10.25358/openscience-6449 |
Version: | Published version |
Publication type: | Zeitschriftenaufsatz |
Document type specification: | Scientific article |
License: | CC BY-NC-ND |
Information on rights of use: | https://creativecommons.org/licenses/by-nc-nd/4.0/ |
Journal: | International journal of surgery case reports 84 |
Pages or article number: | 106070 |
Publisher: | Elsevier |
Publisher place: | Amsterdam u.a. |
Issue date: | 2021 |
ISSN: | 2210-2612 |
Publisher URL: | https://doi.org/10.1016/j.ijscr.2021.106070 |
Publisher DOI: | 10.1016/j.ijscr.2021.106070 |
Appears in collections: | JGU-Publikationen |
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