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Carmi Syndrome in a Neonate: An Exacting Surgical Challenge

Carmi syndrome is characterized by the concomitant presence of pyloric atresia and epidermolysis bullosa. Pyloric atresia routinely presents with symptoms of gastrointestinal obstruction, which include vomiting and feeding intolerance. On the other hand, epidermolysis bullosa presents with blisterin...

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Detalles Bibliográficos
Autores principales: Al Faqeeh, Ahmad A, Syed, Muhammad Khalid, Hussain, Salman, Almas, Talal, Ammar, Mohammed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7574818/
https://www.ncbi.nlm.nih.gov/pubmed/33094063
http://dx.doi.org/10.7759/cureus.10522
Descripción
Sumario:Carmi syndrome is characterized by the concomitant presence of pyloric atresia and epidermolysis bullosa. Pyloric atresia routinely presents with symptoms of gastrointestinal obstruction, which include vomiting and feeding intolerance. On the other hand, epidermolysis bullosa presents with blistering skin lesions upon the slightest trauma. Due to these skin lesions, the affected patients are particularly susceptible to developing septicemia and adverse disease outcomes. We hereby delineate a case of Carmi syndrome in a neonate who was treated surgically. Postoperatively, the neonate began to deteriorate and eventually developed septicemia and passed away shortly thereafter.