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.
Keywords: carmi syndrome; epidermolysis bullosa; pyloric atresia.
Copyright © 2020, Al Faqeeh et al.