Gastroenterological management in a case of cardio-facio-cutaneous syndrome

Abstract Background: cardio-facio-cutaneous is a rare genetic syndrome affecting less 900 people in the world. It is mainly characterized by craniofacial, dermatologic and cardiac defects, but also gastroenterological symptoms can be present, ranging from feeding difficulties to gastroesophageal reflux and constipation. In this report we describe a case of this syndrome characterized by severe feeding and growth difficulties, with a particular focus on the management of gastroenterological complications. This report wants to illustrate one of the many features of a syndrome that rarely comes to the attention of the clinician and that is not easy to diagnose.Case presentation: the patient was a caucasian male with Cardio-Facio-Cutaneous syndrome who, already a few hours after birth, presented feeding difficulties that worsened in the following months and lead to a complete growth arrest and malnutrition. He was first treated with a nasogastric tube placement. Subsequently, a laparoscopic Nissen fundoplication and a laparoscopic Stamm gastrostomy were performed. The child was fed with nocturnal enteral nutrition and diurnal oral nutrition. Eventually the patient resumed feeding validly and regained adequate growth.Conclusion: this paper aims to bring to light a complex rare syndrome that infrequently comes to the attention of the pediatricians and that is not simple to diagnose. We also highlight the possible complications from a gastroenterologic point of view. Our contribution can be useful to the pediatrician in the first diagnostic suspicion of this syndrome. In particular, it can be useful to remember that in an infant with Noonan-like features, suction or swallowing problems, vomiting and feeding difficulties should suggest the diagnosis of a Cardio-facio-cutaneous syndrome. It can also be useful to highlight that gastroenterological issues may lead to severe growth failure and that the role of the gastroenterologist is key to manage supplemental feeding and to establish if a nasogastric or gastrostomic tube placement is necessary.