Case report: Gastroenterological management in a case of cardio-facio-cutaneous syndrome
Backgroundcardio-facio-cutaneous syndrome is a rare genetic disorder affecting less than 900 people in the world. It is mainly characterized by craniofacial, dermatologic and cardiac defects, but also gastroenterological symptoms may be present, ranging from feeding difficulties to gastroesophageal...
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Frontiers Media S.A.
2023-04-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2023.1160147/full |
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| author | B. Ciacchini G. Di Nardo M. Marin E. Borali M. Caraccia R. Mogni F. Cairello I. Rabbone G. B Ferrero A. Pini Prato E. Felici |
| author_facet | B. Ciacchini G. Di Nardo M. Marin E. Borali M. Caraccia R. Mogni F. Cairello I. Rabbone G. B Ferrero A. Pini Prato E. Felici |
| author_sort | B. Ciacchini |
| collection | DOAJ |
| description | Backgroundcardio-facio-cutaneous syndrome is a rare genetic disorder affecting less than 900 people in the world. It is mainly characterized by craniofacial, dermatologic and cardiac defects, but also gastroenterological symptoms may 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.Case presentationthe patient was a caucasian male affected by Cardio-Facio-Cutaneous syndrome who presented feeding difficulties already a few hours after birth. These symptoms 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 and enteral nutrition. Eventually the patient resumed feeding validly and regained adequate growth.Conclusionthis paper aims to bring to light a complex rare syndrome that infrequently comes to the attention of the pediatricians and whose diagnosis is not always straightforward. We also highlight the possible complications under a gastroenterologic point of view. Our contribution can be helpful to the pediatrician in the first diagnostic suspect of this syndrome. In particular, it is worth highlighting that -in an infant with Noonan-like features- symptoms like suction or swallowing problems, vomiting and feeding difficulties should orient towards the diagnosis of a Cardio-facio-cutaneous syndrome. It is also important to stress that its related gastroenterological issues may lead to severe growth failure and therefore the role of the gastroenterologist is key to manage supplemental feeding and to establish whether a nasogastric or gastrostomic tube placement is necessary. |
| first_indexed | 2024-04-09T17:42:11Z |
| format | Article |
| id | doaj.art-d843f36ffada47ac8e5245600819724e |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-04-09T17:42:11Z |
| publishDate | 2023-04-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-d843f36ffada47ac8e5245600819724e2023-04-17T04:43:37ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602023-04-011110.3389/fped.2023.11601471160147Case report: Gastroenterological management in a case of cardio-facio-cutaneous syndromeB. Ciacchini0G. Di Nardo1M. Marin2E. Borali3M. Caraccia4R. Mogni5F. Cairello6I. Rabbone7G. B Ferrero8A. Pini Prato9E. Felici10Division of Pediatrics, Department of Health Science, University of Piemonte Orientale, Novara, ItalyNESMOS Department, Faculty of Medicine and Psychology, Sant'Andrea University Hospital, Sapienza University of Rome, Rome, ItalyPediatric and Pediatric Emergency Unit, “U. Bosio” Center for Digestive Diseases, The Children Hospital, AO SS Antonio e Biagio e C. Arrigo, Alessandria, ItalyPediatric and Pediatric Emergency Unit, “U. Bosio” Center for Digestive Diseases, The Children Hospital, AO SS Antonio e Biagio e C. Arrigo, Alessandria, ItalyPediatric Surgery, “U. Bosio” Center for Digestive Diseases, The Children Hospital, AO SS Antonio e Biagio e C. Arrigo, Alessandria, ItalyPediatric and Pediatric Emergency Unit, “U. Bosio” Center for Digestive Diseases, The Children Hospital, AO SS Antonio e Biagio e C. Arrigo, Alessandria, ItalyPediatric and Pediatric Emergency Unit, “U. Bosio” Center for Digestive Diseases, The Children Hospital, AO SS Antonio e Biagio e C. Arrigo, Alessandria, ItalyDivision of Pediatrics, Department of Health Science, University of Piemonte Orientale, Novara, ItalyDepartment of Clinical and Biological Sciences, University of Torino, Turin, ItalyPediatric Surgery, “U. Bosio” Center for Digestive Diseases, The Children Hospital, AO SS Antonio e Biagio e C. Arrigo, Alessandria, ItalyPediatric and Pediatric Emergency Unit, “U. Bosio” Center for Digestive Diseases, The Children Hospital, AO SS Antonio e Biagio e C. Arrigo, Alessandria, ItalyBackgroundcardio-facio-cutaneous syndrome is a rare genetic disorder affecting less than 900 people in the world. It is mainly characterized by craniofacial, dermatologic and cardiac defects, but also gastroenterological symptoms may 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.Case presentationthe patient was a caucasian male affected by Cardio-Facio-Cutaneous syndrome who presented feeding difficulties already a few hours after birth. These symptoms 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 and enteral nutrition. Eventually the patient resumed feeding validly and regained adequate growth.Conclusionthis paper aims to bring to light a complex rare syndrome that infrequently comes to the attention of the pediatricians and whose diagnosis is not always straightforward. We also highlight the possible complications under a gastroenterologic point of view. Our contribution can be helpful to the pediatrician in the first diagnostic suspect of this syndrome. In particular, it is worth highlighting that -in an infant with Noonan-like features- symptoms like suction or swallowing problems, vomiting and feeding difficulties should orient towards the diagnosis of a Cardio-facio-cutaneous syndrome. It is also important to stress that its related gastroenterological issues may lead to severe growth failure and therefore the role of the gastroenterologist is key to manage supplemental feeding and to establish whether a nasogastric or gastrostomic tube placement is necessary.https://www.frontiersin.org/articles/10.3389/fped.2023.1160147/fullpediatricgastroenterologycardio-facio-cutaneous syndrome (CFCS)nutritionsurgery |
| spellingShingle | B. Ciacchini G. Di Nardo M. Marin E. Borali M. Caraccia R. Mogni F. Cairello I. Rabbone G. B Ferrero A. Pini Prato E. Felici Case report: Gastroenterological management in a case of cardio-facio-cutaneous syndrome Frontiers in Pediatrics pediatric gastroenterology cardio-facio-cutaneous syndrome (CFCS) nutrition surgery |
| title | Case report: Gastroenterological management in a case of cardio-facio-cutaneous syndrome |
| title_full | Case report: Gastroenterological management in a case of cardio-facio-cutaneous syndrome |
| title_fullStr | Case report: Gastroenterological management in a case of cardio-facio-cutaneous syndrome |
| title_full_unstemmed | Case report: Gastroenterological management in a case of cardio-facio-cutaneous syndrome |
| title_short | Case report: Gastroenterological management in a case of cardio-facio-cutaneous syndrome |
| title_sort | case report gastroenterological management in a case of cardio facio cutaneous syndrome |
| topic | pediatric gastroenterology cardio-facio-cutaneous syndrome (CFCS) nutrition surgery |
| url | https://www.frontiersin.org/articles/10.3389/fped.2023.1160147/full |
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