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Avoidant-restrictive food intake disorder in a male patient with Goldenhar syndrome

BACKGROUND: Goldenhar syndrome (GS) is a rare congenital condition characterized by the underdevelopment of structures deriving from the first and second branchial arches. Clinical phenotype might encompass extra-craniofacial abnormalities, and patients may experience neuropsychiatric disorders with...

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Autores principales: Bergonzini, Luca, Pruccoli, Jacopo, Parmeggiani, Antonia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9618299/
https://www.ncbi.nlm.nih.gov/pubmed/36310338
http://dx.doi.org/10.1007/s40519-022-01497-1
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author Bergonzini, Luca
Pruccoli, Jacopo
Parmeggiani, Antonia
author_facet Bergonzini, Luca
Pruccoli, Jacopo
Parmeggiani, Antonia
author_sort Bergonzini, Luca
collection PubMed
description BACKGROUND: Goldenhar syndrome (GS) is a rare congenital condition characterized by the underdevelopment of structures deriving from the first and second branchial arches. Clinical phenotype might encompass extra-craniofacial abnormalities, and patients may experience neuropsychiatric disorders with a higher prevalence than healthy controls. To the best of our knowledge, an association between GS and Feeding and Eating Disorders (FED) has never been reported in the literature. CASE REPORT: A 15-year-old boy with GS was referred to our outpatient clinic due to severe underweight (BMI of 12.7 kg/m(2)) and food intake disorder with avoidant restrictive features. After a diagnosis of avoidant-restrictive food intake disorder (ARFID) was made, an inpatient multidisciplinary intervention and outpatient follow-up program were provided, which resulted in the improvement of the boy’s weight and FED psychopathology. CONCLUSIONS: The current report describes the first case of a young male with GS and ARFID. We suggest that ARFID may present itself as part of the spectrum of neuropsychiatric disorders associated with the syndrome; since traumatic experiences and gastrointestinal discomfort play a pivotal role in the development of ARFID among children, attention should be paid to those affected by GS that involves crucial structures in the swallowing process. Further literature evidence will help portray the complex relationship between ARFID and GS more precisely. LEVEL OF EVIDENCE: Level V, case report.
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spelling pubmed-96182992022-10-31 Avoidant-restrictive food intake disorder in a male patient with Goldenhar syndrome Bergonzini, Luca Pruccoli, Jacopo Parmeggiani, Antonia Eat Weight Disord Case Report BACKGROUND: Goldenhar syndrome (GS) is a rare congenital condition characterized by the underdevelopment of structures deriving from the first and second branchial arches. Clinical phenotype might encompass extra-craniofacial abnormalities, and patients may experience neuropsychiatric disorders with a higher prevalence than healthy controls. To the best of our knowledge, an association between GS and Feeding and Eating Disorders (FED) has never been reported in the literature. CASE REPORT: A 15-year-old boy with GS was referred to our outpatient clinic due to severe underweight (BMI of 12.7 kg/m(2)) and food intake disorder with avoidant restrictive features. After a diagnosis of avoidant-restrictive food intake disorder (ARFID) was made, an inpatient multidisciplinary intervention and outpatient follow-up program were provided, which resulted in the improvement of the boy’s weight and FED psychopathology. CONCLUSIONS: The current report describes the first case of a young male with GS and ARFID. We suggest that ARFID may present itself as part of the spectrum of neuropsychiatric disorders associated with the syndrome; since traumatic experiences and gastrointestinal discomfort play a pivotal role in the development of ARFID among children, attention should be paid to those affected by GS that involves crucial structures in the swallowing process. Further literature evidence will help portray the complex relationship between ARFID and GS more precisely. LEVEL OF EVIDENCE: Level V, case report. Springer International Publishing 2022-10-30 2022 /pmc/articles/PMC9618299/ /pubmed/36310338 http://dx.doi.org/10.1007/s40519-022-01497-1 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Case Report
Bergonzini, Luca
Pruccoli, Jacopo
Parmeggiani, Antonia
Avoidant-restrictive food intake disorder in a male patient with Goldenhar syndrome
title Avoidant-restrictive food intake disorder in a male patient with Goldenhar syndrome
title_full Avoidant-restrictive food intake disorder in a male patient with Goldenhar syndrome
title_fullStr Avoidant-restrictive food intake disorder in a male patient with Goldenhar syndrome
title_full_unstemmed Avoidant-restrictive food intake disorder in a male patient with Goldenhar syndrome
title_short Avoidant-restrictive food intake disorder in a male patient with Goldenhar syndrome
title_sort avoidant-restrictive food intake disorder in a male patient with goldenhar syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9618299/
https://www.ncbi.nlm.nih.gov/pubmed/36310338
http://dx.doi.org/10.1007/s40519-022-01497-1
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