Late-Onset Pyloric Stenosis and Intussusception With Final Diagnosis of Food Proteins' Hypersensitivity in Schaaf-Yang Syndrome: A Case Report.
food allergy
gastrointestinal disease
pediatrics
rare disease
Journal
JPGN reports
ISSN: 2691-171X
Titre abrégé: JPGN Rep
Pays: United States
ID NLM: 101773885
Informations de publication
Date de publication:
May 2022
May 2022
Historique:
received:
28
02
2022
accepted:
28
03
2022
medline:
12
5
2023
pubmed:
12
5
2023
entrez:
11
5
2023
Statut:
epublish
Résumé
Schaaf-Yang syndrome (SYS) is a rare neurodevelopmental disorder whose clinical spectrum includes neurodevelopment delay, dysmorphic features, and gastrointestinal symptoms such as feeding difficulties, gastroesophageal reflux, and chronic constipation. Given the small number of patients diagnosed with this syndrome, our aim is to describe novel clinical features that have not yet been reported. The patient we are describing is a 14-year-old male affected by a severe form of SYS. Initial clinical presentation included respiratory distress at birth, feeding difficulties, and neurodevelopmental delay. Since the age of 8 months, he had been tube fed with a semi-elemental formula, and this was well tolerated. At 9 years of age, the pathological mutation (variant
Identifiants
pubmed: 37168918
doi: 10.1097/PG9.0000000000000202
pmc: PMC10158381
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e202Informations de copyright
Copyright © 2022 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition.
Déclaration de conflit d'intérêts
The authors report no conflicts of interest.
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