2025 Volume 46 Issue 2 Pages 124-131
CHARGE syndrome is a syndrome of multiple malformations caused by gene mutations, and is often associated with functional disorders such as feeding problems and swallowing disorders, as well as anorexia and sensory deviations around the mouth, which make oral intake insufficient. We report two cases in which patients showed no anorexia or sensory deviations from infancy, and were able to wean themselves off artificial nutrition and start oral intake.
The cases were an 11-month-old boy （Case 1） and a 1-year-old girl （Case 2） at the first visit. They were referred to the feeding clinic with the main complaint of not progressing to weaning food. Immediately after birth, they showed feeding difficulty and received formula milk through a nasogastric tube. However, their refusal to drink bottles and anorexia improved quickly and the gastric tube was removed within 3 months of birth. Based on their feeding function at the first visit, Case 1 was diagnosed as having acquired swallowing function and Case 2 was diagnosed as having acquired lip-closing function. Neither child refused to eat using utensils or weaning food and they were able to drink formula milk from a bottle. Therefore, we provided their guardians with instructions on how to assist with the spoon and on the contents of the food, and decided to progress with the weaning food stage in line with the development of feeding function.
In Case 1, feeding function development was relatively smooth, with grinding and self-feeding functions being acquired by the age of 2 years. As a result, he was able to eat regular food at 2 years and 6 months of age. In Case 2, lateral movement of the mandible was observed in the second year of age, however, bolus formation and transport function were insufficient. In both cases, oral intake was continued without the use of alternative nutrition, but because acceptance of oral intake and development of feeding function differ between cases, continued multidisciplinary support is considered to be necessary.
