Late Dumping Syndrome in a 17‐Year‐Old Female With Charge Syndrome

We would like to draw your attention to a digestive disorder that has not been previously described in CHARGE syndrome. CHARGE syndrome is a mnemonic that stands for some of the common clinical features: coloboma of the eye, heart problems, atresia/stenosis of the choanae, retardation of growth and/or development, genitourinary abnormalities, and ear anomalies. A 17-year-old female with a confirmed genetic diagnosis of CHARGE syndrome presented to her general paediatrician's clinic describing newly occurring symptoms of lightheadedness, dizziness and a blurred visual field with black dots, approximately 1 h after a meal. Her CHARGE syndrome features1 included retinal coloboma; choanal stenosis and atresia; semicircular canal hypoplasia; cranial nerve dysfunction (absent sense of smell, facial palsy, hearing and swallowing impairment); ear malformations; heart defects; developmental delay; and genitourinary abnormalities. Past surgical history included two Nissen fundoplication surgical procedures (age 3 and 9 years) to treat her severe gastroesophageal reflux disease. Gastrostomy tube feeding was necessary up until 13 years of age. The adolescent was diagnosed with late dumping syndrome, which refers to symptoms and signs of reactive hypoglycaemia when food reaches the small bowel too rapidly, as the presence of glucose in the jejunum is a strong stimulus for insulin secretion.2 It can occur after a gastrectomy, oesophageal surgery or even after no surgery. Symptoms include hypoglycaemia, perspiration, palpitations, hunger, weakness, confusion, tremor and syncope.2 First line treatment consists of consuming smaller amounts of food in one sitting, delaying liquid intake until at least 30 min after a meal and avoiding sweetened foods.2 Nissen fundoplication is one of the most common surgical procedures undergone in CHARGE syndrome to treat gastroesophageal reflux disease, with some individuals undergoing this procedure two or three times due to a high failure rate.1, 3 Late dumping syndrome has not been previously reported in the CHARGE syndrome literature. Its presentation may be unique in CHARGE syndrome, with symptoms presenting up to a decade after surgery. Furthermore, the treatment recommendations can be difficult to implement as individuals often display difficult feeding behaviours such as pocketing of food in cheeks, over-stuffing one's mouth with food or consuming texture-restricted diets (e.g. puree only) (Table 1).3 These feeding challenges are often not elicited in the general history. It is known from the CHARGE syndrome Facebook page and the International CHARGE conferences that the symptoms of late dumping syndrome are not unusual. Continual surveillance for late dumping syndrome should be a standard part of health care management in CHARGE syndrome. The newly developed checklist4 can aid in health supervision across the lifespan, making sure that new issues are not missed.

Récupéré en direct depuis OpenAlex et désinversé. Les résumés ne sont pas conservés dans cette base de données : les index inversés représentent 8,6 Go des 9,3 Go de texte de la base, et le serveur dispose de 13 Go libres.