GI Letter for Medical Care Provider

This letter is written from the Cornelia de Lange Syndrome (CdLS) Foundation in conjunction with the pediatric gastroenterologists on the CdLS Clinical Advisory Board. I am writing to you with our gastrointestinal evaluation recommendations. This is an area affected in CdLS with potentially very serious complications and sequelae related to other body systems.

It is important that children with CdLS be evaluated and followed at some regular interval for gastroesophageal reflux (GER), preferably by a pediatric gastroenterologist. At the minimum, any child with CdLS and GER needs an upper-gastrointestinal series to evaluate for malrotation, a congenital abnormality of bowel rotation that can be “silent” until an acute presentation where the bowel twists on its vascular pedicle, resulting in necrosis of the intestine, a life-threatening emergency, and a not infrequent cause of mortality in CdLS. There are a variety of different gastrointestinal tests, which may be used to evaluate for GER (and even other intra-abdominal problems) including: 

• contrast studies (upper GI, small bowel follow-through, barium enema), 
• endoscopy,
• pH probe (both on and off medications) (often poorly tolerated in CdLS),
• and various nuclear medicine studies. 

It is best that the use of these tests be tailored to the individual child, depending on the present symptoms and past findings.
These decisions are best made jointly by the doctor and parents or guardians. Likewise, it is sometimes the best decision to first consider a trial on a reflux medication, and then to reassess for any improvement in symptoms; however, this can be more difficult and subjective in the setting of silent reflux, which occurs not infrequently in CdLS. As far as the interval between appointments, I would recommend an appointment with a pediatric gastroenterologist at the time of the initial CdLS diagnosis.