The successful management of the gastrointestinal complaints of patients with CdLS remains a challenge. Problems based in the gastrointestinal tract exist in a very high percentage of patients with CdLS. Complaints can originate from the upper GI tract, including the esophagus, stomach, and upper small intestine. Problems from these areas can be mild and easily manageable, such as occasional symptoms of vomiting, belching, heartburn, or intermittent poor appetite. As these symptoms become more severe, more consistent, and more difficult to overcome, they require a more comprehensive evaluation.
Complaints can also originate from the lower GI tract, including the large intestine, the rectum and anus. These complaints also can be mild and easily manageable, or severe, requiring evaluation. Problems with the lower areas of the GI tract typically involve the formation and passage of stool. Constipation, diarrhea, and gaseous distension with cramping are common problems.
Formal assessments of problems can be done by your primary care physician and, if needed, by a consulting gastroenterologist. Common studies done for both upper, and lower GI tract problems can involve blood tests, stool tests, X-ray studies, and endoscopic studies. Even though we have a great deal of knowledge about these common disorders, accurate and timely diagnosis, cannot always be assured, even in the hands of consulting specialists.
The normal process of eating and digestion is very complex. The stomach secretes a strong acid that begins the process of digestion. Since the esophagus is not designed to tolerate the effects of acid exposure, stomach acid that washes back up continuously onto the esophagus can cause an injury known as reflux esophagitis. This simple act of acid regurgitation has also been implicated in a large number of other problems. Many different diseases of the lung, as well as feeding difficulties and diseases of the ear, nose and throat, are now thought to stem from the process of regurgitation of acid. Gastroesophageal reflux disease (GERD) is the term that collectively describes all of these different diseases.
Sandifer Syndrome which is sometimes seen in individuals with CdLS is characterized by severe gastroesophageal reflux and unusual body movements such as wiggling and moving constantly, turning the head to one side or throwing the head back.
If GERD with esophagitis is suspected, an upper endoscopy is commonly performed. It is important that patients with CdLS who present with chronic pain, thought to be related to the GI tract, undergo a standard acid-reflux evaluation. The treatment for reflux usually consists of special diets, medications, and elevating a child after eating. When these treatments are not successful surgical procedures such as a Nissen fundoplication and a gastrostomy may be necessary. The Nissen results in a narrowing of the lower esophagus and the gastrostomy provides a hole in the stomach, thus allowing for feeding by a G-tube and providing an outlet for stomach gases.
Presenting symptoms in people with CdLS may be classified as straightforward acid reflux, but they may not respond in the same way as other patients. Local consultants, skilled in the evaluation and treatment of acid-induced reflux disease, but inexperienced with CdLS patients, may unintentionally mislead parents. In CdLS, these symptom complexes may be multi-factorial. If standard treatments for reflux are unsuccessful, discussions involving other options may be helpful. intelligence.