Pathologic Aerophagia in Rett Syndrome

Aldape C,Glaser Am

doi:10.4172/2472-1786.100049

Abstract

Context: Pathologic aerophagia is defined as air swallowing causing abdominal distension and/or repetitive flatulence/belching present for greater than 12 weeks in a year. Pathologic aerophagia, which can be exacerbated by anxious behavior, is common in Rett Syndrome patients and can cause significant distress. Case report: We report a case of an 8-year-old female, with Rett Syndrome, who developed persistent abdominal distension, with intestinal dilatation noted on x-ray, due to pathologic aerophagia, exacerbated by her anxious behavior. Air swallowing was only recognized after readmission into the hospital as well as after seen by multiple pediatric physicians. Once air swallowing was identified, it was mitigated with the use of a selective serotonin inhibitor and her abdominal distension noted to have lessened. Conclusion: Clinically significant air swallowing contributing to abdominal distention has not been previously described in Rett syndrome. This case is important for pediatricians, as he or she may be the first to evaluate a Rett Syndrome patient with pathologic aerophagia contributing to intestinal dilatation. Moreover, this case exemplifies the success of managing a Rett Syndrome patient’s anxious behavior as well as irregular breathing with an SSRI and thus reducing pathologic aerophagia. With knowledge of pathologic aerophagia in Rett Syndrome patients, physicians can readily attempt to diminish air swallowing and thus decrease intestinal dilatation, prevent severe complications, as well as minimize hospital admission time.

Highlights

Rett Syndrome (RS) is a neurodevelopmental disorder characterized by partial or complete loss of fine motor and communication skills, stereotypic movements, significant cognitive impairment, and growth failure
There is a low level of evidence regarding the treatment of pathologic aerophagia various pharmacological treatments have been suggested including the use of Selective Serotonin Inhibitors (SSRIs) as described in our report
The patient may have prolonged periods of breath holding exceeding 1 min and may be accompanied by air swallowing leading to significant abdominal distension, known as aerophagia [3]

Summary

Conclusion

Significant air swallowing contributing to abdominal distention has not been previously described in Rett syndrome. This case is important for pediatricians, as he or she may be the first to evaluate a Rett Syndrome patient with pathologic aerophagia contributing to intestinal dilatation. This case exemplifies the success of managing a Rett Syndrome patient’s anxious behavior as well as irregular breathing with an SSRI and reducing pathologic aerophagia. With knowledge of pathologic aerophagia in Rett Syndrome patients, physicians can readily attempt to diminish air swallowing and decrease intestinal dilatation, prevent severe complications, as well as minimize hospital admission time.

Introduction

Discussion and Conclusion