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Abstract

Pathologic Aerophagia in Rett Syndrome

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.


Author(s):

Aldape C and Glaser AM



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