Aerophagia and subcutaneous emphysema in a patient with Rett syndrome | Ear, Nose & Throat Journal Skip to content Skip to navigation

Aerophagia and subcutaneous emphysema in a patient with Rett syndrome

| Reprints
March 14, 2018
by Christine M. Clark, MD; Shivani Shah-Becker, MD; Abraham Mathew, MD; Neerav Goyal, MD, MPH

Abstract

A patient with Rett syndrome presented to our Emergency Department with extensive subcutaneous emphysema in the cervical region, chest wall, upper extremities, and back. Diagnostic evaluation revealed a mucosal tear in the posterior pharyngeal wall and an abscessed retropharyngeal lymph node, but she had no known history of trauma to account for these findings. This report discusses the occurrence of subcutaneous emphysema in the context of a rare neurodevelopmental disorder and proposes accentuated aerophagia, a sequela of Rett syndrome, as the most likely underlying mechanism.

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