Aerophagia and subcutaneous emphysema in a patient with Rett syndrome.

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.

[Early infantile autism and excessive aerophagy with symptomatic megacolon and ileus in a case of Ehlers-Danlos syndrome]. / Autismus infantum und exzessive Aerophagie mit symptomatischem Megakolon und Ileus bei einem Fall von Ehlers-Danlos-Syndrom.

A case of Ehlers-Danlos syndrome is reported, which was associated with mental retardation and early infantile autism. The patient died at the age of 19 by ectasy of the stomach as the result of extreme aerophagy causing a megacolon and by compression so finally resulting in a mechanical ileus. Investigation of the cerebellum revealed a significant rarefication and diminuation of the Purkinjè cells as well as the cells of the stratum granulare in the lobuli VI and VII, obviously due to a genetically determined malformation.