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Peer-reviewed veterinary case report

Clinicopathologic evaluation of congenital idiopathic megaesophagus in a Gordon Setter puppy: a case report and development and application of peripherin immunohistochemistry for detection of ganglion cells.

Journal:
Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc
Year:
2024
Authors:
Becker, Cecilie B & Jensen, Henrik E
Affiliation:
Department of Veterinary and Animal Sciences
Species:
dog

Plain-English summary

A 5-week-old female Gordon Setter puppy was diagnosed with congenital idiopathic megaesophagus, a condition where the esophagus is enlarged and doesn't function properly. The puppy was not gaining weight and had a noticeably dilated esophagus, which affected her heart and lungs. During an autopsy, doctors found that the muscles of the esophagus were weak, there were sores in the lining, and there was a significant decrease in nerve cells that help control the esophagus. This condition was confirmed using a special staining technique that highlighted the lack of these nerve cells. Unfortunately, the findings suggest a serious issue with her esophagus, and the treatment options may be limited.

Abstract

We examined a case of congenital idiopathic megaesophagus (CIM) in a 5-wk-old female Gordon Setter puppy by means of contrast radiography, autopsy, histopathology, and immunohistochemistry. Clinical and radiologic findings included weight stagnation and marked generalized esophageal dilation with ventral displacement of the heart and lungs. These findings were confirmed at autopsy, and segments of the thoracic esophagus were sampled for histopathology. On histopathology, diffuse esophageal muscular atrophy, mucosal erosions, mononuclear inflammation, and a marked reduction in the number of myenteric plexus structures and number of ganglion cells were present (aganglionosis). The latter was determined immunohistochemically using an anti-peripherin antibody as the primary reagent, which provides a strong tool for the histologic confirmation of CIM. The histologic findings share some similarities to lesions associated with megaesophagus in Friesian foals, as well as esophageal achalasia and Hirschsprung disease in humans.

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Original publication: https://pubmed.ncbi.nlm.nih.gov/38305240/