Two cases of spinal muscular atrophy type II with eosinophilic oesophagitis

Fuller, Heidi R.; Shorrock, Hannah K.; Gillingwater, Thomas H.; Pigott, Anna; Smith, Victoria; Kulshrestha, Richa; Sewry, Caroline S.; Willis, Tracey A.

Two cases of spinal muscular atrophy type II with eosinophilic oesophagitis

Fuller, Heidi R.; Shorrock, Hannah K.; Gillingwater, Thomas H.; Pigott, Anna; Smith, Victoria; Kulshrestha, Richa; Sewry, Caroline S.; Willis, Tracey A.

Authors

Heidi Fuller h.r.fuller@keele.ac.uk

Hannah K. Shorrock

Thomas H. Gillingwater

Anna Pigott

Victoria Smith

Richa Kulshrestha

Caroline S. Sewry

Tracey A. Willis

Abstract

Although primarily characterised by loss of motor neurons from the anterior horn of spinal cord and muscle atrophy, spinal muscular atrophy (SMA) is now recognised as a multi-systemic disorder. Here, we report two SMA Type II patients with eosinophilic oesophagitis (EoE), a rare, chronic immune/antigen-mediated condition. One patient presented with dysphagia and poor weight gain, and the second patient had symptoms of gastro-oesophageal reflux (GOR) and poor weight gain. In both patients, macroscopic observations during gastroscopy indicated typical signs of EoE, which were verified during histological examination of oesophageal biopsies. Given that there is a specific treatment strategy for EoE, these cases highlight the importance of considering this condition in clinical investigations - especially for patients with SMA - who have GOR, discomfort, and oral aversion.

Acceptance Date	Oct 20, 2017
Publication Date	Nov 21, 2017
Journal	Journal of Neuromuscular Diseases
Print ISSN	2214-3599
Publisher	IOS Press
Pages	357-362
Keywords	Spinal muscular atrophy, SMA, SMN, eosinophilic oesophagitis, dysphagia, gastro-oesophageal reflux, immune dysfunction
Publisher URL	https://doi.org/10.3233%2Fjnd-170260