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.

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.

Citation

Fuller, H. R., Shorrock, H. K., Gillingwater, T. H., Pigott, A., Smith, V., Kulshrestha, R., Sewry, C. S., & Willis, T. A. (2017). Two cases of spinal muscular atrophy type II with eosinophilic oesophagitis. Journal of Neuromuscular Diseases, 357-362

• Acceptance Date: Oct 20, 2017
• Publication Date: Nov 21, 2017
• Journal: Journal of Neuromuscular Diseases
• Print ISSN: 2214-3599
• Electronic ISSN: 2214-3602
• Publisher: IOS Press
• Pages: 357-362
• Keywords: Spinal muscular atrophy, SMA, SMN, eosinophilic oesophagitis, dysphagia, gastro-oesophageal reflux, immune dysfunction
• Public URL: https://keele-repository.worktribe.com/output/409587
• Publisher URL: https://doi.org/10.3233%2Fjnd-170260