Fuller, HR, Shorrock, HK, Gillingwater, TH, Pigott, A, Smith, V, Kulshrestha, R, Sewry, CS and Willis, TA (2017) Two cases of spinal muscular atrophy type II with eosinophilic oesophagitis. Journal of Neuromuscular Diseases, 4 (4). pp. 357-362. ISSN 2214-3602

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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.

Item Type: Article
Additional Information: This is the accepted author manuscript (AAM). The final published version (version of record) will be available online via IOS Press at https://www.iospress.nl/journal/journal-of-neuromuscular-diseases/ - please refer to any applicable terms of use of the publisher.
Uncontrolled Keywords: Spinal muscular atrophy, SMA, SMN, eosinophilic oesophagitis, dysphagia, gastro-oesophageal reflux, immune dysfunction
Subjects: R Medicine > R Medicine (General)
Divisions: Faculty of Medicine and Health Sciences > Institute for Science and Technology in Medicine
Depositing User: Symplectic
Date Deposited: 20 Oct 2017 12:47
Last Modified: 24 Aug 2018 09:28
URI: https://eprints.keele.ac.uk/id/eprint/4125

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