Affiliations: [a] Wolfson Centre for Inherited Neuromuscular Disease, RJAH Orthopaedic Hospital, Oswestry, UK
| [b] Institute for Science and Technology in Medicine, Keele University, Staffordshire, UK
| [c] Centre for Integrative Physiology, University of Edinburgh, Edinburgh, UK
| [d] Children’s Centre, University Hospital of North Midlands NHS Trust, Royal Stoke University Hospital, Newcastle Road, Stoke-on-Trent, UK
| [e] Department of Pathology, University Hospital of North Midlands NHS Trust, Royal Stoke University Hospital, Newcastle Road, Stoke-on-Trent, UK
| [f] Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh, Edinburgh, UK
Correspondence to: Tracey A. Willis, Tel.: +44 0 1691 404047; Fax: +44 0 1691 404065; E-mail: [email protected]. and Heidi R. Fuller, Tel.: +44 0 1691 404693; Fax: +44 0 1691 404065; E-mail: [email protected].
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.