Two Cases of Spinal Muscular Atrophy Type II with Eosinophilic Oesophagitis
Year: 2017
Type: article
Study design: Case Report
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.
DOI: 10.3233/jnd-170260
Authors: Heidi R. Fuller, Hannah K. Shorrock, Thomas H. Gillingwater, Anna Pigott, Victoria Smith, Richa Kulshrestha, Caroline S. Sewry, Tracey A. Willis
Institutions: Robert Jones and Agnes Hunt Orthopaedic Hospital, Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Trust, Keele University, Euan MacDonald Centre for Motor Neuron Disease Research, University of Edinburgh, University Hospitals of North Midlands NHS Trust, Royal Stoke University Hospital
Language: English
Topic: Eosinophilic Esophagitis
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W2769331044