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Lookup NU author(s): Dr Yi Ng, Catherine Feeney, Dr Andrew Schaefer, Paula Hynd, Dr Charlotte Alston, Dr John Grady, Alexandra Bright, Professor Robert Taylor, Professor Yan Yiannakou, Professor Bobby McFarlandORCiD, Emeritus Professor Doug Turnbull, Professor Grainne Gorman
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
ObjectivesThe m.3243A>G MTTL1 mutation is the most common cause of mitochondrial disease; yet there is limited awareness of intestinal pseudo-obstruction (IPO) in this disorder. We aimed to determine the prevalence, severity, and clinical outcome of patients with m.3243A>G-related mitochondrial disease manifesting with IPO.MethodsIn this large, observational cohort study, we assessed the clinical, molecular, and radiological characteristics of patients with genetically determined m.3243A>G-related mitochondrial disease, who presented with severe symptoms suggestive of bowel obstruction in the absence of an occluding lesion.ResultsBetween January 2009 and June 2015, 226 patients harbouring the m.3243A>G mutation were recruited to the Medical Research Council Centre Mitochondrial Disease Patient Cohort, Newcastle. Thirty patients (13%) presented acutely with IPO. Thirteen of these patients had a preceding history of stroke-like episodes, whereas 1 presented 27 years previously with their first stroke-like episode. Eight patients developed IPO concomitantly during an acute stroke-like episode. Regression analysis suggested stroke was the strongest predictor for development of IPO, in addition to cardiomyopathy, low body mass index and high urinary mutation load. Poor clinical outcome was observed in 6 patients who underwent surgical procedures.InterpretationOur findings suggest, in this common mitochondrial disease, that IPO is an under-recognized, often misdiagnosed clinical entity. Poor clinical outcome associated with stroke and acute surgical intervention highlights the importance of the neurologist having a high index of suspicion, particularly in the acute setting, to instigate timely coordination of appropriate care and management with other specialists. Ann Neurol 2016;80:686-692
Author(s): Ng YS, Feeney C, Schaefer AM, Holmes CE, Hynd P, Alston CL, Grady JP, Roberts M, Maguire M, Bright A, Taylor RW, Yiannakou Y, McFarland R, Turnbull DM, Gorman GS
Publication type: Article
Publication status: Published
Journal: Annals of Neurology
Year: 2016
Volume: 80
Issue: 5
Pages: 686-692
Print publication date: 01/11/2016
Online publication date: 19/09/2016
Acceptance date: 14/07/2016
Date deposited: 20/01/2017
ISSN (print): 0364-5134
ISSN (electronic): 1531-8249
Publisher: John Wiley & Sons, Inc.
URL: http://dx.doi.org/10.1002/ana.24736
DOI: 10.1002/ana.24736
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