Abstract
MELAS (mitochondrial cytopathy, encephalomyopathy, lactic acidosis and stroke-like episodes) is a syndrome in which signs and symptoms of gastrointestinal disease are uncommon if not rare. We describe the case of a young woman who presented as an acute surgical emergency, diagnosed as toxic megacolon necessitating an emergency total colectomy. MELAS syndrome was suspected postoperatively owing to persistent lactic acidosis and neurological symptoms. The diagnosis was later confirmed with histological and genetic studies. This case highlights the difficulties in diagnosing MELAS because of its unpredictable presentation and clinical course. We therefore recommend a high index of suspicion in cases of an acute surgical abdomen with additional neurological features or raised lactate.
Highlights
IntroductionMELAS syndrome (mitochondrial cytopathy, encephalomyopathy, lactic acidosis and stroke like episodes) is an uncommon, progressive, neurodegenerative disease in which gastrointestinal involvement is a rare feature
MELAS syndrome is an uncommon, progressive, neurodegenerative disease in which gastrointestinal involvement is a rare feature
Magnetic resonance imaging of the brain was performed for persistent galactorrhoea, which ruled out a pituitary mass but showed basal ganglia calcification; she was diagnosed with bilateral neurosensory loss
Summary
MELAS syndrome (mitochondrial cytopathy, encephalomyopathy, lactic acidosis and stroke like episodes) is an uncommon, progressive, neurodegenerative disease in which gastrointestinal involvement is a rare feature. Subsequent intestinal and muscle biopsy as well as genetic studies confirmed the diagnosis of MELAS syndrome This case report highlights the uncommon presentation, diagnostic difficulties and significant morbidity associated with this disease. Clinical examination revealed diffuse tenderness with rebound signs in the lower abdomen She went on to have an episode of collapse from which she was resuscitated and taken to the intensive care unit (ICU), sedated, intubated and ventilated. In the ICU, the patient was severely acidotic with blood gas analysis showing a pH 7.09, lactate levels of 15mmol/l and a base excess of 22 This started to normalise with large amounts of fluid. Subsequent flexible sigmoidoscopy showed ischaemic mucosa from the rectosigmoid junction to the descending colon At this time, a diagnosis of acute colitis or toxic megacolon secondary to ulcerative colitis was made.
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callMore From: The Annals of The Royal College of Surgeons of England
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
