MELAS syndrome presenting as an acute surgical abdomen

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.

Posterior Spinal Instrumented Fusion for Idiopathic Scoliosis in Patients with Multisystemic Neurodegenerative Disorder: A Report of Two Cases

“…Nine studies reporting 13 patients with MELAS syndrome who underwent major surgery that required general anaesthesia were found in MEDLINE from January 1966 to June 2015 (Table ). 14,[19][20][21][22][23][24][25][26] There were 3 postoperative mortalities at 30 days, 3 months, and 1 year, as well as 3 patients with asymptomatic metabolic and electrolyte abnormalities.…”

MELAS Syndrome: An Update

“…Intestinal pseudo-obstruction has also been documented in the literature and high calorie parenteral nutrition has been suggested as a treatment modality to resolve symptoms [7,8]. We have previously reported a patient presenting with ischaemic colitis subsequently diagnosed with MELAS [9].…”

Clinical Characteristics of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes

“…A cardinal sign of MELAS syndrome is lactate acidosis. Patients with MELAS syndrome may show elevated lactic acid and pyruvic acid levels in plasma and cerebrospinal fluid (CSF) [71,86,101], and evidence suggests that high lactate levels are associated with increased mortality [32]. Although the affected regions identified by neuroimaging do not correspond to the classical vascular distribution pattern, the lactate levels measured by MR spectroscopy correlate with the degree of neurological impairment and the short survival of patients with MELAS syndrome [102], supporting previous observations that elevated lactate levels, especially in the CSF, may be associated with increased disease severity [32,65].…”