Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0162671 (MELAS)
 587 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 67-year-old woman had frequent subacute ileus, hearing difficulty, muscle atrophy and stroke-like episodes. Computed tomography revealed multiple low-density areas, which did not correlate with the vascular supply, in the cerebral cortex. She had metabolic disturbance comprising lactic acidosis and elevated pyruvate level. Her skeletal muscle biopsy specimen showed ragged-red fibers, and mitochondrial DNA analysis revealed a point mutation at position 3243, findings consistent with MELAS. Examination of her small intestine revealed a necrotic zone and numerous abnormal large mitochondria in the smooth muscle cells, vascular media and endothelium, and intestinal ganglion cells. The cerebral cortex showed multiple microcystic necrotic foci in cerebral cortex. Cactus-like pathology resembling the changes associated with Menkes' kinky hair disease and torpedoes were observed in the cerebellar Purkinje cells. The intestinal dysmotility due to MELAS and cerebellar changes were presumed to be associated with a disturbance of copper metabolism.
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PMID:Mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes (MELAS) with prominent degeneration of the intestinal wall and cactus-like cerebellar pathology. 1107 25

A 26-year-old female patient presented with the clinical picture of an acute ileus. Since childhood the patient has been diagnosed as having a MELAS syndrome, a mitochondriopathy. A subtotal colectomy was performed some years ago because of a similar ileus episode. The further diagnostic work-up revealed an expanded small intestine in abdominal radiography. Laboratory analysis showed increased levels of serum lactate with a consecutive respiratory compensated metabolic acidosis. A conservative treatment regime with nasogastric tube, fluid therapy, parental nutrition via peripheral veins and peristalsis inducing drugs was initiated, but did not resolve ileus symptoms. Under the hypothesis that in MELAS syndrome the ileus-related catabolic state aggravates the ileus symptoms in terms of a circulus vitiosus, we started high-caloric parenteral nutrition by using a central venous catheter. A few hours after this intervention, a clear clinical improvement could be observed. Since this initial presentation, the patient was admitted to our hospital several times with the same ileus symptoms. Each of the episodes was successfully and rapidly treated by this high-caloric parenteral nutrition therapy. The reproducible rapid clinical improvement after starting parenteral nutrition supports the hypothesis that an optimal energy supply is the key therapy not only for cerebral but also for gastrointestinal symptoms in patients with MELAS syndrome.
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PMID:An unusual case of paralytic ileus. 2315 Jan 8