Familial occurrence of intestinal obstruction in children with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)

The syndrome of mitochondrial encephalomyopathy, tactic acidosis, and strok e-like episodes (MELAS) is an uncommon neuromuscular disorder caused by mit ochondrial dysfunctions that result in headaches, seizures, and progressive dementia. The authors describe a clinical case study of gastrointestinal m anifestations ina pedigree with MELAS, in which ail-three children, ages 11 , 8, and 6, demonstrated acute onset of intestinal obstruction. They unexpe ctedly showed severe abdominal distension and vomiting. Their parents had n o clinical manifestation. The first female sibling underwent an emergent la parotomy because she was diagnosed to have intestinal strangulation. She ha d postoperative complications caused by progressive lactic acidosis and die d the next day. The second and third sisters had similar onsets of the dise ase and were treated with gastrointestinal decompression and intravenous ad ministration:of lactate-free fluid and coenzyme Q10. Genetic testing using blood samples showed an A-to-G point mutation at nucleotide position 3243 i n the tRNA(Leu(UUR)) region in the mitochondrial DNA. In MELAS children who demonstrate acute onset of gastrointestinal manifestations, a careful revi ew of family history and an elevation of serum lactate and pyruvate revels may enable a differential diagnosis to be made of acute abdomen to avoid un necessary surgical intervention. J Pediatr Surg 33:1837-1839. Copyright (C) 1998 by W.B. Saunders Company.