Summary
The association of chronic intestinal pseudoobstruction with ophthalmoplegia has been reported previously in visceral myopathies. We report a case of this association in which muscle mitochondria had a crystalline appearance, a dense core, and decreased cytochromec oxidase and succinate cytochromec reductase activities. The absence of evident mitochondrial DNA deletion in the skeletal muscle of this patient does not exclude the possibility of localized deletion or mutation of mitochondrial DNA in digestive muscle.
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Anuras S: Intestinal pseudo-obstruction syndrome. Annu Rev Med 39:1–15, 1988
Krishnamurthy S, Schuffler MD: Pathology of neuromuscular disorders of the small intestine and colon. Gastroenterology 93:610–639, 1987
Mayer EA, Schuffler MD, Rotter JI, Hanna P, Mogard M: Familial visceral neuropathy with autosomal dominant transmission. Gastroenterology 91:1528–1535, 1986
Schuffler MD, Pope CE: Studies of idiopathic intestinal pseudo-obstruction. II. Hereditary hollow visceral myopathy. Family studies. Gastroenterology 73:339–344, 1977
Schuffler MD, Zonak Z: Chronic idiopathic intestinal pseudo-obstruction caused by degenerative disorder of the myenteric plexus: The use of Smith's method to define the neuropathology. Gastroenterology 82:476–486, 1982
Cave DR, Compton CC: A 21-year-old man with progressive gastro-intestinal stasis, hepatomegaly, and a neurologic disorder. N Engl J Med 322:829–841, 1990
Anuras S, Mitros FA, Nowak TV, Ionasescu V, Gurll NJ, Christensen J, Green JB: A familial visceral myopathy with external ophthalmoplegia and autosomal recessive transmission. Gastroenterology 84:346–353, 1983
Ionasescu V, Thompson SH, Ionasescu R, Searby CH, Anuras S, Christensen J, Mitros F, Hart M, Bosch P: Inherited ophthalmoplegia with intestinal pseudoobstruction. J Neurol Sci 59:215–228, 1983
Ionasescu V, Thompson H, Aschenbrener C, Anuras S, Rick WS: Late-onset oculogastrointestinal muscular dystrophy. Am J Med Genet 18:781–788, 1984
Cervera R, Bruix J, Bayes A, Blesa R, Illa I, Coll J, Garcia-Puges AM: Chronic intestinal pseudoobstruction and ophthalmoplegia in a patient with mitochondrial myopathy. Gut 29:544–547, 1988
Hostein J, Bost R, Bonaz B: Motricité de l'intestin grêle. Gastroenterol Clin Biol 13:T6-T9, 1989
Summers RW, Anuras S, Green J: Jejunal manometry patterns in health, partial pseudo-obstruction and pseudo-obstruction. Gastroenterology 85:1290–1300, 1983
Camilleri M, Brown ML, Malagelada JR: Impaired transit of chyme in chronic intestinal pseudoostruction. Correction by cisapride. Gastroenterology 91:619–626, 1986
Hostein J, Bost R, Carpentier P, Franco A, Fournet J: Motricité oesophagienne au cours de la maladie de Raynaud, de la sclérodermie systémique et du syndrome de Raynaud présclérodermique. Gastroenterol Clin Biol 19:130–135, 1985
Hostein J, Fournet J: Gastrointestinal manifestations of collagen diseases. Dig Dis Sci 4:240–252, 1986
Bardosi A, Creutzfeldt W, DiMauro S, Felgenhauer K, Friede RL, Goebel HH, Kohlschutter A, Mayer G, Rahif G, Servidei S, Van Lessen G, Wetterling T: Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. Acta Neuropathol 74:248–258, 1987
Olson W, Engel WK, Walsh GO, Einaugler R: Oculocraniosomatic neuromuscular disease with “ragged-red fibers”. Arch Neurol 26:193–211, 1972
Dubowitz UK, Brooke MH: Muscle Biopsy: A Modern Approach. Philadelphia, WB Saunders, 1973
Morgan-Hughes JA, Darneviza P, Kahn SN, Landon DN, Sherratt RM, Land LM, Clark JB: A mitochondrial myopathy characterized in reducible cytochromeb. Brain 100:617–640, 1977
Morgan-Hughes JA, Hayes DJ, Clark JB, Landon DN, Swash M, Stark RJ, Rudge P: Mitochondrial encephalomyopathies: Biochemical studies in two cases revealing defects in the respiratory chain. Brain 105:553–582, 1982
Parvin R, Pande S: Microdetermination of (−)carnitine and carnitine acetyltransferase activity. Anal Biochem 79:190–201, 1977
Romero NB, Lestienne P, Marsac C, Paturneau-Jouas M, Nelson I, François D, Eymard B, Fardeau M: Immunocytological and histochemical correlation in Kearns-Sayre syndrome with mtDNA deletion and partial cytochromec oxidase deficiency in skeletal muscle. J Neurol Sci 93:297–309, 1989
DiMauro S, Bonilla E, Zeviani M, Nakagawa M, De Vivo DC: Mitochondrial myopathies. Ann Neurol 15:521–538, 1985
Serratrice G, Pelissier JF: Myopathies oculaires. Etude nosologique de 49 cas. Nouv Presse Med 16:1969–1974, 1987
Tome FMS, Fardeau M: Nuclear inclusions in oculopharyngeal dystrophy. Acta Neuropathol 49:85–95, 1980
Bresolin N, Bet L, Binda A, Moggio M, Comi G, Nador F, Ferrante C, Carenzi A, Scarlato G: Clinical and biochemical correlations in mitochondrial myopathies treated with coenzyme Q10. Neurology 38:892–899, 1988
Poulton J, Turnbull DM, Mehta AB, Wilson J, Gardiner RM: Restriction enzyme analysis of the mitochondrial genome in mitochondrial myopathy. J Med Genet 25:600–605, 1988
Wallace DC: Maternal genes: Mitochondrial diseases. Birth Defects 23:137–190, 1987
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Li, V., Hostein, J., Romero, N.B. et al. Chronic intestinal pseudoobstruction with myopathy and ophthalmoplegia. Digest Dis Sci 37, 456–463 (1992). https://doi.org/10.1007/BF01307743
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DOI: https://doi.org/10.1007/BF01307743