Ileus in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes

Netherlands Journal of Medicine

Volumn 53, Issue 1, 1998, Pages 27-31

  Hiel, Johan A P ^a   Verrips, Aad ^b   Keyser, Antoine ^b   Jansen, Tim L Th A ^b   Wesseling, Pieter ^b   De Coo, René ^b,c   Gabreëls, Fons J M ^b  

^a ST JOSEPH HOSPITAL   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

MELAS syndrome; Mutated mitochondrial DNA; Paralytic ileus; Smooth muscle dysfunction

Indexed keywords

CARBAMAZEPINE; MITOCHONDRIAL DNA;

ADULT; ARTICLE; AUTOPSY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA DETERMINATION; ELECTRON MICROSCOPY; ENCEPHALOMYOPATHY; FATALITY; FEMALE; HUMAN; HUMAN TISSUE; LACTIC ACIDOSIS; MICROSCOPY; MUTATION; PARALYTIC ILEUS; SEIZURE; SHOCK; STROKE; X RAY ANALYSIS;

ADULT; FEMALE; HUMANS; INTESTINE, SMALL; MELAS SYNDROME; MUSCLE, SKELETAL; MUSCLE, SMOOTH;

EID: 0031823432     PISSN: 03002977     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0300-2977(98)00018-7     Document Type: Article

References (20)

1. Johns D.R. Seminars in medicine of the Beth Israel Hospital, Boston: mitochondrial DNA and disease. N. Engl. J. Med. 333:1995;638-644.
2. Pavlakis S.G., Phillips P.C., DiMauro S., De Vivo D.C., Rowland L.P. Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes: a distinctive clinical syndrome. Ann. Neurol. 16:1984;481-488.
3. Wallace D.C. Diseases of the mitochondrial DNA. Annu. Rev. Biochem. 61:1992;1175-1212.
4. Leu[3243]) in tissues of symptomatic relatives with MELAS: the role of mitotic segregation. Neurology. 43:1993;1586-1590.
5. Anan R., Nakagawa M., Miyata M.et al. Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects. Circulation. 91:1995;955-961.
6. (LEU)(UUR) gene: a study in seven families with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). Diabetologia. 37:1994;818-825.
7. Bardosi A., Creutzfeldt W., DiMauro S.et al. Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder. Acta Neuropathol. Berl. 74:1987;248-258.
8. Hirano M., Silvestri G., Blake DM.et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. Neurology. 44:1994;721-727.
9. Yamamoto M., Sato T., Anno M., Ujike H., Takemoto M. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes with recurrent abdominal symptoms and coenzyme Q10 administration. J. Neurol. Neurosurg. Psychiatry. 50:1987;1475-1481.
10. Bernsen P.L., Gabreëls F.J., Ruitenbeek W., Hamburger H.L. Treatment of complex I deficiency with riboflavin. J. Neurol. Sci. 118:1993;181-187.
11. Sambrook J, Fritsch EF, Maniatis T. Molecular cloning: A laboratory manual. 2nd ed. New York: Cold Spring Harbor Laboratory, 1989.
12. (Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature. 348(6302):1990;651-653.
13. Ionasescu V. Oculogastrointestinal muscular dystrophy. Am. J. Med. Genet. 15:1983;103-112.
14. Cave D., Compton C. Case records of the Massachusetts General Hospital. N. Engl. J. Med. 322:1990;829-841.
15. Ban S., Mori N., Saito K., Mizukami K., Suzuki T., Shiraishi H. An autopsy case of mitochondrial encephalomyopathy (MELAS) with special reference to extra-neuromuscular abnormalities. Acta Pathol. Jpn. 42:1992;818-825.
16. Simon L.T., Horoupian D.S., Dorfman L.J.et al. Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction: POLIP syndrome. Ann. Neurol. 28:1990;349-360.
17. Nicoll J.A., Moss T.H., Love S., Campbell M.J., Schutt W.H. Clinical and autopsy findings in two cases of MELAS presenting with stroke-like episodes but without clinical myopathy. Clin. Neuropathol. 12:1993;38-43.
18. Kishi M., Yamamura Y., Kurihara T.et al. An autopsy case of mitochondrial encephalomyopathy: biochemical and electron microscopic studies of the brain. J. Neurol. Sci. 86:1988;31-40.
19. Sakuta R., Nonaka I. Vascular involvement in mitochondrial myopathy. Ann. Neurol. 25:1989;594-601.
20. Kishimoto M., Hashiramoto M., Kanda F., Tanaka M., Kasuga M. Mitochondrial mutation in diabetic patient with gastrointestinal symptoms. Lancet. 345:1995;452.