Mitochondrial neurogastrointestinal encephalomyopathy associated with progressive hearing loss

Journal of Laryngology and Otology

Volumn 124, Issue 9, 2010, Pages 1007-1009

  Hiraki, N ^a   Udaka, T ^b   Yamamoto, H ^a   Kadokawa, Y ^b   Ohkubo, J ^c   Suzuki, H ^c  

^a HAMAMATSU ROSAI HOSPITAL   (Japan)

^b KUMAMOTO ROSAI HOSPITAL   (Japan)

^c UNIVERSITY OF OCCUPATIONAL AND ENVIRONMENTAL HEALTH   (Japan)

Author keywords

Mitochondrial Neurogastrointestinal Encephalomyopathy; Sensorineural Hearing Loss; Thymidine Phosphorylase

Indexed keywords

THYMIDINE PHOSPHORYLASE;

ABDOMINAL PAIN; ADULT; ARTICLE; CASE REPORT; DIARRHEA; DISEASE ASSOCIATION; DISEASE COURSE; ENZYME ACTIVITY; ENZYME BLOOD LEVEL; FEMALE; GENE MUTATION; HEARING LOSS; HUMAN; LEUKOENCEPHALOPATHY; MNGIE SYNDROME; MUSCLE WEAKNESS; OPHTHALMOPLEGIA; PURE TONE AUDIOMETRY; TINNITUS;

AUDIOMETRY, PURE-TONE; DIAGNOSIS, DIFFERENTIAL; DISEASE PROGRESSION; ELECTROMYOGRAPHY; FEMALE; HEARING LOSS, BILATERAL; HEARING LOSS, SENSORINEURAL; HUMANS; INTESTINAL PSEUDO-OBSTRUCTION; MAGNETIC RESONANCE IMAGING; MIDDLE AGED; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUSCLE WEAKNESS; POINT MUTATION; RARE DISEASES; THYMIDINE PHOSPHORYLASE; TINNITUS;

EID: 78649952846     PISSN: 00222151     EISSN: 17485460     Source Type: Journal    
DOI: 10.1017/S0022215110001477     Document Type: Article

References (9)

1. Nishino I, Spinazzola A, Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 1999;283:689-92
2. Hirano M, Silvestri G, Blake DM, Lombes A, Minetti C, Bonilla E et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. Neurology 1994;44:721-7
3. Zwirner P,Wilichowski E. Progressive sensorineural hearing loss in children with mitochondrial encephalomyopathies. Laryngoscope 2001;111:515-21
4. Elverland HH, Torbergsen T. Audiologic findings in a family with mitochondrial disorder. Am J Otol 1991;12:459-65
5. Sue CM, Lipsett LJ, Crimmins DS, Tsang CS, Boyages SC, Presgrave CM et al. Cochlear origin of hearing loss in MELAS syndrome. Ann Neurol 1998;43:350-9
6. Berkovic SF, Carpenter S, Evans A, Karpati G, Shoubridge EA, Andemann F et al. Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study. Brain 1989;112:1231-60
7. Kaidar-Person O, Golz A, Netzer A, Goldsher D, Joachims HZ, Goldenberg D. Rapidly progressive bilateral sensory neural hearing loss as a presentation of mitochondrial neurogastrointestinal encephalomyopathy. Am J Otolaryngol 2003;24:128-30
8. Warrick PD,Wardrop P, Sim DW. Sensorineural hearing loss in MELAS syndrome. J Laryngol Otol 1997;111:279-81
9. Millar WS, Lignelli A, Hirano M. MRI of five patients with mitochondrial neurogastrointestinal encephalomyopathy. AJR Am J Roentgenol 2004;182:1537-41