American Journal of Neuroradiology, Vol 16, Issue 5 1167-1173, Copyright © 1995 by American Society of Neuroradiology
ARTICLES |
MR of the brain in mitochondrial myopathy
SH Wray, JM Provenzale, DR Johns and KR Thulborn
Department of Neurology, Massachusetts General Hospital, Boston, USA.
PURPOSE: To determine the spectrum of MR findings in patients with mitochondrial myopathy and correlate them with central nervous system symptoms and signs. METHODS: We performed a prospective evaluation of the MR findings of eight patients with mitochondrial myopathy (three with Kearns-Sayre syndrome and five with chronic progressive external ophthalmoplegia), six of whom had central nervous system symptoms or signs (ataxia, sensorineural hearing loss, or cognitive dysfunction). RESULTS: All six patients with neurologic symptoms or signs had multiple abnormal MR findings, whereas patients without neurologic symptoms had either normal MR findings (one patient) or the solitary finding of cortical atrophy (one patient). Abnormal MR findings consisted of cerebral cortical atrophy (seven patients), cerebellar atrophy (six patients), and hyperintense signal abnormalities on T2- weighted images within the cerebral white matter (three patients), cerebellar white matter (one patient), basal ganglia (three patients), brain stem (one patient), and thalamus (one patient). In two patients, the cerebral white matter signal abnormalities were primarily peripheral and involved the arcuate fibers. All patients with ataxia had abnormal cerebellar findings on MR imaging, but there was poor correlation between other neurologic features and MR findings. CONCLUSIONS: Cerebral and cerebellar atrophy are the most common MR findings in Kearns-Sayre syndrome and chronic progressive external ophthalmoplegia. White matter and deep gray nuclei abnormalities, presumed to result from the diffuse spongiform encephalopathy reported in these patients, can also be seen. Patients with abnormal neurologic findings typically have multiple abnormalities on MR imaging, which frequently do not correlate with specific symptoms.
This article has been cited by other articles:
 |
|
 |
|
  R. H. Haas, S. Parikh, M. J. Falk, R. P. Saneto, N. I. Wolf, N. Darin, and B. H. Cohen Mitochondrial Disease: A Practical Approach for Primary Care Physicians Pediatrics, December 1, 2007; 120(6): 1326 - 1333. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 Y. Sakai, R. Kira, H. Torisu, K. Ihara, T. Yoshiura, and T. Hara Persistent diffusion abnormalities in the brain stem of three children with mitochondrial diseases. AJNR Am. J. Neuroradiol., October 1, 2006; 27(9): 1924 - 1926. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. O. Heidenreich, T. Klopstock, T. Schirmer, P. Saemann, W. Mueller-Felber, and D. P. Auer Chronic progressive external ophthalmoplegia: MR spectroscopy and MR diffusion studies in the brain. Am. J. Roentgenol., September 1, 2006; 187(3): 820 - 824. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. D'Arrigo, L. Vigano, M. G. Bruzzone, M. Marzaroli, I. Nikas, D. Riva, and C. Pantaleoni Diagnostic Approach to Cerebellar Disease in Children J Child Neurol, November 1, 2005; 20(11): 859 - 866. [Abstract] [PDF]
|
|
|
|
 |
|
 H. M. Barragan-Campos, J.-N. Vallee, D. Lo, C. F. Barrera-Ramirez, M. Argote-Greene, J. Sanchez-Guerrero, B. Estanol, R. Guillevin, and J. Chiras Brain Magnetic Resonance Imaging Findings in Patients With Mitochondrial Cytopathies Arch Neurol, May 1, 2005; 62(5): 737 - 742. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. C. Bianchi, M. Tosetti, R. Battini, M. L. Manca, M. Mancuso, G. Cioni, R. Canapicchi, and G. Siciliano Proton MR Spectroscopy of Mitochondrial Diseases: Analysis of Brain Metabolic Abnormalities and Their Possible Diagnostic Relevance AJNR Am. J. Neuroradiol., November 1, 2003; 24(10): 1958 - 1966. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
P. B. Kang, J. V. Hunter, J. J. Melvin, M. A. Selak, E. N. Faerber, and E. M. Kaye Infantile Leukoencephalopathy Owing to Mitochondrial Enzyme Dysfunction J Child Neurol, June 1, 2002; 17(6): 421 - 428. [Abstract] [PDF]
|
|
|
|
 |
|
 M. Rantamaki, R. Krahe, A. Paetau, B. Cormand, I. Mononen, and B. Udd Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family Neurology, September 25, 2001; 57(6): 1043 - 1049. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 P. F Chinnery, N. Howell, R. M Andrews, and D. M Turnbull Clinical mitochondrial genetics J. Med. Genet., June 1, 1999; 36(6): 425 - 436. [Abstract] [Full Text]
|
|