Skip to main content
Top
Published in: Current Pain and Headache Reports 9/2016

01-09-2016 | Imaging (L Mechtler, Section Editor)

Imaging of MELAS

Authors: Konark Malhotra, David S. Liebeskind

Published in: Current Pain and Headache Reports | Issue 9/2016

Login to get access

Abstract

Mitochondrial diseases are multisystem disorders that frequently involve the central nervous system. The clinical presentation of these disorders may be challenging to differentiate from cerebrovascular disorders. Various imaging techniques are now available that provide a wide range of imaging modalities during initial clinical evaluation and throughout the disease course. Recent technological advancements have introduced advanced neuroimaging modalities that provide detailed information of metabolic disorders at the tissue level. Imaging findings, though diverse, usually have characteristic features that support differentiating these disorders from vascular syndromes. This article provides an overview of various neuroimaging modalities available along with the advent of new imaging techniques being utilized in these disorders.
Literature
1.
go back to reference Pavlakis SG, Phillips PC, DiMauro S, De Vivo DC, Rowland LP. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol. 1984;16(4):481–8. doi:10.1002/ana.410160409.CrossRefPubMed Pavlakis SG, Phillips PC, DiMauro S, De Vivo DC, Rowland LP. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol. 1984;16(4):481–8. doi:10.​1002/​ana.​410160409.CrossRefPubMed
4.
go back to reference Iizuka T, Sakai F. Pathogenesis of stroke-like episodes in MELAS: analysis of neurovascular cellular mechanisms. Curr Neurovasc Res. 2005;2(1):29–45.CrossRefPubMed Iizuka T, Sakai F. Pathogenesis of stroke-like episodes in MELAS: analysis of neurovascular cellular mechanisms. Curr Neurovasc Res. 2005;2(1):29–45.CrossRefPubMed
6.
go back to reference Goto Y, Horai S, Matsuoka T, Koga Y, Nihei K, Kobayashi M, et al. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation. Neurology. 1992;42(3 Pt 1):545–50.CrossRefPubMed Goto Y, Horai S, Matsuoka T, Koga Y, Nihei K, Kobayashi M, et al. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation. Neurology. 1992;42(3 Pt 1):545–50.CrossRefPubMed
7.••
go back to reference Yoshida T, Ouchi A, Miura D, Shimoji K, Kinjo K, Sueyoshi T, et al. MELAS and reversible vasoconstriction of the major cerebral arteries. Int Med (Tokyo, Japan). 2013;52(12):1389–92.CrossRef Yoshida T, Ouchi A, Miura D, Shimoji K, Kinjo K, Sueyoshi T, et al. MELAS and reversible vasoconstriction of the major cerebral arteries. Int Med (Tokyo, Japan). 2013;52(12):1389–92.CrossRef
12.
go back to reference Allard JC, Tilak S, Carter AP. CT and MR of MELAS syndrome. AJNR Am J Neuroradiol. 1988;9(6):1234–8.PubMed Allard JC, Tilak S, Carter AP. CT and MR of MELAS syndrome. AJNR Am J Neuroradiol. 1988;9(6):1234–8.PubMed
18.
19.
go back to reference Kim IO, Kim JH, Kim WS, Hwang YS, Yeon KM, Han MC. Mitochondrial myopathy-encephalopathy-lactic acidosis-and strokelike episodes (MELAS) syndrome: CT and MR findings in seven children. AJR Am J Roentgenol. 1996;166(3):641–5. doi:10.2214/ajr.166.3.8623642.CrossRefPubMed Kim IO, Kim JH, Kim WS, Hwang YS, Yeon KM, Han MC. Mitochondrial myopathy-encephalopathy-lactic acidosis-and strokelike episodes (MELAS) syndrome: CT and MR findings in seven children. AJR Am J Roentgenol. 1996;166(3):641–5. doi:10.​2214/​ajr.​166.​3.​8623642.CrossRefPubMed
21.
go back to reference Hirano M, Pavlakis SG. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts. J Child Neurol. 1994;9(1):4–13.CrossRefPubMed Hirano M, Pavlakis SG. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts. J Child Neurol. 1994;9(1):4–13.CrossRefPubMed
22.
go back to reference Davis PC, Hoffman Jr JC, Braun IF, Ahmann P, Krawiecki N. MR of Leigh’s disease (subacute necrotizing encephalomyelopathy). AJNR Am J Neuroradiol. 1987;8(1):71–5.PubMed Davis PC, Hoffman Jr JC, Braun IF, Ahmann P, Krawiecki N. MR of Leigh’s disease (subacute necrotizing encephalomyelopathy). AJNR Am J Neuroradiol. 1987;8(1):71–5.PubMed
23.
go back to reference Goodfellow JA, Dani K, Stewart W, Santosh C, McLean J, Mulhern S, et al. Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes: an important cause of stroke in young people. Postgrad Med J. 2012;88(1040):326–34. doi:10.1136/postgradmedj-2011-130326.CrossRefPubMed Goodfellow JA, Dani K, Stewart W, Santosh C, McLean J, Mulhern S, et al. Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes: an important cause of stroke in young people. Postgrad Med J. 2012;88(1040):326–34. doi:10.​1136/​postgradmedj-2011-130326.CrossRefPubMed
24.
25.
28.
go back to reference Yoneda M, Maeda M, Kimura H, Fujii A, Katayama K, Kuriyama M. Vasogenic edema on MELAS: a serial study with diffusion-weighted MR imaging. Neurology. 1999;53(9):2182–4.CrossRefPubMed Yoneda M, Maeda M, Kimura H, Fujii A, Katayama K, Kuriyama M. Vasogenic edema on MELAS: a serial study with diffusion-weighted MR imaging. Neurology. 1999;53(9):2182–4.CrossRefPubMed
29.
go back to reference Jian-Ren L. Precipitation of stroke-like event by chickenpox in a child with MELAS syndrome. Neurol India. 2005;53(3):323–5.CrossRefPubMed Jian-Ren L. Precipitation of stroke-like event by chickenpox in a child with MELAS syndrome. Neurol India. 2005;53(3):323–5.CrossRefPubMed
30.
go back to reference Yonemura K, Hasegawa Y, Kimura K, Minematsu K, Yamaguchi T. Diffusion-weighted MR imaging in a case of mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. AJNR Am J Neuroradiol. 2001;22(2):269–72.PubMed Yonemura K, Hasegawa Y, Kimura K, Minematsu K, Yamaguchi T. Diffusion-weighted MR imaging in a case of mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. AJNR Am J Neuroradiol. 2001;22(2):269–72.PubMed
33.
go back to reference Chinnery PF. Mitochondrial Disorders Overview. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, editors. GeneReviews(R). Seattle (WA): University of Washington, Seattle; 1993. All rights reserved. Chinnery PF. Mitochondrial Disorders Overview. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, editors. GeneReviews(R). Seattle (WA): University of Washington, Seattle; 1993. All rights reserved.
36.
go back to reference Wilichowski E, Pouwels PJ, Frahm J, Hanefeld F. Quantitative proton magnetic resonance spectroscopy of cerebral metabolic disturbances in patients with MELAS. Neuropediatrics. 1999;30(5):256–63. doi:10.1055/s-2007-973500.CrossRefPubMed Wilichowski E, Pouwels PJ, Frahm J, Hanefeld F. Quantitative proton magnetic resonance spectroscopy of cerebral metabolic disturbances in patients with MELAS. Neuropediatrics. 1999;30(5):256–63. doi:10.​1055/​s-2007-973500.CrossRefPubMed
38.
go back to reference Osborn AG, Salzman KL, Jhaveri MD, Barkovich AJ. Diagnostic imaging: brain. Elsevier Health Sciences; 2015 Osborn AG, Salzman KL, Jhaveri MD, Barkovich AJ. Diagnostic imaging: brain. Elsevier Health Sciences; 2015
39.
go back to reference Abe K, Yoshimura H, Tanaka H, Fujita N, Hikita T, Sakoda S. Comparison of conventional and diffusion-weighted MRI and proton MR spectroscopy in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like events. Neuroradiology. 2004;46(2):113–7. doi:10.1007/s00234-003-1138-2.CrossRefPubMed Abe K, Yoshimura H, Tanaka H, Fujita N, Hikita T, Sakoda S. Comparison of conventional and diffusion-weighted MRI and proton MR spectroscopy in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like events. Neuroradiology. 2004;46(2):113–7. doi:10.​1007/​s00234-003-1138-2.CrossRefPubMed
42.
go back to reference Virtanen SM, Lindroos MM, Majamaa K, Nuutila P, Borra RJ, Parkkola R. Voxelwise analysis of diffusion tensor imaging and structural MR imaging in patients with the m.3243A>G mutation in mitochondrial DNA. AJNR Am J Neuroradiol. 2011;32(3):522–6. doi:10.3174/ajnr.A2309.CrossRefPubMed Virtanen SM, Lindroos MM, Majamaa K, Nuutila P, Borra RJ, Parkkola R. Voxelwise analysis of diffusion tensor imaging and structural MR imaging in patients with the m.3243A>G mutation in mitochondrial DNA. AJNR Am J Neuroradiol. 2011;32(3):522–6. doi:10.​3174/​ajnr.​A2309.CrossRefPubMed
45.
go back to reference Ooiwa Y, Uematsu Y, Terada T, Nakai K, Itakura T, Komai N, et al. Cerebral blood flow in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Stroke. 1993;24(2):304–9.CrossRefPubMed Ooiwa Y, Uematsu Y, Terada T, Nakai K, Itakura T, Komai N, et al. Cerebral blood flow in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Stroke. 1993;24(2):304–9.CrossRefPubMed
46.
go back to reference Molnar MJ, Valikovics A, Molnar S, Tron L, Dioszeghy P, Mechler F, et al. Cerebral blood flow and glucose metabolism in mitochondrial disorders. Neurology. 2000;55(4):544–8.CrossRefPubMed Molnar MJ, Valikovics A, Molnar S, Tron L, Dioszeghy P, Mechler F, et al. Cerebral blood flow and glucose metabolism in mitochondrial disorders. Neurology. 2000;55(4):544–8.CrossRefPubMed
49.
52.
go back to reference Iizuka T, Sakai F, Kan S, Suzuki N. Slowly progressive spread of the stroke-like lesions in MELAS. Neurology. 2003;61(9):1238–44.CrossRefPubMed Iizuka T, Sakai F, Kan S, Suzuki N. Slowly progressive spread of the stroke-like lesions in MELAS. Neurology. 2003;61(9):1238–44.CrossRefPubMed
54.
go back to reference Ikawa M, Yoneda M, Muramatsu T, Matsunaga A, Tsujikawa T, Yamamoto T, et al. Detection of preclinically latent hyperperfusion due to stroke-like episodes by arterial spin-labeling perfusion MRI in MELAS patients. Mitochondrion. 2013;13(6):676–80. doi:10.1016/j.mito.2013.09.007.CrossRefPubMed Ikawa M, Yoneda M, Muramatsu T, Matsunaga A, Tsujikawa T, Yamamoto T, et al. Detection of preclinically latent hyperperfusion due to stroke-like episodes by arterial spin-labeling perfusion MRI in MELAS patients. Mitochondrion. 2013;13(6):676–80. doi:10.​1016/​j.​mito.​2013.​09.​007.CrossRefPubMed
56.
go back to reference Majoie CB, Akkerman EM, Blank C, Barth PG, Poll-The BT, den Heeten GJ. Mitochondrial encephalomyopathy: comparison of conventional MR imaging with diffusion-weighted and diffusion tensor imaging: case report. AJNR Am J Neuroradiol. 2002;23(5):813–6.PubMed Majoie CB, Akkerman EM, Blank C, Barth PG, Poll-The BT, den Heeten GJ. Mitochondrial encephalomyopathy: comparison of conventional MR imaging with diffusion-weighted and diffusion tensor imaging: case report. AJNR Am J Neuroradiol. 2002;23(5):813–6.PubMed
58.
go back to reference De Volder A, Ghilain S, de Barsy T, Goffinet AM. Brain metabolism in mitochondrial encephalomyopathy: a PET study. J Comput Assist Tomogr. 1988;12(5):854–7.CrossRefPubMed De Volder A, Ghilain S, de Barsy T, Goffinet AM. Brain metabolism in mitochondrial encephalomyopathy: a PET study. J Comput Assist Tomogr. 1988;12(5):854–7.CrossRefPubMed
61.
go back to reference Kodaka R, Itagaki Y, Matsumoto M, Nagai T, Okada S. A transcranial doppler ultrasonography study of cerebrovascular CO2 reactivity in mitochondrial encephalomyopathy. Stroke. 1996;27(8):1350–3.CrossRefPubMed Kodaka R, Itagaki Y, Matsumoto M, Nagai T, Okada S. A transcranial doppler ultrasonography study of cerebrovascular CO2 reactivity in mitochondrial encephalomyopathy. Stroke. 1996;27(8):1350–3.CrossRefPubMed
62.
go back to reference Ganslandt O, Steinmeier R, Kober H, Vieth J, Kassubek J, Romstock J, et al. Magnetic source imaging combined with image-guided frameless stereotaxy: a new method in surgery around the motor strip. Neurosurgery. 1997;41(3):621–7. discussion 7–8. Ganslandt O, Steinmeier R, Kober H, Vieth J, Kassubek J, Romstock J, et al. Magnetic source imaging combined with image-guided frameless stereotaxy: a new method in surgery around the motor strip. Neurosurgery. 1997;41(3):621–7. discussion 7–8.
63.
go back to reference Rossini PM, Tecchio F, Pizzella V, Lupoi D, Cassetta E, Pasqualetti P, et al. On the reorganization of sensory hand areas after mono-hemispheric lesion: a functional (MEG)/anatomical (MRI) integrative study. Brain Res. 1998;782(1–2):153–66.CrossRefPubMed Rossini PM, Tecchio F, Pizzella V, Lupoi D, Cassetta E, Pasqualetti P, et al. On the reorganization of sensory hand areas after mono-hemispheric lesion: a functional (MEG)/anatomical (MRI) integrative study. Brain Res. 1998;782(1–2):153–66.CrossRefPubMed
64.
go back to reference Kamada K, Takeuchi F, Houkin K, Kitagawa M, Kuriki S, Ogata A, et al. Reversible brain dysfunction in MELAS: MEG, and (1)H MRS analysis. J Neurol Neurosurg Psychiatry. 2001;70(5):675–8.CrossRefPubMedPubMedCentral Kamada K, Takeuchi F, Houkin K, Kitagawa M, Kuriki S, Ogata A, et al. Reversible brain dysfunction in MELAS: MEG, and (1)H MRS analysis. J Neurol Neurosurg Psychiatry. 2001;70(5):675–8.CrossRefPubMedPubMedCentral
65.••
68.
Metadata
Title
Imaging of MELAS
Authors
Konark Malhotra
David S. Liebeskind
Publication date
01-09-2016
Publisher
Springer US
Published in
Current Pain and Headache Reports / Issue 9/2016
Print ISSN: 1531-3433
Electronic ISSN: 1534-3081
DOI
https://doi.org/10.1007/s11916-016-0583-7

Other articles of this Issue 9/2016

Current Pain and Headache Reports 9/2016 Go to the issue

Imaging (L Mechtler, Section Editor)

Neuroimaging in the Diagnostic Evaluation of Eye Pain

Anesthetic Techniques in Pain Management (D Wang, Section Editor)

Evaluation and Management of SCI-Associated Pain

Concussion and Head Injury (T Seifert, Section Editor)

Neurosurgical Emergencies in Sports Neurology

Psychological and Behavioral Aspects of Headache and Pain (D Buse, Section Editor)

Opioid Treatment of Migraine: Risk Factors and Behavioral Issues