Magnetic resonance imaging and spectroscopy of progressive cerebral involvement in Kearns Sayre Syndrome

Kapeller, Peter; Fazekas, Franz; Offenbacher, H.; Stollberger, Rudolf; Schmidt, Reinhold; Berglöff, J.; Radner, H.; Fazekas, G.; Schafhalter-Zoppoth, I.

doi:10.1016/0022-510x(95)00290-i

Cited by 29 publications

(17 citation statements)

References 17 publications

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“…Kearns-Sayre syndrome/Pearson syndrome-In KSS, areas of brain injury similarly demonstrate elevated lactate (Kapeller, 1996;Furuya, 1997). Brain tissue that appears normal may also show elevated lactate levels at rest (Kuwabara, 1994;Furuya, 1997), and demonstrate less of a normal increase in lactate that is normally shown with sustained visual stimulation (Kuwabara, 1994).…”

Section: 22mentioning

confidence: 99%

Neuroimaging of mitochondrial disease

2008

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Section: 22mentioning

confidence: 99%

Neuroimaging of mitochondrial disease

2008

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“…2008). Primary evidence for brain bioenergetic disturbances associated with impaired mitochondrial function, most notably elevation of brain lactate, can be detected with 1 H MRS (Castillo et al 1995;Dager et al 2004;Kapeller et al 1996;Kuwabara et al 1994;Mathews et al 1993). Elevations of brain lactate occur when mitochondrial dysfunction results in a shift in cellular ATP production from oxidative phosphorylation towards anaerobic glycolysis.…”

Section: Introductionmentioning

confidence: 97%

Proton Magnetic Resonance Spectroscopy and MRI Reveal No Evidence for Brain Mitochondrial Dysfunction in Children with Autism Spectrum Disorder

Corrigan

Shaw

Richards

et al. 2011

J Autism Dev Disord

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Brain mitochondrial dysfunction has been proposed as an etiologic factor in autism spectrum disorder (ASD). Proton magnetic resonance spectroscopic imaging ((1)HMRS) and MRI were used to assess for evidence of brain mitochondrial dysfunction in longitudinal samples of children with ASD or developmental delay (DD), and cross-sectionally in typically developing (TD) children at 3-4, 6-7 and 9-10 years-of-age. A total of 239 studies from 130 unique participants (54ASD, 22DD, 54TD) were acquired. (1)HMRS and MRI revealed no evidence for brain mitochondrial dysfunction in the children with ASD. Findings do not support a substantive role for brain mitochondrial abnormalities in the etiology or symptom expression of ASD, nor the widespread use of hyperbaric oxygen treatment that has been advocated on the basis of this proposed relationship.

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“…The most common metabolic abnormalities assessed with 1 H-MRS include a variable degree of NAA signal decrease and accumulation of lactate, and the common conclusion of most of the papers is that lactate peak represents a sensitive metabolic marker of disease (Matthews et al 1993;Kuwabara et al 1994;Castillo et al 1995;Kapeller et al 1996). However, in most of the published cases, spectroscopy was performed in areas of the brain that appeared damaged on MRI.…”

Section: H-mrsmentioning

confidence: 95%

“…The lack of this expected signal abnormality may reflect not only an insufficient brain concentration related to the stage of the disease, but also the failure to probe the proper brain region. In fact, many studies have used single-voxel techniques to evaluate the brain only, avoiding the cerebral spinal fluid (CSF) (Matthews et al 1993;Kuwabara et al 1994;Castillo et al 1995, Kapeller et al 1996. Potentially, this can be a pitfall because the clearance of lactate into the CSF spaces is slower then the clearance of lactate produced by brain tissue (Inao et al 1988).…”

Section: H-mrsmentioning

confidence: 98%

Brain Magnetic Resonance in the Diagnostic Evaluation of Mitochondrial Encephalopathies

et al. 2007

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Brain MR imaging techniques are important ancillary tests in the diagnosis of a suspected mitochondrial encephalopathy since they provide details on brain structural and metabolic abnormalities. This is particularly true in children where non-specific neurologic symptoms are common, biochemical findings can be marginal and genetic defects may be not discovered. MR imaging modalities include conventional, or structural, imaging (MRI) and functional, or ultrastructural, imaging (spectroscopy, MRS; diffusion, DWI-ADC; perfusion, DSCI--ASL). Among them MRI and MRS are the main tools for diagnosis and work up of MD, and this review will focus mainly on them. The MRI findings of MD are very heterogeneous, as they depend on the metabolic brain defects, age of the patient, stage and severity of the disease. No correlation has been found between genetic defects and neuroimaging picture; however, some relationships between MR findings and clinical phenotypes may be identified. Different combinations of MRI signal abnormalities are often encountered but the most common findings may be summarized into three main MR patterns: (i) non-specific; (ii) specific; (iii) leukodystrophic-like. Regarding the functional MR techniques, only proton MRS plays an important role in demonstrating an oxidative metabolism impairment in the brain since it can show the accumulation of lactate, present as a doublet peak at 1.33 ppm. Assessment of lactate should be always performed on brain tissue and on the ventricular cerebral spinal fluid. As for MRI, metabolic MRS abnormalities can be of different types, and two distinct patterns can be recognized: non-specific and specific. The specific metabolic profiles, although not frequent to find, are highly pathognomonic of MD. The un-specific metabolic profiles add value to structural images in allowing to define the lesion load and to monitor the response to therapy trials.

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Magnetic resonance imaging and spectroscopy of progressive cerebral involvement in Kearns Sayre Syndrome

Cited by 29 publications

References 17 publications

Neuroimaging of mitochondrial disease

Neuroimaging of mitochondrial disease

Proton Magnetic Resonance Spectroscopy and MRI Reveal No Evidence for Brain Mitochondrial Dysfunction in Children with Autism Spectrum Disorder

Brain Magnetic Resonance in the Diagnostic Evaluation of Mitochondrial Encephalopathies

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