Article

Neuroimaging of mitochondrial disease.

Division of Pediatric Neurology, Children's Hospital and Regional Medical Center/University of Washington, 4800 Sand Point Way NE, Seattle, WA 98105, USA.
Mitochondrion (Impact Factor: 3.52). 06/2008; 8(5-6):396-413. DOI: 10.1016/j.mito.2008.05.003
Source: PubMed

ABSTRACT Mitochondrial disease represents a heterogeneous group of genetic disorders that require a variety of diagnostic tests for proper determination. Neuroimaging may play a significant role in diagnosis. The various modalities of nuclear magnetic resonance imaging (MRI) allow for multiple independent detection procedures that can give important anatomical and metabolic clues for diagnosis. The non-invasive nature of neuroimaging also allows for longitudinal studies. To date, no pathonmonic correlation between specific genetic defect and neuroimaging findings have been described. However, certain neuroimaging results can give important clues that a patient may have a mitochondrial disease. Conventional MRI may show deep gray structural abnormalities or stroke-like lesions that do not respect vascular territories. Chemical techniques such as proton magnetic resonance spectroscopy (MRS) may demonstrate high levels of lactate or succinate. When found, these results are suggestive of a mitochondrial disease. MRI and MRS studies may also show non-specific findings such as delayed myelination or non-specific leukodystrophy picture. However, in the context of other biochemical, structural, and clinical findings, even non-specific findings may support further diagnostic testing for potential mitochondrial disease. Once a diagnosis has been established, these non-invasive tools can also aid in following disease progression and evaluate the effects of therapeutic interventions.

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    • "Since then, the diagnosis of Leigh syndrome has been based on symmetrical lesions in one or more areas of the central nervous system, including the basal ganglia, diencephalon, brainstem, cerebellum and spinal cord, on either post mortem examination or on neuroimaging [3,4]. Typically, the affected areas appear hypodense on computed tomography (CT) and show hyperintense signal on T2-weighted and hypointense signal on T1-weighted magnetic resonance imaging (MRI) [5,6]. "
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    Orphanet Journal of Rare Diseases 04/2014; 9(1):52. DOI:10.1186/1750-1172-9-52 · 3.96 Impact Factor
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    • "With the exception of inferior olivary lesions, however, brainstem lesions are rare in POLG associated encephalopathy. The combination of brainstem and thalamic lesions may occur in Leigh disease, but here the brainstem changes affect primarily gray matter structures such as the substantia nigra, subthalamic and red nuclei and not white matter tracts [32]. "
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    Orphanet Journal of Rare Diseases 01/2013; 8(1):1. DOI:10.1186/1750-1172-8-1 · 3.96 Impact Factor
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    • "Leigh syndrome is usually a devastating neurodegenerative disease (also called subacute necrotizing encephalopathy) that presents mostly in infancy. From a neuroradiological perspective, it consists of almost identical lesions in the central nervous system, e.g., focal, bilaterally symmetrical lesions, particularly in the basal ganglia, thalamus, and brainstem [7] [8]. The clinical presentation of Leigh syndrome is highly variable with considerable heterogeneity and is characterized by a wide variety of clinical features. "
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