Proton magnetic resonance spectroscopic imaging in the clinical evaluation of patients with Niemann-Pick type C disease

Tedeschi, Gioacchino; Bonavita, Simona; Barton, Norman W.; Bertolino, Alessandro; Frank, J. A.; Patronas, Nicholas J.; Alger, J. R.; Schiffmann, Raphael

doi:10.1136/jnnp.65.1.72

Cited by 50 publications

(29 citation statements)

References 41 publications

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“…Cortical contrast enhancement, as a result of breakdown of the blood-brain barrier or reperfusion hyperemia, and the subcortical hypermetabolic activity on PET/CT, indicate that significant regional hyperemia is present surrounding the stroke-like lesions. MR spectroscopy allows interrogation of tissue metabolites and has proven useful in some hereditary and acquired brain metabolic disorders [25], [26], [27]. The accumulation of lactate, represented by a peak or an inverse peak at 1.3 ppm, is sensitive for MELAS encephalopathy if found in areas that appear normal on imaging, as was seen in our patient [23], [28].…”

Section: Discussionmentioning

confidence: 83%

Migratory stroke-like lesions in a case of adult-onset mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome and a review of imaging findings

Cai

Coelln

Kouo

2016

Radiology Case Reports

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Imaging findings of adult-onset mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is poorly documented. The authors present a 48-year-old woman with subacute onset of word-finding difficulties and right arm stiffness. Magnetic resonance imaging performed 2 weeks prior revealed left temporal lobe diffusion and fluid-attenuated inversion recovery hyperintensity predominantly involving the cortex. The apparent diffusion coefficient map showed preserved signal in the temporal cortex. Subsequent magnetic resonance imagings demonstrated a new diffusion signal abnormality extending to the left parietal cortex and occipital cortex with resolving diffusion hyperintensity in the temporal lobe. MR spectroscopy showed scattered areas of lactate deposition. Diagnosis of MELAS syndrome was confirmed by genetic analysis. Fluctuating, migratory stroke-like lesions with a predilection for the parietal, temporal, and occipital cortex that do not conform to a vascular territory and a lactate spike at 1.3 ppm on MR spectroscopy are characteristic of MELAS syndrome. Preserved signal intensity on apparent diffusion coefficient is useful to distinguish MELAS syndrome from ischemic infarction where the signal is typically reduced.

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Section: Discussionmentioning

confidence: 83%

Migratory stroke-like lesions in a case of adult-onset mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome and a review of imaging findings

Cai

Coelln

Kouo

2016

Radiology Case Reports

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“…Alterations in centrum semiovale N-acetyl cysteine/Cr and choline/Cr levels have been reported in adult patients with NPC by using MR spectroscopy. 37,38 Significant reductions in white matter integrity, including the corpus callosum, have been reported by using DTI in both pediatric and adult patients. 11,39 In animal NPC models, DTI also has demonstrated reductions in white matter integrity in NPC mice compared with wild-type mice.…”

Section: Discussionmentioning

confidence: 99%

Size and Shape of the Corpus Callosum in Adult Niemann-Pick Type C Reflects State and Trait Illness Variables

Walterfang¹,

Fahey²,

Abel³

et al. 2011

AJNR Am J Neuroradiol

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BACKGROUND AND PURPOSE:Variable alterations to the structure of the corpus callosum have been described in adults with NPC, a neurometabolic disorder known to result in both white and gray matter pathology. This study sought to examine the structure of the callosum in a group of adult patients with NPC and compared callosal structure with a group of matched controls, and to relate callosal structure with state and trait illness variables.

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“…3,14 Our previous voxel-based study described reductions in volume in the thalamus, hippocampus, striatum, and cerebellum, 5 though it did not implicate all striatal nuclei. Tedeschi et al 15 described proton MR spectroscopy parameters in 10 (mostly adult) patients compared with controls and showed reduced NAA/creatine ratios in the caudate. Battisti et al 16 described significant frontal cortex, thalamic, and cerebellar hypoperfusion on FDG-PET associated with illness progression.…”

Section: Discussionmentioning

confidence: 99%

Subcortical Volumetric Reductions in Adult Niemann-Pick Disease Type C: A Cross-Sectional Study

Walterfang

Patenaude

Abel³

et al. 2012

AJNR Am J Neuroradiol

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Proton magnetic resonance spectroscopic imaging in the clinical evaluation of patients with Niemann-Pick type C disease

Abstract: Objectives-10 patients with NiemannPick disease type C (NP-C) were studied by proton magnetic resonance spectroscopic imaging ( 1 H-MRSI) to assess the biochemical pathology of the brain and to determine whether this method can be useful to clinically evaluate these patients. Methods-

Cited by 50 publications

References 41 publications

Migratory stroke-like lesions in a case of adult-onset mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome and a review of imaging findings

Migratory stroke-like lesions in a case of adult-onset mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome and a review of imaging findings

Size and Shape of the Corpus Callosum in Adult Niemann-Pick Type C Reflects State and Trait Illness Variables

Subcortical Volumetric Reductions in Adult Niemann-Pick Disease Type C: A Cross-Sectional Study

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