Childhood White Matter Disorders: Quantitative MR Imaging and Spectroscopy

Voorn, J. Patrick van der; Pouwels, Petra J. W.; Hart, A. A. M.; Serrarens, Judith; Willemsen, M.A.A.P.; Kremer, H.P.H.; Barkhof, Frederik; Knaap, Marjo S. van der

doi:10.1148/radiol.2412051345

Cited by 79 publications

(66 citation statements)

References 27 publications

(26 reference statements)

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“…Generally, demyelinating disorders showed increased Cho values, while hypomyelinating disorders showed a normal or decreased level, and white matter rarefaction diseases showed decreased values. [14][15][16] Thus, the decreased level of Cho in the white matter in our patients points predominantly to hypomyelination and/or white matter rarefaction, rather than active demyelination, in agreement with our MR imaging findings. The metabolic profile of NAA in gray and white matter suggests a decrease in neuronal and axonal attenuation in all types of CS, and as in PelizaeusMerzbacher disease, this may be related to secondary neuroaxonal degeneration as well.…”

Section: Neuroimaging Diagnosis Of Cssupporting

confidence: 90%

“…The metabolic profile of NAA in gray and white matter suggests a decrease in neuronal and axonal attenuation in all types of CS, and as in PelizaeusMerzbacher disease, this may be related to secondary neuroaxonal degeneration as well. 15 Secondary demyelination and astrogliosis were present in some patients in our cohort and have been previously mentioned in MR imaging and pathology reports of CS cases, [6][7][8][9] as well as in other hypomyelinating disorders such as PelizaeusMerzbacher disease. 17 Brain calcifications were seen in infants as young as 1 year of age in our cohort and from 6 months of age in a previous report.…”

Section: Neuroimaging Diagnosis Of Cssupporting

confidence: 67%

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Neuroimaging In Cockayne Syndrome

Koob¹,

Laugel²,

Durand³

et al. 2010

AJNR Am J Neuroradiol

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SUMMARY:CS is an autosomal recessive multisystem disorder, which is mainly characterized by neurologic and sensory impairment, cachectic dwarfism, and photosensitivity. We describe the neuroimaging features (MR imaging, 1 H-MR spectroscopy, and CT) in the various clinical subtypes of CS from a cohort of genetically and biochemically proved cases. Hypomyelination, calcifications, and brain atrophy were the main imaging features. Calcifications were typically found in the putamen and less often in the cortex and dentate nuclei. Severe progressive atrophy was seen in the supratentorial white matter, the cerebellum, the corpus callosum, and the brain stem. Patients with early-onset disease displayed more severe hypomyelination and prominent calcifications in the sulcal depth of the cerebral cortex, but atrophy was less severe in late-onset patients. On proton MR spectroscopy, lactate was detected and Cho and NAA values were decreased. These combined neuroradiologic findings can help in the differential diagnosis of CS, distinguishing it from other leukoencephalopathies and/or cerebral calcifications in childhood., ABBREVIATIONS: Cho ϭ choline; Cr ϭ creatine; CS ϭ Cockayne syndrome; COFS ϭ cerebro-oculofacio-skeletal syndrome; FLAIR ϭ fluid-attenuated inversion recovery; NAA ϭ N-acetylaspartate

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Section: Neuroimaging Diagnosis Of Cssupporting

confidence: 90%

Section: Neuroimaging Diagnosis Of Cssupporting

confidence: 67%

Neuroimaging In Cockayne Syndrome

Koob¹,

Laugel²,

Durand³

et al. 2010

AJNR Am J Neuroradiol

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“…Another intriguing question concerns the size of the myelin vacuoles. In MLC, ADC values in the aff ected white matter are highly increased, 40 suggesting large vacuoles and increased extracellular spaces, as confi rmed by electron microscopy. 21 In ClC-2-related and connexin-32-related disease, ADC values in aff ected white matter are low, suggesting small intramyelinic vacuoles and extracellular spaces.…”

Section: Discussionmentioning

confidence: 64%

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

Depienne¹,

Bugiani²,

Dupuits³

et al. 2013

The Lancet Neurology

152

204

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SummaryBackground Mutant mouse models suggest that the chloride channel ClC-2 has functions in ion and water homoeostasis, but this has not been confi rmed in human beings. We aimed to defi ne novel disorders characterised by distinct patterns of MRI abnormalities in patients with leukoencephalopathies of unknown origin, and to identify the genes mutated in these disorders. We were specifi cally interested in leukoencephalopathies characterised by white matter oedema, suggesting a defect in ion and water homoeostasis.

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“…One other recently published study has investigated whether single-voxel 1 H-MRSI, combined with other advanced MR imaging techniques, can discriminate among leukoencephalopathies with different pathophysiologies. 17 In that study, total Cr was found to be the best overall discriminant parameter among groups, followed by total choline, magnetization-transfer ratio, myo-inositol, apparent diffusion coefficient, lactate, and total NAA. 17 Our study is in general agreement, in that it shows that 1 H-MRSI is a valuable tool in discriminating among pathophysiology groups.…”

Section: Discussionmentioning

confidence: 83%