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Neuroimaging in Cockayne Syndrome
AJNR 31:1623-1630, Koob,M.,et al, 2010
See this aricle in Pubmed

Article Abstract
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, 1H-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.
 
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basal ganglia,calcification of
basal ganglia,lesion,bilateral
brain atrophy
brainstem,atrophy
cachexia
calcification,gyral
calcification,intracranial
children
Cockayne's syndrome
corpus callosotomy
dentate nuclei,lesion of
dwarfism
hypomyelination
leukoencephalopathy
MRI
MRI,abnormal
MRS
photosensitivity,skin
putamen,lesion of
putamen,lesion of,bilateral
white matter disease

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