RT Journal Article
SR Electronic
T1 Neuroimaging In Cockayne Syndrome
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 1623
OP 1630
DO 10.3174/ajnr.A2135
VO 31
IS 9
A1 Koob, M.
A1 Laugel, V.
A1 Durand, M.
A1 Fothergill, H.
A1 Dalloz, C.
A1 Sauvanaud, F.
A1 Dollfus, H.
A1 Namer, I.J.
A1 Dietemann, J.-L.
YR 2010
UL http://www.ajnr.org/content/31/9/1623.abstract
AB 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.' ChocholineCrcreatineCSCockayne syndromeCOFScerebro-oculo-facio-skeletal syndromeFLAIRfluid-attenuated inversion recoveryNAAN-acetylaspartate