MRI in the diagnosis of Cockayne's syndrome. One case.
Computerized tomography (CT) and magnetic resonance imaging (RMI) showed cortico-subcortical atrophy as well as calcification of the basal ganglia and the cerebellar dentate nuclei in a patient presenting with cerebellar syndrome. RMI was particularly useful in imaging the demyelination of the periventricular white matter and the subcortical U fibres. A diagnosis of Cockayne's syndrome was made. This is an extremely rare hereditary disease of unknown pathogenesis. Defective recovery of DNA synthesis has been suggested.
Demaerel
P
P
Service de Radiologie, Universitaire Ziekenhuizen K.U. Leuven, Belgique.
Wilms
G
G
Verdru
P
P
Carton
H
H
Baert
A L
AL
D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D003057:Cockayne Syndrome / Q000175:diagnosis* / Q000000981:diagnostic imaging; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D014057:Tomography, X-Ray Computed