MRI in Cockayne syndrome type I.
MRI findings are reported from two patients with Cockayne syndrome (CS) type I, aged 11 and 37 years. Changes were compatible with diffuse white matter hypomyelination. Basal ganglia calcification was present in both, marked cerebellar atrophy in the older patient. MRI may support the diagnosis of CS in the appropriate clinical context. The view that CS is a dysmyelinating disorder is further substantiated.
Boltshauser
E
E
Children's University Hospital, Zurich, Switzerland.
Yalcinkaya
C
C
Wichmann
W
W
Reutter
F
F
Prader
A
A
Valavanis
A
A
D000328:Adult; D001921:Brain / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D002648:Child; D003057:Cockayne Syndrome / Q000145:classification / Q000175:diagnosis*; D004392:Dwarfism / Q000175:diagnosis*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging