[Four cases of Cockayne syndrome]

Abstract

The evaluation of four patients with Cockayne syndrome (CS) by computed tomography (CT) and magnetic resonance imaging (MRI) is reported. All patients had characteristic clinical manifestations of CS. In a special respect, we found hyperopia in two patients and previous habitual abortions in two maternal histories. Extrapyramidal signs were seen in one patient. Three patients are type 1 CS (case 1, 3, 4) and one patient (case 2) is type 2 CS (congenital form). The cranial CT in two patients (case 1, 2) revealed prominent calcifications in basal ganglia, dentate nucleus and hemispheric white matter. While CT showed vagal calcifications in basal ganglia in other two patients (case 3, 4), T2-weighted MRI revealed obvious low intensity area in putamen and caudate nucleus, and high intensity area in the white matter. Sagittal section revealed atrophic changes of cerebellar vermis and brain stem. Thus it seems that MRI may be useful diagnostic adjunct in CS patients.