Cranial computed tomography findings in xeroderma pigmentosum with neurologic manifestations (De Sanctis-Cacchione syndrome).
Computed tomography (CT) scans in two young patients with xeroderma pigmentosum with neurologic manifestations (De Sanctis-Cacchione syndrome) showed ventricular dilatation and cerebral cortical atrophy. The brainstem appeared small. In addition, an abnormal thickening of the calvarial bones was noted in both patients. These CT findings of the brain were compared with the neuropathologic features of this syndrome reported in the literature.
D000293:Adolescent; D001284:Atrophy; D001921:Brain / Q000000981:diagnostic imaging* / Q000473:pathology; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000000981:diagnostic imaging*; D008297:Male; D009422:Nervous System Diseases / Q000000981:diagnostic imaging*; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D014983:Xeroderma Pigmentosum / Q000000981:diagnostic imaging*