DeSanctis-Cacchione syndrome. A case report with autopsy findings.
One of the first patients studied by Cleaver on the DNA repair defect to ultraviolet light damage in xeroderma pigmentosum has been subjected to autopsy examination. This patient had the DeSanctis-Cacchione syndrome (microcephaly, dwarfism, mental deficiency, and choreoathetosis). Her autopsy findings were similar to those of the other three patients with this syndrome, emphasizing olivopontocerebellar atrophy, who underwent autopsy. The patient apparently could not tolerate psoralens because of increased incidence of carcinoma formation.
D000293:Adolescent; D001344:Autopsy; D001921:Brain / Q000002:abnormalities; D002675:Child, Preschool; D004260:DNA Repair; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D013577:Syndrome; D014983:Xeroderma Pigmentosum / Q000235:genetics / Q000473:pathology*