DeSanctis-Cacchione syndrome. A case report with autopsy findings

Abstract

One of the 1st patients studied by Cleaver on the DNA repair defect to UV light damage in xeroderma pigmentosum was 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 3 patients with this syndrome, emphasizing olivopontocerebellar atrophy, who underwent autopsy. The patient apparently could not tolerate psoralens because of increased incidence of carcinoma formation.