ON NEUROLOGICAL MANIFESTATIONS OF XERODERMA PIGMENTOSUM

Xeroderma pigmentosum is described in four patients including two sisters aged 12 and 26 years, and in two sporadic cases of two females aged 19 and 37 years. In addition to the common cutaneous changes there was a decrease in head circumference, mental retardation, a number of neurological symptoms like pyramidal, extrapyramidal and cerebellar disturbances, dwarfism and gonadal hypoplasia in one case. Other endocrine and metabolic laboratory findings were normal. The pneumencephalography and autopsies, respectively, disclosed cortical and central supratentorial atrophy and in addition cerebellar atrophies in two other patients. One of the two sisters showed a chromosomal anomaly: There were 45 chromosomes due to translocation in group D. Her parents as well as her sister displayed normal chromosome numbers. Among relatives of the two sisters there has been no evidence of xeroderma pigmentosum for the last three generations. The inheritance and the occurrence of xeroderma pigmentosum, its neurological manifestations and theories on its pathogenesis are considered. © 1969 Springer-Verlag.