A slowly progressive degenerative condition characterized by mental deficiency, wasting of limb musculature and bone abnormalities, including ossification of the pinnae

Abstract

A condition is described in a 33-year-old Caucasian male in which there is severe mental deficiency present from an early age. There is non-progressive hydrocephaly and the eye findings include posterior polar cataracts. There is slowly progressive muscle wasting of the limbs along with degenerative bone changes. Ossification has occurred in the pinnae. Secondary sexual characteristics are underdeveloped and there is a low normal serum testosterone. The parents are not related and there is no similar occurrence in the family. Biochemical investigations do not show any abnormality, and the chromosome picture is that of a normal male karyotype. The case appears to be unique.