Schimke X-Linked Mental Retardation Syndrome

Schimke et al. (1984) reported 4 boys (3 in 1 family) with a remarkably consistent syndrome of childhood-onset choreoathetosis with later spasticity, postnatal microcephaly, growth and mental retardation, apparent external ophthalmoplegia, and varying degrees of deafness. Copper, ceruloplasmin (117700), and uric acid levels in serum were normal. The familial cases occurred in 2 maternal cousins and a maternal uncle of theirs. Assays of hypoxanthine-guanine phosphoribosyl transferase were not reported.