Choroid Plexus Calcification And Mental Retardation

Of the 7 children of parents related as half first cousins, 1 boy died during a convulsion at age 2 months and the other 6, born between 1925 and 1935, had severe mental retardation and extensive calcification of the choroid plexus (Lott et al., 1979). Strabismus, hyperactive deep tendon reflexes, Babinski sign, and lalling speech were other clinical features. ('Lalling speech,' an archaic expression, was used by Friedman and Roy (1944) in first reporting this family.) CSF protein concentration was 2-3 times normal. Neuropathologic studies were done in 1 sib, who died at age 26 years of cardiovascular collapse, possibly due to an abrupt withdrawal of corticosteroids given for bronchial asthma; autopsy showed severe bilateral adrenal atrophy. Small subcortical heterotopias and atrophy of the choroid plexus with encasement by glial fibrils were found. Lott et al. (1979) postulated a hereditary disorder of the choroid plexus. In the 1 patient studied, the choroid plexus failed to take up radiolabeled (99m)Tc-pertechnetate. The only other report of this disorder seems to be that by Singh et al. (1993). Three sibs in a Saudi family had mental retardation, calcification of the choroid plexus, and increased CSF protein.