A Golgi study of the brain malformation in Zellweger's cerebro-hepato-renal disease.

Characteristic neuronal heterotopias in two cases of Zellweger's cerebro-hepato-renal disease were studied with the Golgi method. In the corona radiata, heterotopias consist of large fields of small or medium-sized radial pyramids, and of dense clusters containing larger, randomly oriented pyramidal cells and multipolar neurons, some of which resemble granule cells. The latter type of heterotopia could result from a focal destructive process at a relatively early stage of neuronal migration. In the cerebellar white matter, heterotopic masses contain Purkinje cells and possibly Golgi neurons but no granule or basket cells. The mispositioned Purkinje cells resemble the subcortical and intragranular Purkinje cells of the reeler mutant mouse and those of the weaver mutant. The morphology of neurons in the abnormally convoluted olivary nucleus is normal.