Generalized infantile neuroaxonal dystrophies with pigmentation and lipophanerosis of the pallidum in concordant twins.

Abstract

Monozygotic male twins died at the age of 6.5 and 7.5 yr, respectively, after a progressive course of mental deterioration, hypotonia, spasticity, optic atrophy and seizures that commenced at the age of 2 yr. Both patients showed generalized neuroaxonal dystrophy (NAD) marked by numerous spheroids, Fe-positive pigment and lipophanerosis of the pallidum. NAD can be classified as a generalized form without pigmentation of the pallidum (infantile type of Seitelberger), a juvenile type of Rozdilsky, a generalized form with pigmentation (cases described here) and localized forms (infantile, late infantile, juvenile = classic Hallervorden-Spatz disease, adult types).