FAMILIAL HOLOTOPISTIC STRIATAL NECROSIS

Five cases of a rare neurological disorder occurring in two families are described. Clinically these cases showed: 1. onset in childhood, 2. no known history of episodes of anoxia or intoxication, 3. awkward gait, 4. stiffness or flaccidity of the limbs, athetotic movements and Foerster's signs, 5. dysarthria and dysphagia, 6. mental retardation, 7. duration of 8 months to 13 years. Pathologically, the three autopsy cases showed very similar features: bilaterally symmetrical necrosis of the caudate nucleus and putamen. These nuclei were involved from the most rostral part to the caudal end. The lesions were strictly confined to almost all the areas within the boundaries of the caudate nucleus and putamen, the intervening portions of the internal capsule being intact. Exceptionally in one case, the anteromedio-ventral part of the head of the striatum, which was considered to be supplied by the anterior cerebral artery, was spared from necrosis. The necrotizing lesions contained well-developed coarse scar formation consisting of gliomesenchymal fibers and progressively reacting astrocytes and microglial cells. The pathogenesis of this peculiar type of striatal necrosis is discussed briefly. © 1969 Springer-Verlag.