EXTENSIVE BRAIN CALCIFICATIONS LEUKODYSTROPHY, AND FORMATION OF PARENCHYMAL CYSTS - A NEW PROGRESSIVE DISORDER DUE TO DIFFUSE CEREBRAL MICROANGIOPATHY

A new cerebral disorder, described in three unrelated children, has re cognizable clinical, radiologic, and neuropathologic findings. The ons et occurs from early infancy to adolescence with slowing of cognitive performance, rare convulsive seizures, and a mixture of extrapyramidal , cerebellar, and pyramidal signs. CT shows progressive calcifications in the basal and cerebellar gray nuclei and the central white matter. MRI reveals diffuse abnormal signals of the white matter on T-2-weigh ted sequences. A special feature is the development of parenchymal cys ts in the cerebellum and the supratentorial compartment, leading to co mpressive complications and surgical considerations. Neuropathologic e xamination of surgically removed pericystic samples reveals angiomatou s-like rearrangements of the microvessels, together with degenerative secondary changes of other cellular elements. Both the anatomic findin gs and the course of the disease suggest a constitutional, diffuse cer ebral microangiopathy resulting in microcystic, then macrocystic, pare nchymal degeneration.