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Infantile familial encephalopathy with cerebral calcifications and leukodystrophy.

Two sets of siblings, in two different families, presenting with congenital and progressive neurological disorders, cerebral calcifications and leukodystrophy are reported. In the first family, the diagnosis of brain calcifications in two infants was based on skull X-rays; in the second family, ultrasound scans showed hyperechoic areas in the basal ganglia and periventricular white matter in both infants. Neuropathological studies confirmed the calcifications and revealed severe abnormalities of the white matter with GFAP positive gliosis. Electron micrographs showed large astrocytes with an increased amount of glial filaments. In the group of idiopathic non arteriosclerotic cerebral calcifications, these four cases may represent a separate entity with possible autosomal recessive inheritance.