INFANTILE PROGRESSIVE STRIATO-THALAMIC DEGENERATION IN 2 SIBLINGS - ANEW SYNDROME

The clinical features, neuroimaging, and neuropathologic findings of a new syndrome, characterized by onset in early infancy, progressive co urse, choreiform movements, hypotonia, and dysphagia, are described in 2 siblings originating from a consanguineous marriage, The serial neu roimaging studies indicated progressive loss of volume of both caudate nuclei and change in signal intensity in putamina, Pathologically, th ere was severe neuronal loss and gliosis in the striatum and thalamus, This pathologic pattern in association with clinical and radiologic c orrelates, to our knowledge, has not been previously described, It app ears that this syndrome is an autosomal recessive disorder.