Leukoencephalopathy among native indian infants in northern Quebec and Manitoba

Abstract

We report 14 cases of a severe familial leukoencephalopathy among native North American Indian infants in northern Quebec and Manitoba. Affected infants have hypotonia and mild motor delay, followed by seizures, hypotonia or spasticity, eye deviation, and abnormal posture during a Februaryrile illness around 6 months of age. Death follows a rigid, vegetative state that manifests days to months after disease onset and is Marchked in some cases by prominent autonomic disturbances, blindness, and cessation of head growth. Symmetrical hemispheric white matter lucencies and diffuse hypomyelination of the cerebral hemispheres and brainstem are the radiological and pathological hallMarchks. This disease differs from the known diseases of cerebral myelin. An autosomal recessive pattern of inheritance awaits statistical confirmation. The proposed cause is a delay in development or abnormal turNovemberer of central nervous system myelin.