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Leukoencephalopathy among native Indian infants in northern Quebec and Manitoba
D N Black1, F Booth, G V Watters
1Department of Neurogenetics, Montreal Neurological Institute, Quebec.
Insights
A severe familial leukoencephalopathy affects Native North American infants, causing neurological decline and death. The condition is characterized by white matter abnormalities and may have an autosomal recessive inheritance pattern.
Area of Science:
- Neurology
- Pediatrics
- Genetics
Background:
- Familial leukoencephalopathies are rare genetic disorders affecting brain white matter.
- Previous reports have not described this specific severe form in Native North American infants.
Purpose of the Study:
- To describe a severe familial leukoencephalopathy observed in 14 infants from northern Quebec and Manitoba.
- To characterize the clinical, radiological, and pathological features of this novel neurological disorder.
Main Methods:
- Case series reporting on 14 affected infants.
- Clinical observation and neurological examination.
- Radiological imaging (MRI) and neuropathological examination.
Main Results:
- Affected infants presented with hypotonia, motor delay, seizures, and abnormal posture around 6 months of age.
- Radiological hallmarks include symmetrical hemispheric white matter lucencies and diffuse hypomyelination.
- The disease progressed to a rigid, vegetative state, often with autonomic disturbances and blindness, leading to death.
Conclusions:
- This severe familial leukoencephalopathy is distinct from known cerebral myelin diseases.
- An autosomal recessive inheritance pattern is suspected but requires further statistical confirmation.
- The proposed etiology involves delayed development or abnormal turnover of central nervous system myelin.
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 febrile illness around 6 months of age. Death follows a rigid, vegetative state that manifests days to months after disease onset and is marked 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 hallmarks. 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 turnover of central nervous system myelin.