Abstract
Siblings are reported with severe mental retardation, spastic cerebral palsy and seizures; in addition they had progressive or intermittent jaundice and recurrent infections; they died at 3 and 4 years respectively. Neuropathological studies in one showed a small brain with an almost complete lack of myelin in cerebral white matter, brain stem, cerebellum and anterolateral parts of the spinal cord. The condition most likely represents a dysgenesis of myelin (dysmyelination), possibly due to an inability of oligodendrocytes to form myelin and/or metabolic defects in the process of myelination. This mental retardation condition is probably inherited as an autosomal recessive trait and may represent a special type of a primary CNS developmental defect.
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Supported, in part, by a Grant from the Brittingham Foundation and by USPH/NIH Grant GM 20 130. Paper No. 1961 from the University of Wisconsin Genetics Laboratory
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Neuhäuser, G., ZuRhein, G.M., Kaveggia, E.G. et al. Fatal CNS dysgenesis with severe microencephaly, mental retardation, seizures and paucity of myelin, autosomal recessive trait?. Eur J Pediatr 124, 185–198 (1977). https://doi.org/10.1007/BF00452110
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DOI: https://doi.org/10.1007/BF00452110