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Fatal CNS dysgenesis with severe microencephaly, mental retardation, seizures and paucity of myelin, autosomal recessive trait? by Gerhard Neuhuser; Gabriele M. ZuRhein; Elisabeth G. Kaveggia; John M. Opitz is a Medicine article available to read on EtoBox.

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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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Author

Gerhard Neuhuser; Gabriele M. ZuRhein; Elisabeth G. Kaveggia; John M. Opitz

Publisher

Springer; Springer-Verlag; Springer Verlag; Springer Science and Business Media LLC; Society for Mining, Metallurgy and Exploration Inc. (ISSN 0340-6997)

Published

1977

Language

EN

Field

Medicine (Health Sciences)