%0 Journal Article %1 Neuhaeuser1977 %A Neuh?user, G. %A ZuRhein, G. M. %A Kaveggia, E. G. %A Opitz, J. M. %D 1977 %J Eur J Pediatr %K Brain; Cerebral Palsy; Child, Preschool; Female; Humans; Jaundice; Male; Mental Retardation; Myelin Proteins; Seizures %N 3 %P 185--198 %T Fatal CNS dysgenesis with severe microencephaly, mental retardation, seizures and paucity of myelin, autosomal recessive trait? %V 124 %X 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.

@article{Neuhaeuser1977, 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.}, added-at = {2014-07-19T20:54:22.000+0200}, author = {Neuh?user, G. and ZuRhein, G. M. and Kaveggia, E. G. and Opitz, J. M.}, biburl = {https://www.bibsonomy.org/bibtex/2586ced8aef9e1405aec1239139f4c961/ar0berts}, groups = {public}, interhash = {660d92e3b1112025872df143bd7e1123}, intrahash = {586ced8aef9e1405aec1239139f4c961}, journal = {Eur J Pediatr}, keywords = {Brain; Cerebral Palsy; Child, Preschool; Female; Humans; Jaundice; Male; Mental Retardation; Myelin Proteins; Seizures}, month = Feb, number = 3, pages = {185--198}, pmid = {837946}, timestamp = {2014-07-19T20:54:22.000+0200}, title = {Fatal CNS dysgenesis with severe microencephaly, mental retardation, seizures and paucity of myelin, autosomal recessive trait?}, username = {ar0berts}, volume = 124, year = 1977 }