Novotny E J
Department of Neurology, Stanford University Medical School, CA 94305.
Neuropediatrics. 1988 Nov;19(4):221-3. doi: 10.1055/s-2008-1052451.
A newborn with multiple congenital contractures (MCC) or arthrogryposis multiplex congenita and a leukodystrophy is described. The clinical features and neurophysiological studies suggested a disorder primarily involving the central white matter. The diagnosis of connatal Pelizaeus-Merzbacher disease was made post mortem. This disorder of myelin formation should be considered in infants presenting with arthrogryposis.
本文描述了一名患有多发性先天性挛缩（MCC）或先天性多发性关节挛缩症以及脑白质营养不良的新生儿。临床特征和神经生理学研究提示这是一种主要累及中枢白质的疾病。死后诊断为先天性佩利措伊斯-默茨巴赫病。对于患有关节挛缩症的婴儿，应考虑这种髓鞘形成障碍疾病。
