《英文msh词典》Cherry Red Spot Myoclonus Syndrome
[同义词] Cherry Red Spot Myoclonus Syndrome
[主题词] Mucolipidoses
[中文释义] 樱桃红斑肌阵挛综合征
[英文释义] A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides,sphingolipids,and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. Mental retardation and skeletal changes,most notably dysostosis multiplex,occur frequently. (From Joynt,Clinical Neurology,1992,Ch56,pp36-7)