MacCollin M, De Vivo D C, Moser A B, Beard M
Division of Child Neurology, Columbia Presbyterian Medical Center, New York, NY 10032.
Ann Neurol. 1990 Dec;28(6):833-6. doi: 10.1002/ana.410280617.
A 5-year-old boy with panperoxisomal dysfunction is described. Clinical features included hypotonia, areflexia, and ataxia. Cognition, vision, hearing, and hepatic function were normal. A panel of peroxisomal markers, including very-long-chain fatty acids, phytanic acid, pipecolic acid, and catalase compartmentalization, were abnormal. This is a uniquely benign syndrome of disordered peroxisome biogenesis.
描述了一名患有全过氧化物酶体功能障碍的5岁男孩。临床特征包括肌张力减退、反射消失和共济失调。认知、视力、听力和肝功能正常。一组过氧化物酶体标志物，包括极长链脂肪酸、植烷酸、哌可酸和过氧化氢酶区室化，均异常。这是一种独特的过氧化物酶体生物发生紊乱的良性综合征。
