Mohebbi Mohammad R, Rush Eric T, Rizzo William B, Banagale Raul C
Siouxland Medical Education Foundation-University of Iowa, Sioux City, IA 51104, USA.
J Child Neurol. 2012 Dec;27(12):1589-92. doi: 10.1177/0883073811435918. Epub 2012 Feb 28.
Zellweger syndrome (cerebrohepatorenal syndrome) is very rare and is the most severe form of peroxisomal biogenesis disorders. These can be caused by mutations in any of the currently known Peroxin genes and typically present in the neonatal period with multiorgan involvement. Patients usually do not survive beyond 1 year of age. This article reports a case of Zellweger syndrome in a male Native American infant confirmed by clinical findings, imaging studies, and biochemical analysis. Genetic studies show a novel mutation (c.3030G>T, p. Glutamine1010Histidine) altering the last nucleotide of exon 19 in the Peroxin1 (PEX1) gene.
泽韦格综合征（脑肝肾综合征）非常罕见，是过氧化物酶体生物发生障碍最严重的一种形式。这些障碍可由目前已知的任何一种过氧化物酶基因发生突变引起，通常在新生儿期出现，累及多个器官。患者通常活不过1岁。本文报告了一例男性美洲原住民婴儿患泽韦格综合征的病例，该病例经临床检查、影像学研究及生化分析得以确诊。基因研究显示，过氧化物酶1（PEX1）基因外显子19的最后一个核苷酸发生了一种新的突变（c.3030G>T，p.谷氨酰胺1010组氨酸）。
