Müller-Höcker J, Bise K, Endres W, Hübner G
Virchows Arch A Pathol Anat Histol. 1981;393(1):103-14. doi: 10.1007/BF00430874.
A female newborn, the second child of healthy non consanguineous parents, exhibited muscular hypotonia, areflexia, apathy, seizures, hepatomegaly and failure to thrive since birth. The peculiar skull shape was lacking. In the urine pipecolic acid and trihydroxycoprostanoic acid were excreted. At the age of seven weeks she died of bronchopneumonia. Lightmicroscopy revealed malformations and deficiency of myelinisation in the brain, renal cysts and fatty metamorphosis in the enlarged liver, which showed only minimal siderosis. Ultrastructurally no peroxisomes could be found in liver and kidney. No peroxisomes were detected by histochemical demonstration of catalase in frozen liver tissue which was taken immediately after death and stored for three months. Absence of peroxisomes is pathognomonic for the cerebro-hepato-renal syndrome of Zellweger and occurs in the liver irrespective of duration and degree of liver damage. It is best demonstrated by enzymehistochemical electron microscopy. With this method peroxisomes can be visualized even 30 h post mortem. In deep frozen normal liver tissue the activity of catalase remains very stable and enables the identification of peroxisomes even after a 12 months period of storage. In the cerebro-hepato-renal syndrome of Zellweger, frozen liver tissue should be stored for biochemical and diagnostic enzymehistochemical studies.
一名女新生儿，是健康非近亲父母的第二个孩子，自出生以来表现出肌张力减退、反射消失、冷漠、癫痫发作、肝肿大和发育不良。没有特殊的头骨形状。尿液中排泄出了哌可酸和三羟基降前列腺素酸。在7周龄时，她死于支气管肺炎。光镜检查显示大脑有畸形和髓鞘形成缺陷，肾脏有囊肿，肝脏肿大并有脂肪变性，仅显示轻微的含铁血黄素沉着。超微结构检查发现肝脏和肾脏中没有过氧化物酶体。在死后立即取出并储存3个月的冷冻肝脏组织中，通过过氧化氢酶的组织化学证明未检测到过氧化物酶体。过氧化物酶体的缺失是泽尔韦格脑肝肾综合征的特征性表现，无论肝脏损伤的持续时间和程度如何，在肝脏中都会出现。通过酶组织化学电子显微镜可以最好地证明这一点。用这种方法，即使在死后30小时也能观察到过氧化物酶体。在深度冷冻的正常肝脏组织中，过氧化氢酶的活性保持非常稳定，即使在储存12个月后也能识别过氧化物酶体。在泽尔韦格脑肝肾综合征中，冷冻肝脏组织应储存用于生化和诊断性酶组织化学研究。
