Barth P G, Schutgens R B, Bakkeren J A, Dingemans K P, Heymans H S, Douwes A C, van der Klei-van Moorsel J M
Eur J Pediatr. 1985 Nov;144(4):338-42. doi: 10.1007/BF00441774.
A 4.5-year-old male patient is described with chorioretinopathy, minor facial anomalies, delayed closure of the fontanel, mental retardation, moderate hypotonia, epilepsy and hepatic fibrosis. Postural control, intentional vocalising and manual dexterity were superior to the performance of patients with classical Zellweger syndrome (ZS). Morphologically distinct peroxisomes were absent in the liver. In blood elevated pipecolic acid levels and abnormal levels of bile acid intermediates were found. The plasmalogen content of erythrocytes was normal. In fibroblasts we found an accumulation of very long chain fatty acids, decreased activity of acyl CoA:dihydroxyacetone phosphate acyltransferase, and impaired de novo biosynthesis of plasmalogens. On the basis of these clinical, ultrastructural and biochemical characteristics we assume that this patient represents a milder variant of the classical cerebro-hepato-renal syndrome of Zellweger.
一名4.5岁男性患者，患有脉络膜视网膜病变、轻微面部畸形、囟门闭合延迟、智力发育迟缓、中度肌张力减退、癫痫和肝纤维化。其姿势控制、有意识发声和手部灵活性优于典型齐-韦二氏综合征（ZS）患者。肝脏中未发现形态学上不同的过氧化物酶体。血液中发现哌可酸水平升高和胆汁酸中间体水平异常。红细胞的缩醛磷脂含量正常。在成纤维细胞中，我们发现超长链脂肪酸积累、酰基辅酶A：磷酸二羟丙酮酰基转移酶活性降低以及缩醛磷脂的从头生物合成受损。基于这些临床、超微结构和生化特征，我们推测该患者代表齐-韦二氏经典脑肝肾综合征的一种较轻型变体。
