INFANTILE REFSUM DISEASE - AN INHERITED PEROXISOMAL DISORDER - COMPARISON WITH ZELLWEGER SYNDROME AND NEONATAL ADRENOLEUKODYSTROPHY
INFANTILE REFSUM DISEASE - AN INHERITED PEROXISOMAL DISORDER - COMPARISON WITH ZELLWEGER SYNDROME AND NEONATAL ADRENOLEUKODYSTROPHY
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DOI：
10.1007/bf00441598
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发表时间：
1987-09-01
影响因子：
3.6
通讯作者：
TAGER, JM
中科院分区：
文献类型：
--
作者：
POLLTHE, BT;SAUDUBRAY, JM;TAGER, JM
受婴儿Refsum病影响的三名患者被描述为智力低下、轻微面部变形、脉络膜视网膜病变、感觉神经性听力障碍、肝肿大、发育不良和低胆固醇血症。最初，只有植酸的积累被认为是存在的。最近的发现显示出一种与经典齐薇格综合征或新生儿肾上腺脑白质营养不良非常相似的生化特征。形态上典型的过氧化物体在肝脏中缺失。所有这三种疾病都与多发性过氧化物体功能障碍有关。由于这些相似之处，我们将三名患者的相关临床数据与报道的婴儿Refsum病、新生儿肾上腺脑白质营养不良或Zellweger综合征存活数年的患者进行了比较。请注意临床特征的严重程度的差异，从婴儿Refsum‘’S病到新生儿肾上腺脑白质营养不良，最后是齐薇格综合征。
Three patients affected by infantile Refsum disease are described with mental retardation, minor facial dysmorphia, chorioretinopathy, sensorineural hearing deficit, hepatomegaly, failure to thrive and hypocholesterolaemia. Initially, only an accumulation of phytanic acid was thought to be present. More recent findings showed a biochemical profile very similar to that found in classical Zellweger syndrome or neonatal adrenoleukocystrophy. Morphologically typical peroxisomes were absent in the liver. All three disorders are associated with multiple peroxisomal dysfunction. Because of these similarities pertinent clinical data of our three patients are compared with those of reported patients diagnosed as having infantile Refsum disease, neonatal adrenoleukodystrophy or Zellweger syndrome who survived for several years. Attention is drawn to the difference in severity of clinical features, ranging from infantile Refsum''s disease to neonatal adrenoleukodystrophy and, finally, to Zellweger syndrome.