Hebestreit H, Wanders R J, Schutgens R B, Espeel M, Kerckaert I, Roels F, Schmausser B, Schrod L, Marx A
Universitäts Kinderklinik, Würzburg, Germany.
Eur J Pediatr. 1996 Dec;155(12):1035-9. doi: 10.1007/BF02532526.
Rhizomelic chondrodysplasia punctata (RCDP) is clinically characterized by symmetrical shortening of the proximal limbs, contractures of joints, a characteristic dysmorphic face, and cataracts. In the classical form an impairment of several peroxisomal functions and enzymes (plasmalogen synthesis, phytanic acid oxidation, 3-oxoacyl-CoA thiolase) has been repeatedly shown. Recently a variant involving only the peroxisomal dihydroxyacetonephosphate acyltransferase (DHAP-AT) has been described. We present a patient with isolated DHAP-AT deficiency and all clinical, radiological and pathological features of classical RCDP. For the first time, microscopy and immunocytochemistry of hepatocytes could be performed.
In contrast to studies on classical rhizomelic chondrodysplasia punctata which have shown enlarged peroxisomes in numbers varying from hepatocyte to hepatocyte, the peroxisomes in our patient seem to be normal in size, number and shape.
肢根型点状软骨发育不良（RCDP）的临床特征为近端肢体对称性缩短、关节挛缩、特殊的畸形面容和白内障。在经典型中，已反复证实多种过氧化物酶体功能和酶（缩醛磷脂合成、植烷酸氧化、3-氧代酰基辅酶A硫解酶）存在缺陷。最近，已描述了一种仅涉及过氧化物酶体二羟基丙酮磷酸酰基转移酶（DHAP-AT）的变异型。我们报告了一例孤立性DHAP-AT缺乏症患者，其具有经典RCDP的所有临床、放射学和病理学特征。首次对肝细胞进行了显微镜检查和免疫细胞化学分析。
与关于经典肢根型点状软骨发育不良的研究不同，那些研究显示过氧化物酶体数量增多且大小因肝细胞而异，而我们患者的过氧化物酶体在大小、数量和形状上似乎是正常的。
