Chow C W, Poulos A, Fellenberg A J, Christodoulou J, Danks D M
Department of Anatomical Pathology, Royal Children's Hospital, Melbourne, Victoria, Australia.
Acta Neuropathol. 1992;83(2):190-5. doi: 10.1007/BF00308478.
Recognition of adrenal atrophy during a review of autopsy findings in two sisters who died at 8 months and 3 1/2 years prompted estimation of very long chain fatty acids, phytanic acid and pristanic acid on wet liver fixed in formalin for 12 years. These were shown to be markedly increased and defects in multiple peroxisomal functions and decrease in particulate catalase were shown in cultured fibroblasts, confirming an abnormality of peroxisomal biogenesis. The patients had presented with failure to thrive, recurrent diarrhoea and vomiting, poor mental development, retinal pigmentation, blindness and in the older patient deafness, with only mild dysmorphic features. Autopsy in the older patient showed adrenal atrophy, cirrhosis, and foamy histiocytes in multiple organs. The brain showed no demyelination, little cytoarchitectural abnormality, occasional perivascular histiocytes in the grey matter and meninges and prominent Purkinje cells in the molecular layer of the cerebellum. In the younger patient the changes were very subtle in spite of the marked clinical similarity. Despite the young age at death the clinicopathological features are most suggestive of infantile Refsum disease. In many situations anatomical pathology can be very useful in the recognition and study of peroxisomal disorders.
在对两名分别于8个月和3岁半死亡的姐妹的尸检结果进行复查时发现肾上腺萎缩，这促使对保存在福尔马林中达12年的湿肝组织进行极长链脂肪酸、植烷酸和降植烷酸的测定。结果显示这些物质显著增加，并且在培养的成纤维细胞中显示出多种过氧化物酶体功能缺陷以及微粒体过氧化氢酶减少，证实了过氧化物酶体生物发生异常。患者表现为生长发育迟缓、反复腹泻和呕吐、智力发育不良、视网膜色素沉着、失明，年龄较大的患者还伴有耳聋，仅有轻微的畸形特征。对年龄较大患者的尸检显示肾上腺萎缩、肝硬化以及多个器官中有泡沫状组织细胞。脑部未显示脱髓鞘，细胞结构异常轻微，灰质和脑膜中偶尔有血管周围组织细胞，小脑分子层中有突出的浦肯野细胞。在较年轻的患者中，尽管临床症状极为相似，但变化非常细微。尽管患者死亡时年龄较小，但临床病理特征最符合婴儿型Refsum病。在许多情况下，解剖病理学对于过氧化物酶体疾病的识别和研究非常有用。
