Scotto J M, Hadchouel M, Odievre M, Laudat M H, Saudubray J M, Dulac O, Beucler I, Beaune P
J Inherit Metab Dis. 1982;5(2):83-90. doi: 10.1007/BF01799998.
Three cases of phytanic acid storage disease with symptoms during the first months of life are reported. Hepatomegaly, facial dysmorphia, growth and/or mental retardation and osteopenia were observed in addition to retinitis pigmentosa and neurosensory deafness. The presence of phytanic acid in serum (160-320 mumol/1 (50-100 micrograms/ml)) was accompanied by hypocholesterolaemia. Electron microscopy showed that a storage material had accumulated in mesenchymal and parenchymal liver cells. Lamellar structures were seen in hepatocytes and other storing cells. These inclusions resembled the structures found in plant chloroplasts containing phytol. Some of the clinical and biological data obtained were consistent with Refsum's disease. However, other characteristics such as mental retardation, hepatomegaly, osteopenia, hypocholesterolaemia and hypoalphalipoproteinaemia, as well as the ultrastructural findings in the liver, suggested that our patients' illness was either a phytanic acid storage disease different from the classical form of Refsum's disease, or a more severe early symptomatic form of Refsum's disease. Early diagnosis by phytanic acid assay and electron microscopic liver examination calls for prescription of a low phytanate diet in the hope of improving the child's condition.
报告了3例在出生后最初几个月出现症状的植烷酸贮积病病例。除色素性视网膜炎和神经性耳聋外，还观察到肝肿大、面部畸形、生长和/或智力发育迟缓以及骨质减少。血清中植烷酸的存在（160 - 320 μmol/1（50 - 100 μg/ml））伴有低胆固醇血症。电子显微镜检查显示，间充质和实质肝细胞中积累了一种贮存物质。在肝细胞和其他贮存细胞中可见层状结构。这些包涵体类似于在含有叶绿醇的植物叶绿体中发现的结构。所获得的一些临床和生物学数据与Refsum病一致。然而，其他特征，如智力发育迟缓、肝肿大、骨质减少、低胆固醇血症和低α脂蛋白血症，以及肝脏的超微结构发现，提示我们的患者所患疾病要么是一种不同于经典形式Refsum病的植烷酸贮积病，要么是Refsum病更严重的早期症状形式。通过植烷酸检测和肝脏电子显微镜检查进行早期诊断后，需要采用低植烷酸盐饮食，以期改善患儿病情。
