KL Cheung, CH Ko, HHC Lee , CM Mak

Abstract

The first Chinese case of Infantile Refsum disease (IRD), one of less severe form of peroxisome biogenesis disorders, is illustrated in this case report. The patient presented with global developmental delay without facial dysmorphism and his routine metabolic screening was negative. Initial very long chain fatty acids (VLCFA) assays showed marginally elevated C26/C22 ratio and pristanic and phytanic acid levels were within normal limits. Magnetic resonance imaging and nerve conduction velocity findings revealed abnormal results and VLCFA assays were subsequently repeated which demonstrated persistently elevated C26/C22 ratio and raised pristanic and phytanic acids. The diagnosis of IRD was confirmed with genetic study. The diagnostic approach and the corresponding investigations, in particular the use of serial VLCFA assays to improve the diagnostic yield, are highlighted.

這篇病例報導闡明了我國第一例嬰兒型Refsum病，其為相對不嚴重的過氧化物體生成異常疾病中的一種；患兒存在全面的發育延遲而無明顯面部畸形，而且常規的遺傳代謝篩查結果是正常的；早期長鏈脂肪酸檢查顯示

C26／C22比例輕微升高，而且原酸和植烷酸的水準位於正常上限。MRI和神經傳導速率的檢查結果提示異常，而隨之複查的長鏈脂肪酸檢查結果發現持續升高的C26／C22比例、原酸和植烷酸水準。我們通過基因檢查確立此患兒為嬰兒型Refsum病。本文強調了此疾病的診斷方法和相應的檢查手段，我們發現多次長鏈脂肪酸的血液檢查可提高診斷陽性率。