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.