Infantile Refsum Disease: A Rare Case

Abstract

Peroxisomal biogenesis disorders are a group of rare genetic disorders due to impairment in one or more peroxisomal function. Infantile Refsum disease (IRD) is a peroxisomal biogenesis disorder caused by a defect in phytanic acid metabolism. We report the case of a 6-year-old boy who presented with developmental delay, ataxia, hypotonia, areflexia, vision and hearing impairment, dysmorphism, and hepatomegaly. His plasma very long chain fatty acids analysis revealed increased levels of phytanic acid, pristanic acid, and higher ratios of C24/22 and C26/22 than the normal. This confirmed the diagnosis of IRD in our case. Magnetic resonance imaging revealed progressive white matter changes involving cerebral white matter, cerebellar white matter, and dentate nuclei of the cerebellum, along with progressive corticocerebellar atrophy which have been infrequently described in the literature. Owing to the rarity of cases of IRD being reported especially from India, and the peculiar imaging findings, we wish to report this case.