Infantile Refsum Disease: A Rare Case
17 March 2015
18 May 2015
28 April 2016 (online)
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.
All authors have read the article and approved the final version. R. S., V. P.: Data acquisition. S. K., R. S., V. P.: Literature research, article preparation. S. K., V. P., R. S., M. G.: Article editing and revision.
- 1 Aubourg P, Wanders R. Peroxisomal disorders. Handb Clin Neurol 2013; 113: 1593-1609
- 2 Smith SA, Ouvrier R. Peripheral neuropathies. In: Swaiman KF, Ashwal S, Ferriero DM, eds. Pediatric Neurology: Principles and Practice. 4th ed. Vol 2. Philadelphia, PA: Elsevier; 2006: 1887-1918
- 3 Steinberg SJ, Dodt G, Raymond GV, Braverman NE, Moser AB, Moser HW. Peroxisome biogenesis disorders. Biochim Biophys Acta 2006; 1763 (12) 1733-1748
- 4 Refsum S, Salomonsen L, Skatvedt M. Heredopathia atactica polyneuritiformis in children. J Pediatr 1949; 35 (3) 335-343
- 5 Ogier H, Aicardi J. Metabolic diseases. In: Aicardi J, ed. Diseases of the Nervous System in Childhood. 2nd ed. London: Mackeith Press; 1998: 258-264
- 6 Torvik A, Torp S, Kase BF, Ek J, Skjeldal O, Stokke O. Infantile Refsum's disease: a generalized peroxisomal disorder. Case report with postmortem examination. J Neurol Sci 1988; 85 (1) 39-53
- 7 Dubois J, Sebag G, Argyropoulou M, Brunelle F. MR findings in infantile Refsum disease: case report of two family members. AJNR Am J Neuroradiol 1991; 12 (6) 1159-1160
- 8 Choksi V, Hoeffner E, Karaarslan E, Yalcinkaya C, Cakirer S. Infantile refsum disease: case report. AJNR Am J Neuroradiol 2003; 24 (10) 2082-2084
- 9 Cakirer S, Savas MR. Infantile Refsum disease: serial evaluation with MRI. Pediatr Radiol 2005; 35 (2) 212-215