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Divisions of ¹Pediatric Nutrition and Metabolism and ³Pediatric Neurology, Department of Pediatrics, and ²Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey, and ⁴Department of Pediatrics, Laboratory of Genetic Metabolic Diseases, Academic Medical Center, Amsterdam, the Netherlands
E-mail: kilickorkmaz@yahoo.com.tr We report magnetic resonance (MR) imaging findings including diffusionweighted imaging and proton MR spectroscopy findings in a patient with infantile Refsum disease. The initial diagnosis was made on the basis of history, clinical findings and biochemical studies. Bilateral and symmetrical involvement of the peritrigonal white matter, centrum semiovale, thalami, corpus callosum and corticospinal tracts as assessed by increased T2 signal was highly suggestive of a peroxisomal disorder. Facilitated diffusion was observed in diseased parenchyma. Long echo-time (TE: 270 ms) MRS showed decreased N-acetyl-aspartate/creatine and elevated choline/creatine and lactate; short echo-time MRS (TE: 30 ms) revealed increased myoinositol at 3.56 ppm and lipid peaks at 0.9 and 1.3 ppm. A major contribution to the differential diagnosis came from MR imaging and proton MRS, as discussed in this report. Keywords : infantile Refsum disease, cranial MRI, MRS.