title: Conventional and advanced MR imaging in infantile Refsum disease.
abstract: We report magnetic resonance (MR) imaging findings including diffusion-weighted 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.
authors.affiliation: Divisions of Pediatric Nutrition and Metabolism, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. kilickorkmaz@yahoo.com.tr.
authors.forename: Mustafa
authors.initials: M
authors.lastname: Kılıç
authors.forename: Kader
authors.initials: K
authors.lastname: Karlı-Oğuz
authors.forename: Göknur
authors.initials: G
authors.lastname: Haliloğlu
authors.forename: Meral
authors.initials: M
authors.lastname: Topçu
authors.forename: Ronald James
authors.initials: RJ
authors.lastname: Wanders
authors.forename: Turgay
authors.initials: T
authors.lastname: Coşkun
mesh_terms: D001224:Aspartic Acid / Q000378:metabolism; D002675:Child, Preschool; D002794:Choline / Q000378:metabolism; D003401:Creatine / Q000378:metabolism; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007773:Lactates / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D052919:Refsum Disease, Infantile / Q000175:diagnosis*
chemical_list: D007773:Lactates; D001224:Aspartic Acid; D003401:Creatine; D002794:Choline