Conventional and advanced MR imaging in infantile Refsum disease
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...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2015-06-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/1241 |
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| author | Mustafa Kılıç Kader Karlı-Oğuz Göknur Haliloğlu Meral Topçu Ronald James Wanders Turgay Coşkun |
| author_facet | Mustafa Kılıç Kader Karlı-Oğuz Göknur Haliloğlu Meral Topçu Ronald James Wanders Turgay Coşkun |
| author_sort | Mustafa Kılıç |
| collection | DOAJ |
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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.
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| format | Article |
| id | doaj-art-b0de8a48224e489ab88f66d7dc9bf176 |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2015-06-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-b0de8a48224e489ab88f66d7dc9bf1762025-08-20T02:55:41ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212015-06-01573Conventional and advanced MR imaging in infantile Refsum diseaseMustafa Kılıç0Kader Karlı-OğuzGöknur HaliloğluMeral TopçuRonald James WandersTurgay CoşkunDivisions of Pediatric Nutrition and Metabolism, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. kilickorkmaz@yahoo.com.tr. 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. https://turkjpediatr.org/article/view/1241 |
| spellingShingle | Mustafa Kılıç Kader Karlı-Oğuz Göknur Haliloğlu Meral Topçu Ronald James Wanders Turgay Coşkun Conventional and advanced MR imaging in infantile Refsum disease The Turkish Journal of Pediatrics |
| title | Conventional and advanced MR imaging in infantile Refsum disease |
| title_full | Conventional and advanced MR imaging in infantile Refsum disease |
| title_fullStr | Conventional and advanced MR imaging in infantile Refsum disease |
| title_full_unstemmed | Conventional and advanced MR imaging in infantile Refsum disease |
| title_short | Conventional and advanced MR imaging in infantile Refsum disease |
| title_sort | conventional and advanced mr imaging in infantile refsum disease |
| url | https://turkjpediatr.org/article/view/1241 |
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