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Journals / Turkish Journal of Pediatrics / 2015 / Cilt: 57 - Sayı: 3

Conventional and advanced MR imaging in infantile Refsum disease

Göknur HALİLOĞLU
Kader KARLI-OĞUZ
Merall TOPÇU
Ronald James WANDERS
Mustafa KILIÇ
Turgay COŞKUN
Pages
294–299
Publication Date
2022-11-05
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

A major contribution to the differential diagnosis came from MR imaging and proton MRS, as discussed in this report.

📌 3 Key Takeaways

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Objective & Hypothesis:We report magnetic resonance (MR) imaging findings including diffusionweighted imaging and proton MR spectroscopy findings in a patient with infantile Refsum disease.
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Key Findings & Data: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.
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Conclusion & Impact:A major contribution to the differential diagnosis came from MR imaging and proton MRS, as discussed in this report.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

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.

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Cite This Article

HALİLOĞLU, G., KARLI-OĞUZ, K., TOPÇU, M., WANDERS, R. J., KILIÇ, M., COŞKUN, T. (2022). Conventional and advanced MR imaging in infantile Refsum disease. Turkish Journal of Pediatrics, Cilt: 57 - Sayı: 3, 294–299. https://ajindex.com/articles/613278

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