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A case of Sjögren-Larsson syndrome with minimal MR imaging findings facilitated by proton spectroscopy

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Abstract

We present a 5-year-old girl who was ultimately diagnosed with Sjögren-Larsson syndrome (SLS). Although her MRI findings were minimal compared to previously published cases, prominent and characteristic abnormal lipid peaks on single-voxel proton MR spectroscopy (1H-MRS) facilitated the diagnosis. This case emphasizes the importance and usefulness of 1H-MRS in diagnosing SLS.

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Authors and Affiliations

  1. Department of Radiology, Kanagawa Children’s Medical Center, 2-138-4 Mutsukawa, Minami-ku, Yokohama, 232-8555, Japan

    Yasuhiko Tachibana & Noriko Aida

  2. Division of Medical Genetics, Kanagawa Children’s Medical Center, Yokohama, Japan

    Keisuke Enomoto & Kenji Kurosawa

  3. Department of Neurology, Kanagawa Children’s Medical Center, Yokohama, Japan

    Mizue Iai

Authors
  1. Yasuhiko Tachibana
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  2. Noriko Aida
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  3. Keisuke Enomoto
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  4. Mizue Iai
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  5. Kenji Kurosawa
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Corresponding author

Correspondence to Yasuhiko Tachibana.

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Tachibana, Y., Aida, N., Enomoto, K. et al. A case of Sjögren-Larsson syndrome with minimal MR imaging findings facilitated by proton spectroscopy. Pediatr Radiol 42, 380–382 (2012). https://doi.org/10.1007/s00247-011-2156-6

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  • DOI: https://doi.org/10.1007/s00247-011-2156-6

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