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MR imaging and spectroscopy in juvenile Huntington disease

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Abstract

Juvenile Huntington disease manifests differently from adult Huntington disease and has more variability in presentation. We describe a child with cognitive decline and adventitial movements in whom Huntington disease was confirmed with genetic testing. MR imaging showed abnormal T2 prolongation in the putamina and progressive caudate atrophy, and MR spectroscopy revealed elevated myoinositol and diminished N-acetyl aspartate, creatine, and phosphocreatine. Imaging findings of caudate atrophy and abnormal T2 prolongation in the putamina with MR spectroscopy findings consistent with dense gliosis can be helpful indicators of juvenile Huntington disease.

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Authors and Affiliations

  1. Division of Neurology, Department of Pediatrics, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA

    Mark Schapiro & Jason Doescher

  2. Imaging Research Center, Departments of Radiology and Pediatrics, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA

    Kim M. Cecil & Alaina M. Kiefer

  3. Division of Neuroradiology, Department of Radiology and Pediatrics, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA

    Blaise V. Jones

Authors
  1. Mark Schapiro
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  2. Kim M. Cecil
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  3. Jason Doescher
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  4. Alaina M. Kiefer
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  5. Blaise V. Jones
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Corresponding author

Correspondence to Kim M. Cecil.

Additional information

This work was funded in part by NIEHS P01 ES011261 (Dr. Cecil)

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Schapiro, M., Cecil, K.M., Doescher, J. et al. MR imaging and spectroscopy in juvenile Huntington disease. Pediatr Radiol 34, 640–643 (2004). https://doi.org/10.1007/s00247-004-1159-y

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  • DOI: https://doi.org/10.1007/s00247-004-1159-y

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