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01-08-2004 | Case Report

MR imaging and spectroscopy in juvenile Huntington disease

Authors: Mark Schapiro, Kim M. Cecil, Jason Doescher, Alaina M. Kiefer, Blaise V. Jones

Published in: Pediatric Radiology | Issue 8/2004

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.

Nance MA, US Huntington Disease Genetic Testing Group (1997) Genetic testing of children at risk for Huntington’s disease. Neurology 49:1048–1053PubMed

Provencher SW (1993) Estimation of metabolite concentrations from localized in vivo proton NMR spectra. Magn Reson Med 30:672–679PubMed

Lucotte G, Turpin JC, Riess O, et al (1995) Confidence intervals for predicted age of onset, given the size of (CAG)n repeat, in Huntington’s disease. Hum Genet 95:231–232PubMed

Ho VB, Chuang HS, Rovira MJ, et al (1995) Juvenile Huntington disease: CT and MR features. AJNR 16:1405–1412PubMed

Mirowitz SA, Sartor K, Prensky AJ, et al (1991) Neurodegenerative diseases of childhood: MR and CT evaluation. J Comput Assist Tomogr 15:210–222

Rosas HD, Chen YI, Skeuse C, et al (2003) Evidence for more widespread cerebral pathology in early HD; an MRI-based morphometric analysis. Neurology 60:1615–1620PubMed

Rosas HD, Goodman J, Chen YI, et al (2001) Striatal volume loss in HD as measured by MRI and the influence of CAG repeat. Neurology 57:1025–1028PubMed

Jenkins BG, Rosas HD, Chen YC, et al (1998) 1H NMR spectroscopy studies of Huntington’s disease: correlations with CAG repeat numbers. Neurology 50:1357–1365PubMed

Harms L, Meierkord H, Timm G, et al (1997) Decreased N-acetyl-aspartate/choline ratio and increased lactate in the frontal lobe of patients with Huntington’s disease: a proton magnetic resonance spectroscopy study. J Neurol Neurosurg Psychiatry 62:27–30PubMed

10.

Sanchez-Pernaute R, Garcia-Segura JM, del Barrio Alba A, et al (1999) Clinical correlation of striatal 1H MRS changes in Huntington’s disease. Neurology 53:806–812PubMed

11.

Andreassen OA, Dedeoglu A, Ferrante RJ, et al (2001) Creatine increase survival and delays motor symptoms in a transgenic animal model of Huntington’s disease. Neurobiol Dis 8:479–491CrossRefPubMed

12.

Koroshetz WJ, Jenkins BG, Rosen BR, et al (1997) Energy metabolism defects in Huntington’s disease and effects of coenzyme Q10. Ann Neurol 41:160–1655PubMed

Title: MR imaging and spectroscopy in juvenile Huntington disease
Authors: Mark Schapiro
Kim M. Cecil
Jason Doescher
Alaina M. Kiefer
Blaise V. Jones
Publication date: 01-08-2004
Publisher: Springer-Verlag
Published in: Pediatric Radiology / Issue 8/2004
Print ISSN: 0301-0449
Electronic ISSN: 1432-1998
DOI: https://doi.org/10.1007/s00247-004-1159-y

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Springer Medicine

MR imaging and spectroscopy in juvenile Huntington disease

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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