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Research ArticlePediatric Neuroimaging

MR Imaging and MR Spectroscopy in Rhizomelic Chondrodysplasia Punctata

Angèle Viola, Sylviane Confort-Gouny, Jean-Philippe Ranjeva, Brigitte Chabrol, Charles Raybaud, Francisca Vintila and Patrick J. Cozzone
American Journal of Neuroradiology March 2002, 23 (3) 480-483;
Angèle Viola
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Sylviane Confort-Gouny
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Jean-Philippe Ranjeva
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Brigitte Chabrol
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Charles Raybaud
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Francisca Vintila
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Patrick J. Cozzone
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    Fig 1.

    MR images.

    A, Axial T1-weighted image of the basal ganglia shows small delivery-related hemorrhage over the temporal convexity and bilateral areas (arrows) of low signal intensity in the white matter of the most anterior portion of the superior frontal gyrus. Hypointense areas are more pronounced on the left. Note the encysted cavum septi pellucidi.

    B, Coronal T2-weighted image shows bilateral areas (arrows) of high signal intensity in the superior parietal lobules. Hyperintense areas are more pronounced on the left.

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    Fig 2.

    1H MR spectrum obtained at with the STEAM sequence (TE, 20 milliseconds) in the occipitoparietal white matter. The dominant feature of the spectrum is the high lipid and Ins-Gly content. The presence of an unusual resonance at 1.95 ppm was detected and assigned to acetate.

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    Fig 3.

    Long-TE (135 milliseconds) 1H spectra obtained at 1.5 T with the CSI sequence in the occipitoparietal region. The main feature common to both spectra is the high Ins-Gly content.

    A, Gray matter.

    B, White matter.

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    Fig 4.

    1H MR spectrum in blood serum analyzed at 400 MHz shows a high concentration of lactate, creatine, and glutamate, whereas ketone body levels are normal. 1 indicates lactate; 2, myo-inositol; 3, glycine; 4, glucose; 4*, mostly glucose; 5, creatinine; 6, creatine; 7, citrate; 8, glutamine; 9, glutamate; 10, acetone; 11, lysine; 12, alanine; 13, butyrate, valerate, malonate, and succinate derivatives; 14, valine; 15, leucine; 16, α-hydroxybutyrate; 17, 3-(trimethylsilyl)propionate-2,2,3,3-d4; *, traces of glycerol from ultrafiltration.

Tables

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  • Brain metabolite analysis

    White Matter RatioValue in the Patient with RCDP*Control Value†
    NAA/tCr1.271.10
    Cho/tCr1.211.40
    Ins-Gly/tCr1.461.10
    • Note.—STEAM spectra with a TE of 20 milliseconds.

    • * At 40 weeks’ gestational age.

    • † From reference 14.

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American Journal of Neuroradiology: 23 (3)
American Journal of Neuroradiology
Vol. 23, Issue 3
1 Mar 2002
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Cite this article
Angèle Viola, Sylviane Confort-Gouny, Jean-Philippe Ranjeva, Brigitte Chabrol, Charles Raybaud, Francisca Vintila, Patrick J. Cozzone
MR Imaging and MR Spectroscopy in Rhizomelic Chondrodysplasia Punctata
American Journal of Neuroradiology Mar 2002, 23 (3) 480-483;

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MR Imaging and MR Spectroscopy in Rhizomelic Chondrodysplasia Punctata
Angèle Viola, Sylviane Confort-Gouny, Jean-Philippe Ranjeva, Brigitte Chabrol, Charles Raybaud, Francisca Vintila, Patrick J. Cozzone
American Journal of Neuroradiology Mar 2002, 23 (3) 480-483;
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