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MR Imaging and MR Spectroscopy in Rhizomelic Chondrodysplasia Punctata

Angèle Violaa, Sylviane Confort-Gounya, Jean-Philippe Ranjevaa, Brigitte Chabrolb, Charles Raybaudc, Francisca Vintilab and Patrick J. Cozzonea

a Centre de Résonance Magnétique en Biologie et Médecine-UMR-CNRS 6612, Marseille, France
b Faculté de Médecine, Service de Neuropédiatrie, Hôpital la Timone, Marseille, France
c Service de Neuroradiologie, Hôpital la Timone, Marseille, France



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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, {alpha}-hydroxybutyrate; 17, 3-(trimethylsilyl)propionate-2,2,3,3-d4; *, traces of glycerol from ultrafiltration.





Copyright © 2009 by the American Society of Neuroradiology. Print ISSN: 0195-6108 Online ISSN: 1936-959X