In Vivo Pyruvate Detected by MR Spectroscopy in Neonatal Pyruvate Dehydrogenase Deficiency
Dina J. Zanda,
Erin M. Simonb,
Steven B. Pulitzera,
D.J. Wangb,
Z.J. Wangb,
Lucy B. Rorkec,
Michael Palmieria and
Gerard T. Berrya
a Division of Human and Molecular Genetics, Department of Pediatrics, The Children’s Hospital of Philadelphia, and MCP Hahnemann School of Medicine (S.B.P.), Philadelphia, PA
b Department of Radiology, The Children’s Hospital of Philadelphia, and MCP Hahnemann School of Medicine (S.B.P.), Philadelphia, PA
c Department of Pathology, The Children’s Hospital of Philadelphia, and MCP Hahnemann School of Medicine (S.B.P.), Philadelphia, PA
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FIG 1. Ultrafast fetal MR images obtained at 34 weeks’ gestation.
A and B, Axial view half-Fourier single shot turbo spin-echo fetal MR images (12/95 [TR/effective TE]; number of acquisitions, one) show enlarged ventricular size and the diffusely abnormal gyral pattern.
C and D, Postnatal coronal view turbo spin-echo T2-weighted MR images (6000/99; number of acquisitions, two) highlight the findings along with the cerebellar subcortical cyst.
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FIG 2. 2D chemical shift MR spectroscopy (TE, 135 ms). Arrow indicates lactate doublet at 1.33 ppm; arrowhead indicates pyruvate peak at 2.37 ppm.
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FIG 3. Photomicrographs from postmortem examination.
A, Transverse section of the medulla shows ectopic olivary nucleus in inferior cerebellar peduncle (Luxol fast blue cresyl violet; magnification, x4).
B, Transverse section of the pons shows absence of descending cortical tracts in basis pontis (Luxol fast blue cresyl violet; magnification, x1).
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