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AJNR - American Journal of Neuroradiology

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American Journal of Neuroradiology 24:1471-1474, August 2003
© 2003 American Society of Neuroradiology

Case Report
PEDIATRIC

In Vivo Pyruvate Detected by MR Spectroscopy in Neonatal Pyruvate Dehydrogenase Deficiency

Dina J. Zand^a, Erin M. Simon^b, Steven B. Pulitzer^a, D.J. Wang^b, Z.J. Wang^b, Lucy B. Rorke^c, Michael Palmieri^a and Gerard T. Berry^a

^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

Address reprint requests to Erin M. Simon, MD, OTR, Department of Radiology, The Children’s Hospital of Philadelphia, 34th and Civic Center Boulevard, Philadelphia, PA 19104

Summary: We present a unique finding of an elevated level of pyruvate at 2.37 ppm revealed by in vivo MR spectroscopy of a female neonate. Low fibroblast pyruvate dehydrogenase (PDH) complex activity subsequently confirmed a diagnosis of PDH deficiency. Abnormalities of brain development consistent with PDH deficiency were also evident on fetal and postnatal MR images. To our knowledge, this is the first report of pyruvate being shown in vivo in a child and the first report of MR spectroscopy aiding in the diagnosis of inborn error in pyruvate metabolism before confirmation by conventional enzymatic testing. This finding has potential implications for earlier diagnosis in patients with defects in mitochondrial metabolism.

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