title: Prenatal diagnosis of pyruvate dehydrogenase deficiency using magnetic resonance imaging.
abstract: BACKGROUND
  Pyruvate dehydrogenase deficiency is an inherited inborn error of metabolism associated with early neonatal death and long-term neurologic sequelae in survivors. Prenatal diagnosis currently relies on isolation of fetal cells for subsequent genetic and/or biochemical studies. Magnetic resonance imaging and magnetic resonance spectroscopy have been used on occasion for both postnatal diagnosis and management of pyruvate dehydrogenase deficiency. We illustrate a case in which these non-invasive modalities also prove useful for prenatal diagnosis of this condition.
  
  
  METHODS
  A 31-year-old multipara with a history of two prior infants affected with pyruvate dehydrogenase deficiency presented with a spontaneous dichorionic, diamniotic twin pregnancy. Magnetic resonance imaging and magnetic resonance spectroscopy were performed on both fetuses. Magnetic resonance imaging of the presenting (male) fetus demonstrated mild ventriculomegaly, increased extracerebrospinal fluid, and decreased cortical sulcation and gyration. The non-presenting (female) fetus was structurally normal. Magnetic resonance spectroscopy spectra were obtained for both fetuses, and were normal. The diagnosis of pyruvate dehydrogenase deficiency was made in the presenting fetus after delivery on the basis of subsequent mortality from severe lactic acidosis.
  
  
  CONCLUSIONS
  Prenatal MR imaging of the fetal brain can be used for prenatal diagnosis in fetuses at risk for pyruvate dehydrogenase deficiency. Prenatal MR spectroscopy, although technically feasible, does not appear to have a role in the prenatal diagnosis of this condition.
authors.affiliation: Department of Obstetrics and Gynecology, Columbia Presbyterian Medical Center, 622 West 168th Street, New York, NY 10032, USA. robinju@hermes.cpmc.columbia.edu
authors.forename: J N
authors.initials: JN
authors.lastname: Robinson
authors.forename: E R
authors.initials: ER
authors.lastname: Norwitz
authors.forename: R
authors.initials: R
authors.lastname: Mulkern
authors.forename: S A
authors.initials: SA
authors.lastname: Brown
authors.forename: F
authors.initials: F
authors.lastname: Rybicki
authors.forename: C M
authors.initials: CM
authors.lastname: Tempany
mesh_terms: D000140:Acidosis, Lactic / Q000209:etiology; D000328:Adult; D002540:Cerebral Cortex / Q000196:embryology / Q000473:pathology; D002552:Cerebral Ventricles / Q000196:embryology / Q000473:pathology; D002555:Cerebrospinal Fluid; D004200:Diseases in Twins; D017809:Fatal Outcome; D005260:Female; D005315:Fetal Diseases / Q000473:pathology; D006801:Humans; D019344:Lactic Acid / Q000097:blood; D008279:Magnetic Resonance Imaging; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000150:complications / Q000175:diagnosis* / Q000473:pathology
chemical_list: D019344:Lactic Acid