Prenatal diagnosis of hypoplasia of the corpus callosum in association with non-ketotic hyperglycinemia

Ultrasound Obstet Gynecol. 2002 Dec;20(6):616-9. doi: 10.1046/j.1469-0705.2002.00869.x.

Abstract

Abnormalities of the corpus callosum are often associated with a poor prognosis due to the anatomical defect itself and associated anomalies that include malformations and inherited metabolic disorders. We report a case of the prenatal diagnosis of hypoplasia of the corpus callosum that was associated with non-ketotic hyperglycinemia. Metabolic disorders are a known association with corpus callosum abnormalities and carry a dismal prognosis. A diagnosis of non-ketotic hyperglycinemia should be considered when a fetus presents with an abnormality of the corpus callosum. A literature search reviews other inherited diseases associated with hypoplasia of the corpus callosum.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / diagnostic imaging
  • Agenesis of Corpus Callosum*
  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Amino Acid Metabolism, Inborn Errors / diagnostic imaging
  • Electroencephalography / methods
  • Fatal Outcome
  • Female
  • Fetal Diseases / diagnosis*
  • Fetal Diseases / diagnostic imaging
  • Glycine / blood
  • Humans
  • Hyperglycinemia, Nonketotic / diagnosis*
  • Hyperglycinemia, Nonketotic / diagnostic imaging
  • Infant, Newborn
  • Magnetic Resonance Imaging / methods*
  • Male
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Ultrasonography, Prenatal / methods

Substances

  • Glycine