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

• Published in: Ultrasound in obstetrics & gynecology Vol. 20; no. 6; pp. 616 - 619
• Main Authors: Paupe, A., Bidat, L., Sonigo, P., Lenclen, R., Molho, M., Ville, Y.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Science Ltd 01.12.2002; Wiley
• Subjects: Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - diagnostic imaging; Agenesis of Corpus Callosum; Amino Acid Metabolism, Inborn Errors - diagnosis; Amino Acid Metabolism, Inborn Errors - diagnostic imaging; Antenatal diagnosis; Biological and medical sciences; Electroencephalography - methods; Fatal Outcome; Female; Fetal Diseases - diagnosis; Fetal Diseases - diagnostic imaging; Glycine - blood; Gynecology. Andrology. Obstetrics; Humans; Hyperglycinemia, Nonketotic - diagnosis; Hyperglycinemia, Nonketotic - diagnostic imaging; Hypoplasia of the corpus callosum; Infant, Newborn; Magnetic Resonance Imaging - methods; Male; Management. Prenatal diagnosis; Medical sciences; Non‐ketotic hyperglycinemia; Pregnancy; Pregnancy. Fetus. Placenta; Prenatal Diagnosis - methods; Ultrasonography, Prenatal - methods; Pregnancy disorders; Enzymopathy; Prenatal; Fetal diseases; Postnatal; Female; Diagnosis; Aminoacid disorder; Sonography; Human; Hypoplasia; Nervous system diseases; Agenesis; Metabolic diseases; Nuclear magnetic resonance imaging; Corpus callosum; Cerebral disorder; Genetic disease; Case study; Malformation; Central nervous system disease; Echography; Hyperglycinemia; Medical imagery; Consanguinity
• ISSN: 0960-7692; 1469-0705
• DOI: 10.1046/j.1469-0705.2002.00869.x

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. Copyright © 2002 International Society of Ultrasound in Obstetrics and Gynecology