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Prenatal diagnosis of hypoplasia of the corpus callosum in association with non‐ketotic hyperglycinemia
Author(s) -
Paupe A.,
Bidat L.,
Sonigo P.,
Lenclen R.,
Molho M.,
Ville Y.
Publication year - 2002
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.2002.00869.x
Subject(s) - corpus callosum , medicine , hypoplasia , abnormality , hyperglycinemia , prenatal diagnosis , optic nerve hypoplasia , pathology , fetus , anatomy , pregnancy , psychiatry , genetics , biology , glycine , amino acid
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