Prenatal diagnosis of hypoplasia of the corpus callosum in association with non-ketotic hyperglycinemia.
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.
Paupe
A
A
Sevice de Pédiatrie et Médecine Néonatale, Centre Hospitalier Poissy-St. Germain, Paris, France. apaupe@chi-poissy-st-germain.fr
Bidat
L
L
Sonigo
P
P
Lenclen
R
R
Molho
M
M
Ville
Y
Y
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000000981:diagnostic imaging; D061085:Agenesis of Corpus Callosum; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000000981:diagnostic imaging; D004569:Electroencephalography / Q000379:methods; D017809:Fatal Outcome; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000000981:diagnostic imaging; D005998:Glycine / Q000097:blood; D006801:Humans; D020158:Hyperglycinemia, Nonketotic / Q000175:diagnosis* / Q000000981:diagnostic imaging; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D016216:Ultrasonography, Prenatal / Q000379:methods
D005998:Glycine