Early prenatal magnetic resonance imaging of glutaric aciduria type 1: case report.
We report on a 22-week-gestation fetus, in which prenatal magnetic resonance (MR) imaging revealed findings suggestive of glutaric aciduria type 1, which was confirmed by postnatal biochemical and imaging data. Well-known postnatal MR imaging characteristics of glutaric aciduria type 1 (eg, reduction of the anterior pole of temporal lobes) could be already present at early stage of fetal brain development. Early prenatal MR imaging may play a pivotal role in the diagnostic workout of this condition.
Righini
Andrea
A
Radiology and Neuroradiology Department, Children's Hospital V. Buzzi, Milan, Italy. neurorad@icp.mi.it
Fiori
Laura
L
Parazzini
Cecilia
C
Doneda
Chiara
C
Arrigoni
Filippo
F
Riva
Enrica
E
Triulzi
Fabio
F
D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D054069:Multiple Acyl Coenzyme A Dehydrogenase Deficiency / Q000175:diagnosis* / Q000196:embryology*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D055815:Young Adult