Righini Andrea, Fiori Laura, Parazzini Cecilia, Doneda Chiara, Arrigoni Filippo, Riva Enrica, Triulzi Fabio
Radiology and Neuroradiology Department, Children's Hospital V. Buzzi, Milan, Italy.
J Comput Assist Tomogr. 2010 May-Jun;34(3):446-8. doi: 10.1097/RCT.0b013e3181cd7c89.
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.