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Early prenatal magnetic resonance imaging of glutaric aciduria type 1: case report.

作者信息

Righini Andrea, Fiori Laura, Parazzini Cecilia, Doneda Chiara, Arrigoni Filippo, Riva Enrica, Triulzi Fabio

机构信息

Radiology and Neuroradiology Department, Children's Hospital V. Buzzi, Milan, Italy.

出版信息

J Comput Assist Tomogr. 2010 May-Jun;34(3):446-8. doi: 10.1097/RCT.0b013e3181cd7c89.

Abstract

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.

摘要

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