Skip Navigation LinksHome > September/October 2010 - Volume 34 - Issue 5 > Magnetic Resonance Findings in a Neonate With Nonketotic Hyp...
Journal of Computer Assisted Tomography:
doi: 10.1097/RCT.0b013e3181e846d7
Neuroradiology

Magnetic Resonance Findings in a Neonate With Nonketotic Hyperglycinemia: Case Report

Culjat, Marko MD*; Benjak, Vesna MD†; Dasovic-Buljevic, Andrea MD†; Ozretic, David MD‡; Fumic, Ksenija MD§; Acquaviva, Cécile MD∥; Baric, Ivo MD, PhD†

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Abstract

We present brain imaging and spectroscopy data in a neonate with a confirmed classic form of nonketotic hyperglycinemia (NKH), an autosomal-recessive metabolic disorder characterized by accumulation of glycine. To our knowledge, this is the first report of such complete analysis of the changes seen on conventional magnetic resonance imaging, diffusion-weighted imaging, and magnetic resonance spectroscopy at such an early age. The findings in a neonate are consistent with reports in older children with NKH, confirming that pathological changes typical for NKH can be seen in the first postnatal week.

© 2010 Lippincott Williams & Wilkins, Inc.

  

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