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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

Journal of Computer Assisted Tomography: September/October 2010 - Volume 34 - Issue 5 - pp 762-765
doi: 10.1097/RCT.0b013e3181e846d7
Neuroradiology

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.

From the *Croatian Institute for Brain Research, School of Medicine, University of Zagreb; Departments of †Pediatrics and School of Medicine, ‡Radiology, and §Clinical Institute of Laboratory Diagnosis, Clinical Hospital Center Zagreb, Zagreb, Croatia; ∥Service Maladies Héréditaires du Métabolisme, Centre de Biologie Est - Groupement Hospitalier Est, Bron, France.

Received for publication May 10, 2010; accepted May 11, 2010.

Reprints: Marko Culjat, MD, Croatian Institute for Brain Research, School of Medicine, University of Zagreb, Salata 12, 10000 Zagreb, Croatia (e-mail: markoculjat@yahoo.com).

This work was supported by grant 108-1081870-1885 of Ministry of Science, Education and Sport of Republic of Croatia (I.B.), and Unity through Knowledge Fund 1B Grant Agreement No. 06/07.

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