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: email@example.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.