Magnetic resonance findings in a neonate with nonketotic hyperglycinemia: case report.
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.
Culjat
Marko
M
Croatian Institute for Brain Research, School of Medicine, University of Zagreb, Zagreb, Croatia. markoculjat@yahoo.com
Benjak
Vesna
V
Dasovic-Buljevic
Andrea
A
Ozretic
David
D
Fumic
Ksenija
K
Acquaviva
Cécile
C
Baric
Ivo
I
D016880:Anisotropy; D038524:Diffusion Magnetic Resonance Imaging; D005260:Female; D005998:Glycine / Q000378:metabolism; D006801:Humans; D020158:Hyperglycinemia, Nonketotic / Q000378:metabolism / Q000473:pathology*; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy
D005998:Glycine