title: Magnetic resonance findings in a neonate with nonketotic hyperglycinemia: case report.
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.
authors.affiliation: Croatian Institute for Brain Research, School of Medicine, University of Zagreb, Zagreb, Croatia. markoculjat@yahoo.com
authors.forename: Marko
authors.initials: M
authors.lastname: Culjat
authors.forename: Vesna
authors.initials: V
authors.lastname: Benjak
authors.forename: Andrea
authors.initials: A
authors.lastname: Dasovic-Buljevic
authors.forename: David
authors.initials: D
authors.lastname: Ozretic
authors.forename: Ksenija
authors.initials: K
authors.lastname: Fumic
authors.forename: Cécile
authors.initials: C
authors.lastname: Acquaviva
authors.forename: Ivo
authors.initials: I
authors.lastname: Baric
mesh_terms: 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
chemical_list: D005998:Glycine