title: Nonketotic hyperglycinemia: diffusion magnetic resonance imaging findings.
abstract: We report about a boy with nonketotic hyperglycinemia who was studied at 15 days of life with a follow-up examination at age 6 months. Magnetic resonance (MR) imaging revealed progressive atrophy, callosal thinning, and delayed myelination. Glycine peaks were shown by proton MR spectroscopy at 3.56 ppm with a long echo time (TE, 135 milliseconds; TR, 1500 milliseconds). Echo-planar diffusion MR imaging (TR, 5700 milliseconds; TE, 139 milliseconds) at 15 days of life revealed high-signal lesions in the pyramidal tracts, middle cerebellar pedicles, and dentate nuclei on b = 1000 s/mm2 images associated with low apparent diffusion coefficient (ADC) values. By age 6 months, the lesions became more prominent on b = 1000 s/mm2 images with lower ADC values. Diffusion MR imaging findings likely reflected the histopathologic changes of the disease which consisted of spongiosis of the myelinated brain tissue due to myelin vacuolation.
authors.affiliation: Department of Radiology, Ege University Hospital, Bornova, Izmir 35100, Turkey. rnsener@hotmail.com
authors.forename: R Nuri
authors.initials: RN
authors.lastname: Sener
mesh_terms: D001284:Atrophy; D001921:Brain / Q000473:pathology*; D038524:Diffusion Magnetic Resonance Imaging; D018450:Disease Progression; D006801:Humans; D020158:Hyperglycinemia, Nonketotic / Q000473:pathology*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009186:Myelin Sheath