Nonketotic hyperglycinemia: spectrum of imaging findings with emphasis on diffusion-weighted imaging

The purpose of this study was to explore brain abnormalities in nonketotic hyperglycinemia (NKH) using diffusion-weighted imaging (DWI) and when feasible, diffusion tensor imaging (DTI) and tractography.

Seven patients with confirmed diagnosis of NKH (8 days-2 years) underwent brain MRI. Conventional T1 and T2WI were acquired in all patients, DWI in six and DTI and tractography in two (4 months and 2 years). Measurements of fractional anisotropy (FA), radial diffusivity (RD), axial diffusivity (AD) and Trace from eight white matter regions were compared between the two patients and age-matched controls. Tractography of corpus callosum, superior longitudinal fasciculus and corticospinal tracts was performed with extraction of their FA and diffusivity indices.

MRI showed nonspecific brain atrophy in three children. Corpus callosum atrophy was found as a part of these atrophic changes. Cerebellar vermian hypoplasia and supratentorial hydrocephalus were seen in one patient. The topographic distribution of diffusion restriction was different among patients. The affected white matter regions were not predominantly following the expected areas of myelination according to patients' age. Deep grey matter nuclei were affected in one patient. DTI revealed lower FA with higher RD in most of the measured white matter regions and tracts. These changes were more appreciated in the 2-year-old patient. However, Trace was higher in the 2-year-old patient and lower in the 4-month-old one. The extracted tracts were decreased in volume.

DWI, DTI and tractography with FA and diffusivity measurements can give insights into white matter microstructural alterations that can occur in NKH.