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Magnetic Resonance Findings in an Infant with Nonketotic Hyperglycinemia
並列摘要
Nonketotic hyperglycinemia (NKH) is a rare disease caused by defects in the glycine metabolism, leading to accumulation of excessive glycine in the body, CSF, and brain. We report an infant with NKH who presented with poor sucking power, hypothermia, hyperreflexia, and hypotonia soon after delivery at the gestational age of 38 weeks, and progressed to respiratory failure, coma, and seizures. The diagnosis of NKH was established by laboratory data showing marked elevation of glycine levels in the plasma, cerebrospinal fluid (CSF), and increased CSF/plasma ratio of glycine levels. Genetic analysis demonstrated a missense mutation of GLDC gene (Exon 19) derived from her mother. Magnetic resonance (MR) imaging of the brain performed at the age of 70 days demonstrated thinning of the corpus callosum, symmetric distribution of restricted diffusion and abnormal signals on T2-weighted images in the white matters. A glycine peak at 3.55ppm was depicted on proton magnetic resonance spectroscopy (1H-MRS) using time to echo of 144ms, supporting the clinical diagnosis of NKH. The combination of conventional, diffusion MR imaging, and 1H-MRS, can be helpful in identification of white matter abnormalities in patients with NKH.