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題 名 | Magnetic Resonance Findings in an Infant with Nonketotic Hyperglycinemia=腦部氫質子磁振頻譜於非酮性高甘胺酸血症之嬰兒案例 |
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作 者 | 鍾維軒; 趙美琴; 林芳茹; 黎俊蔚; 曾紫綺; 曾臆倩; 趙垂勳; | 書刊名 | Journal of Radiological Science |
卷 期 | 36:3 2011.09[民100.09] |
頁 次 | 頁177-181 |
分類號 | 415.112、415.112 |
關鍵詞 | 非酮性高甘胺酸血症; 罕見疾病; 氫質子磁振技術; 嬰兒; |
語 文 | 英文(English) |
英文摘要 | 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. |
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