Brockmann K, Pouwels P J, Christen H J, Frahm J, Hanefeld F
Abteilung Kinderheilkunde, Schwerpunkt Neuropädiatrie, Georg-August-Universität, Göttingen, Germany.
Neuropediatrics. 1996 Oct;27(5):242-8. doi: 10.1055/s-2007-973772.
Cerebral metabolic abnormalities in five children with infantile (1), late infantile (1), and juvenile (3) neuronal ceroid lipofuscinosis (NCL) were noninvasively assessed by localized proton magnetic resonance spectroscopy (MRS). Infantile NCL was characterized by a complete loss of N-acetylaspartate (NAA, neuronal marker), a marked reduction of creatines (Cr) and choline-containing compounds (Cho), and an elevation of myo-inositol (Ins, glial marker) and lactate (Lac) in both gray and white matter. Reduced NAA and elevated Lac were also detected in gray and white matter of late infantile NCL, but in this case not only Ins but also Cr and Cho were increased in white matter. In contrast to the infantile forms, juvenile NCL exhibited normal metabolic profiles. In one patient disease progression was indicated by reduced NAA and Cr in gray matter in a follow-up study after four years. The present findings in NCL are consistent with irreversible and generalized neuroaxonal loss as well as alterations of white matter glia similar to those found in leukodystrophies. The severity of metabolic disturbances correlates with clinical symptoms and decreasing age of onset.
采用局部质子磁共振波谱（MRS）对5例患有婴儿型（1例）、晚婴儿型（1例）和青少年型（3例）神经元蜡样脂褐质沉积症（NCL）的儿童的脑代谢异常进行了无创评估。婴儿型NCL的特征是N - 乙酰天门冬氨酸（NAA，神经元标志物）完全缺失，肌酸（Cr）和含胆碱化合物（Cho）显著减少，以及灰质和白质中肌醇（Ins，胶质细胞标志物）和乳酸（Lac）升高。在晚婴儿型NCL的灰质和白质中也检测到NAA减少和Lac升高，但在这种情况下，不仅白质中的Ins增加，Cr和Cho也增加。与婴儿型不同，青少年型NCL表现出正常的代谢谱。在一项随访研究中，4年后一名患者灰质中的NAA和Cr降低表明了疾病进展。NCL的当前研究结果与不可逆的全身性神经轴突丢失以及类似于脑白质营养不良中发现的白质胶质细胞改变一致。代谢紊乱的严重程度与临床症状和发病年龄降低相关。
