Horstmann M, Neumaier-Probst E, Lukacs Z, Steinfeld R, Ullrich K, Kohlschütter A
Children's Hospital, University Hospital Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany.
Neuropediatrics. 2003 Jun;34(5):261-4. doi: 10.1055/s-2003-43256.
A remarkable, intermittent sudden-onset vigilance and movement disorder in an exclusively breast-fed infant is reported, which was caused by cobalamin depletion due to maternal vitamin B12 malabsorption. The lack of cobalamin caused a severe encephalopathy in the infant, whose brain displayed a striking loss of volume and a delay of myelination. Proton magnetic resonance spectroscopy revealed an accumulation of lactate in the gray and white matter of the brain and a sustained depletion of choline-containing compounds in the white matter, reflecting a reversible disturbance of oxidative energy metabolism in brain cells and a long-lasting hypomyelination disorder. The clinical picture in conjunction with MRI and spectroscopic data of this case study yields more insight into the functions of cobalamin in the cerebral metabolism.
据报道，一名纯母乳喂养的婴儿出现了一种显著的、间歇性突发的警觉和运动障碍，这是由于母亲维生素B12吸收不良导致钴胺素缺乏所致。钴胺素缺乏导致婴儿出现严重的脑病，其大脑显示出明显的体积缩小和髓鞘形成延迟。质子磁共振波谱显示大脑灰质和白质中乳酸积累，白质中含胆碱化合物持续减少，这反映了脑细胞氧化能量代谢的可逆性紊乱和长期的髓鞘形成障碍。结合该病例研究的MRI和波谱数据的临床表现，能更深入地了解钴胺素在脑代谢中的作用。
