Broomfield A, Gunny R, Prabhakar P, Grunewald S
Department of Metabolic Disease, Great Ormond Street Hospital with UCL Institute of Child Health, London, UK.
Neuropediatrics. 2010 Dec;41(6):256-60. doi: 10.1055/s-0031-1273720. Epub 2011 Mar 28.
Basal ganglia lesions are a well reported feature of acute decompensation in propionic acidemia; however, their underlying causation still needs to be fully elucidated. We report an 8-month-old infant whose lesions had almost completely resolved radiologically within 3 weeks of initial presentation without specific metabolic management and in light of this, we discuss the current thinking on their pathogenesis.
基底神经节病变是丙酸血症急性失代偿的一个有充分报道的特征；然而，其潜在病因仍需充分阐明。我们报告了一名8个月大的婴儿，其病变在初次就诊后3周内几乎完全在影像学上消退，且未进行特殊的代谢管理。鉴于此，我们讨论了目前对其发病机制的认识。
