Cardenas Javier F, Bodensteiner John B
Division of Child Neurology, Barrow Neurological Institute, and St. Joseph's Hospital and Medical Center, Phoenix, Arizona, USA.
J Child Neurol. 2009 Jul;24(7):884-6. doi: 10.1177/0883073808331349. Epub 2009 Feb 18.
A 7-year-old female patient with a new diagnosis of ornithine transcarbamylase deficiency was treated for hyperammonemia with a standard protocol. Several days later, she developed ataxia, dysmetria, and dysarthria. Magnetic resonance imaging of the brain demonstrated pontine and extrapontine white matter changes consistent with osmotic demyelination. Classically described as a consequence of hyponatremia treatment, osmotic demyelination syndrome has rarely been associated with other entities. This case suggests a potentially serious complication of the standard therapy for hyperammonemia in patients with ornithine transcarbamylase deficiency.
一名新诊断为鸟氨酸转氨甲酰酶缺乏症的7岁女性患者，按照标准方案接受高氨血症治疗。几天后，她出现共济失调、辨距不良和构音障碍。脑部磁共振成像显示脑桥和脑桥外白质改变，符合渗透性脱髓鞘。渗透性脱髓鞘综合征通常被描述为低钠血症治疗的结果，很少与其他情况相关。该病例提示鸟氨酸转氨甲酰酶缺乏症患者高氨血症标准治疗可能存在严重并发症。
