Mattson L R, Lindor N M, Goldman D H, Goodwin J T, Groover R V, Vockley J
Department of Medical Genetics, Mayo Clinic, Rochester, MN 55905, USA.
Am J Med Genet. 1995 Jun 19;60(3):210-3. doi: 10.1002/ajmg.1320600308.
Central pontine myelinolysis (CPM) is a demyelinating condition of the central pons with or without associated foci of demyelination in extrapontine areas. We present a case of partial ornithine carbamoyl transferase deficiency in a 5-year-old girl which was complicated by CPM. The patient was a previously undiagnosed girl who presented with mild hyperammonemic encephalopathy with a maximum plasma ammonia level of 376 microM on admission. Laboratory testing established the diagnosis of OCT deficiency, and therapy with hydration and protein restriction was successful in returning the plasma ammonia levels to normal. Five days after correction of her hyperammonemia, the patient developed intractable seizures and coma. Serial MRI scans of the brain revealed the evolution of the characteristic findings of CPM. Plasma ammonia and electrolyte concentrations were well controlled throughout this time. This represents the first description of CPM in a patient with a urea cycle defect.
中央脑桥髓鞘溶解症（CPM）是一种中央脑桥的脱髓鞘疾病，可伴有或不伴有脑桥外区域的脱髓鞘病灶。我们报告一例5岁女孩部分鸟氨酸氨基甲酰转移酶缺乏症并发CPM的病例。该患者为一名此前未被诊断的女孩，入院时表现为轻度高氨血症性脑病，入院时血浆氨水平最高达376微摩尔/升。实验室检查确诊为鸟氨酸氨基甲酰转移酶缺乏症，通过补液和蛋白质限制治疗成功使血浆氨水平恢复正常。高氨血症纠正五天后，患者出现难治性癫痫和昏迷。脑部系列磁共振成像扫描显示了CPM特征性表现的演变。在此期间，血浆氨和电解质浓度得到良好控制。这是首次对患有尿素循环缺陷患者的CPM进行描述。
