771
771
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第771章
DOI：
10.1097/01.ccm.0000551520.99228.47
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发表时间：
2019
影响因子：
8.8
通讯作者：
M. Miksa
中科院分区：
文献类型：
--
作者：
M. Miksa
研究方法：本病例报告介绍了一名5岁男性，患有已知的维生素A血症，自出生后不久开始服用特殊饮食（UCD anamix）和苯丁酸甘油酯。患者症状轻微，发育迟缓正常（基线改良兰金量表1）。他在恶心、呕吐、癫痫持续状态和姿势两天后进入PICU。他的头部CT显示明显的全身性脑水肿，他的氨水平最初为450 µmol/L。减压双额颅骨切除术不是一种选择，而是使用氨进行药物管理，并在脑实质内Raumedic ICP/tPbO 2监测仪的指导下使用高度协议化的ICP/CPP管理（基于神经重症监护协会标准）。在最初24小时内，ICP峰值达到40 mmHg，tPbO 2降至< 5。他被诱导进入戊巴比妥昏迷状态，并冷却到34度，持续2周，然后慢慢停止用药。就诊后3个月，他接受了神经病学诊所随访，能够用两种语言行走、交谈、书写和阅读，他保留了轻度震颤，随着时间的推移病情有所好转（mRS：2）。这一在患有严重高氨血症和脑水肿的儿童中的突出结果显示，特别是在UCD患者中，我们仍然不完全了解脑水肿、细胞内代谢和脑血管失调的潜在机制。因此，重要的是不要“放弃”，并退出最大的医疗管理，尽管长期ICP峰值主观可怕的预后。
Methods: This Case report presents a 5-year-old male with known argininemia, who was on special diet (UCD anamix) and glycerol phenylbutyrate since he presented shortly after birth. He had minimal symptoms and normal developmental delay (baseline modified Rankin Scale 1). He presented to the PICU after a two day history of nausea, vomiting, with status epilepticus and posturing. His CT head showed significant generalized cerebral edema and his ammonia level was initially 450 µmol/L. A decompressive bifrontal craniectomy was not an option, rather medical management with ammonul, and highly protocolized ICP/CPP management (based on the neurocritical care society standards) were used guided by a intraparenchymal Raumedic ICP/tPbO2 monitor). ICP spikes peaked at 40 mmHg and tPbO2 had dropped to< 5 in the initial 24 hrs. He was induced in a pentobarbital coma and cooled to 34 degrees for 2 weeks and then slowly weaned off medications. 3 months after presentation he presented to a neurology clinic followup and was able to walk, talk and write and read in two languages, He retained a mild tremor that has gotten better over time (mRS: 2).Results: This outstanding outcome in a child with severe hyperammonemia and cerebral edema that appeared refractory to treatment shows, that particularly in patients with UCD, we still do not fully understand the underlying mechanism of cerebral edema, intracellular metabolism, and cerebrovascular dysregulation. It is therefore important not to “give up” and withdraw from maximal medical management despite prolonged ICP peaks with subjective dire prognosis.