1 病例资料 女,5 月 13 日龄,因"腹胀、腹泻 15 d"第一次收入济南市儿童医院(我院),大便为黄绿色稀便,每天 8～10 次,入院后出现发热,体温最高 38.4℃. 此后分别于 9 月 23 日龄和1 岁 8 月龄因消化道症状再次入我院. 患儿重要临床信息时间轴见图 1.

Mannose phosphate isomerase-congenital disorders of glycosylation (MPI-CDG) is a treatable congenital genetic metabolic disease caused by the pathogenic variation of the gene encoding MPI.It is mainly manifested as diarrhea, hepatomegaly, hypoglycemia, and coagulation dysfunction.This review described the pathogenesis, clinical manifestations, genotypes, diagnosis, treatment and management of MPI-CDG, aiming to enhance the understanding of MPI-CDG.

目的:探讨暴发型肝豆状核变性的临床特点及治疗方法。方法:回顾性分析山东大学齐鲁儿童医院PICU收治的2例暴发型肝豆状核变性病例的临床资料、实验室检查及诊治经过。结果:2例患儿均为女性，分别12岁、10岁，均以近期出现皮肤黄染为主要表现，眼科查体见K-F环，出现胆酶分离现象，直接胆红素升高为主，谷氨酰转肽酶升高而碱性磷酸酶正常范围，血铜蓝蛋白降低，尿铜升高，合并溶血性贫血，诊断明确后均予血浆置换、输注血制品，糖皮质激素，驱铜，锌剂、钙剂等治疗，病例1住院治疗14 d自动出院，出院后1个月死亡，病例2病程第7天行肝移植治疗，随访1个月病情稳定。结论:患儿出现胆酶分离现象，胆红素升高以直接胆红素为主，谷氨酰转肽酶明显升高而碱性磷酸酶正常范围，尤其合并溶血性贫血时需注意暴发型肝豆状核变性的可能，尽快完善角膜K-F环、血清铜蓝蛋白、24小时尿铜、 ATP7B基因等检查，及时予血浆置换，驱铜、锌剂、钙剂，糖皮质激素等治疗，必要时行肝移植。

Objective:To analyze the clinical value of continuous venovenous hemofiltration (CVVH) in the treatment of severe hand, foot, and mouth disease (HFMD).Methods:A total of 55 hospitalized patients of severe HFMD in the hospital from 2014 to 2017 was retrospectively collected. The cases were divided into CVVH group ( n=23) and control group ( n=32). The control group received treatments of immunoglobulin, dexamethasone, mannitol and vasoactive agents, including milrinone and esmolol as well as ventilator ventilation. The CVVH group was treated with continuous hemofiltration on the basis of above-mentioned treatments. The differences of body temperature, heart rate, blood pressure and peripheral blood leucocyte, blood glucose and lactate between the two groups at the third day and the fifth day of treatment were compared, and the progression, mortality and incidence of complications in the two groups were also analyzed. Results:Fifteen cases in control group and 2 cases in CVVH developed into stage 4. The difference was statistically significant ( x2=13.049, P<0.01). There were 2 case in Group CVVH and 7 cases in control group under critical conditions died because of parents’ giving-up treatment. There was no significant difference between the two groups ( x2=0.872, P=0.350). There was no statistically significant difference in heart rate, blood pressure and peripheral white blood cell, blood sugar, and lactate between the two groups at the third day and the fifth day of treatment ( P>0.05). Conclusions:Continuous hemofiltration can effectively block the progress of the disease from stage 3 to stage 4 and will shorten time of ventilator ventilation.

目的 总结金黄色葡萄球菌软组织感染的临床特点,以提高诊治水平.方法 回顾性分析山东大学齐鲁儿童医院PICU自2019年1月—6月收治的3例金黄色葡萄球菌软组织感染患儿的临床资料.结果 3例患儿中,男1例,女2例,年龄1岁～9岁,平均年龄4.8岁,平均住院63.7天,均合并不同程度的脏器损害.3例患儿均在积极应用利奈唑胺、万古霉素等抗感染的前提下,给予反复外科清创处理,但均留下了不同程度的疤痕,需后续整形治疗.结论 金黄色葡萄球菌导致的软组织感染临床症状重,可合并严重脓毒症、重症肺部感染、多脏器功能障碍,单纯抗感染治疗效果欠佳,及时、有效的清创治疗至关重要.

目的:分析振幅整合脑电图在PICU脑损伤患儿预后评估中的临床价值。方法:回顾性分析2017年6月至2018年12月因意识障碍、惊厥于济南市儿童医院儿童重症医学科住院患儿的振幅整合脑电图资料。结果:两部分分别有102例、44例患儿纳入研究。对照组A 82例患儿中55例(67.1%)预后良好，27例(32.9%)预后不良，观察组A 20例患儿中1例(5%)预后良好，19例(95%)预后不良，两组差异有统计学意义( χ2＝25.021， P<0.01)。对照组B 26例患儿中18例(69.2%)预后良好，8例(30.8%)预后不良，观察组B 18例患儿中9例(50%)预后良好，9例(50%)预后不良，两组差异无统计学意义( χ2＝1.659， P＝0.198)。82例患儿入院后振幅整合脑电图检查提示连续正常电压、不连续正常电压，但是其中27例(32.9%)病情逐渐进展，最终出现脑死亡、昏迷或植物状态、严重残疾。 结论:暴发-抑制、持续低电压、电静止多提示不良预后，死亡风险高；长程或动态监测振幅整合脑电图有助于筛选预后不良的病例，指导合理利用医疗资源；癫痫持续状态在预后评估中的作用有待进一步明确。