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如第三脑室前部和下视丘、漏斗部受累,可出现各种内分泌功能紊乱,例如青春早熟或落后和生长矮小等。
[ { "id": 0, "entity": "青春早熟或落后和生长矮小", "start_offset": 33, "end_offset": 45, "label": "sym" } ]
原发症征候,如松果体肿瘤的上视不能,小脑蚓部肿瘤的共济失调等。
[ { "id": 0, "entity": "松果体肿瘤的上视不能,小脑蚓部肿瘤的共济失调", "start_offset": 7, "end_offset": 29, "label": "sym" } ]
对于早期、发展缓慢或不适于手术治疗的脑积水患儿,则以药物治疗为主,可酌情选用脱水或利尿药。
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小儿脑积水分流术的开展,不仅增加了脑积水患儿的存活率,并使70%的患儿保持智力基本正常。
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颅内脑脊液分流术适用于阻塞性脑积水,如侧脑室-小脑延髓池分流术以及第三脑室造瘘术等。
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颅外脑脊液分流术适用于各型脑积水,方法很多,包括将脑脊液引流至心血管的手术及引流至其他脏器或体腔的手术,前者常用脑室-心房分流术,后者常用侧脑室-腹腔分流术。
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分流术后尽管头围停止过快增长而进入正常曲线,仍需用头颅CT或MRI定期观察脑室大小及脑皮质厚度,以防持续存在的轻度颅内高压压迫脑皮质而造成智力发育障碍。
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有癫痫发作者,给予抗癫痫药物治疗。
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经过手术治疗的脑积水患儿,存活率至少在90%,大约2/3智商正常或接近正常。
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当然,脑积水患儿的神经功能障碍与脑积水的严重程度成正比,如大脑皮质厚度小于1cm,即使脑积水得到控制,也会有神经功能障碍及智力发育障碍。
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WD儿童期的表现主要包括慢性肝炎、无症状性肝硬化或急性肝衰竭;青年期的表现以神经精神症状为主,包括肌张力障碍、震颤、性格改变及认知障碍。
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肝细胞癌变在WD中较为罕见。
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晚期有持久性、全身性扭转痉挛,病程进展较成年型明显加快。
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精神症状包括行为异常、人格改变、抑郁和认知障碍等精神分裂症状。
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由于这些症状由铜沉积于中枢神经系统所致,因此我们必须对所有疑为WD的患者进行检查,早期诊断、早期治疗,从而使病情快速、全面恢复。
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大多数有神经系统症状的儿童有K-F环,但以肝损为表现的儿童可以无K-F环。
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WD基因的产物(ATP7B)是一种含有1411个氨基酸的铜转运P型ATP酶(即WD蛋白)。
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曲恩汀的不良反应小,主要毒性是骨髓抑制、肾毒性、皮肤黏膜病变及缺铁性贫血。
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其他排铜药物:二巯基丙醇(因副作用大已少用)、二巯基丁二酸钠、二巯基丁二酸胶囊以及二巯基丙磺酸钠等重金属离子鳌合剂。
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②肌张力障碍,可选用苯海索。
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③舞蹈样动作和手足徐动症可选用地西泮,也可选用小量氟哌啶醇合用苯海索。
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扭转痉挛、强直或痉挛性斜颈为主者,除上述药物外,还可选用氯硝西泮或巴氯芬5mg,每日2次开始,逐渐加至10~20mg,每日3次。
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④精神症状可选用奋乃静或利培酮。
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⑤绝大多数患者需要长期护肝治疗。
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病原体可侵犯体内各种器官,但病理改变主要见于中枢神经系统,通常表现为进行性加重的慢性或亚急性脑病。
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自1969年首次证实本病系麻疹病毒所致以来,经大量研究目前临床表现也已得到充分的认识,已经确定麻疹病毒是SSPE的病原,但麻疹病毒在脑内持续存在的原因尚不完全清楚。
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由于引起SSPE的并不是完整的麻疹病毒颗粒,所以一般不具有传染性。
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由于损毁性病变而引起的特征性锥体外系症状,如舞蹈手足徐动症等开始出现。
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出现明显的长束性感觉和运动障碍,智力明显恶化,提示大脑皮层灰质开始了破坏性变化。
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儿童组织细胞增生症是一组临床表现差异极大、发病率又较低的疾病。
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临床诊断及治疗较为困难,其中大部分为非肿瘤性疾病,但习惯上这一组疾病由血液/肿瘤科医生诊治。
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组织细胞增生症Ⅱ型中的组织细胞主要为噬血性巨噬细胞,又称噬血性组织细胞增生症,包括家族性(原发性)和继发性两大类。
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1953年Lichtenstein将一组组织细胞浸润为主的疾病命名为组织细胞增生症X,X的含义为“不知原因”。
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肺部受累重者可见气喘和发绀。
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受累器官少的、即使年龄较小亦有自然痊愈的可能,尤其是单纯皮肤浸润,对化疗反应好的预后亦佳。
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婴儿型脚气病多发生于数个月的婴儿,发病急、突然,较成人型难以捉摸,可出现多种临床表现,但以心血管症状占优势。
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脑型表现主要为发作型哭叫似腹痛状,烦躁不安,前囟饱满,头后仰。
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严重者可发生脑充血、颅内高压、昏迷而死亡。
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神经炎主要表现为周围性瘫痪,早期表现为四肢无力,其后症状加重,同时足趾的背屈运动受限。
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软腭反射障碍,吃奶出现呛咳,吞咽困难。
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当病变自肺播散到中枢神经系统时才被检出。
[ { "id": 0, "entity": "肺", "start_offset": 4, "end_offset": 5, "label": "bod" }, { "id": 1, "entity": "中枢神经系统", "start_offset": 8, "end_offset": 14, "label": "bod" } ]
体格检查较少出现典型的肺炎体征。
[ { "id": 0, "entity": "体格检查", "start_offset": 0, "end_offset": 4, "label": "pro" }, { "id": 1, "entity": "肺炎", "start_offset": 11, "end_offset": 13, "label": "dis" } ]
隐球菌感染发生在肺门或纵隔淋巴结的不常见。
[ { "id": 0, "entity": "隐球菌感染", "start_offset": 0, "end_offset": 5, "label": "dis" }, { "id": 1, "entity": "肺门", "start_offset": 8, "end_offset": 10, "label": "bod" }, { "id": 2, "entity": "纵隔淋巴结", "start_offset": 11, "end_offset": 16, "label": "bod" } ]
尽管隐球菌脑膜炎可急性发作,但更常见的是出现无症状期,病程缓慢,以后逐渐出现症状。
[ { "id": 0, "entity": "隐球菌脑膜炎", "start_offset": 2, "end_offset": 8, "label": "dis" }, { "id": 1, "entity": "病程缓慢", "start_offset": 27, "end_offset": 31, "label": "sym" } ]
可能有脑膜炎、脑膜脑炎、脑或脊髓肉芽肿或占位性病变的特点。
[ { "id": 0, "entity": "脑膜炎", "start_offset": 3, "end_offset": 6, "label": "dis" }, { "id": 1, "entity": "脑膜脑炎", "start_offset": 7, "end_offset": 11, "label": "dis" }, { "id": 2, "entity": "脑或脊髓肉芽肿", "start_offset": 12, "end_offset": 19, "label": "dis" }, { "id": 3, "entity": "占位性病变", "start_offset": 20, "end_offset": 25, "label": "dis" } ]
接受肾上腺皮质类固醇和化疗的恶性肿瘤患者可能病情进展较快。
[ { "id": 0, "entity": "肾上腺皮质类固醇", "start_offset": 2, "end_offset": 10, "label": "dru" }, { "id": 1, "entity": "恶性肿瘤", "start_offset": 14, "end_offset": 18, "label": "dis" } ]
最常见的症状有发热,热型不规则;头痛,为额颞部头痛,偶有枕部疼痛,初为间歇性,逐渐发展为持续性并加重;伴恶心和呕吐、精神状态的改变、惊厥、颅压增高的体征;出现脑膜刺激征。
[ { "id": 0, "entity": "发热,热型不规则", "start_offset": 7, "end_offset": 15, "label": "sym" }, { "id": 1, "entity": "头痛", "start_offset": 16, "end_offset": 18, "label": "sym" }, { "id": 2, "entity": "额颞部头痛", "start_offset": 20, "end_offset": 25, "label": "dis" }, { "id": 3, "entity": "枕部疼痛", "start_offset": 28, "end_offset": 32, "label": "dis" }, { "id": 4, "entity": "初为间歇性,逐渐发展为持续性并加重", "start_offset": 33, "end_offset": 50, "label": "sym" }, { "id": 5, "entity": "恶心", "start_offset": 52, "end_offset": 54, "label": "sym" }, { "id": 6, "entity": "呕吐", "start_offset": 55, "end_offset": 57, "label": "sym" }, { "id": 7, "entity": "精神状态的改变", "start_offset": 58, "end_offset": 65, "label": "sym" }, { "id": 8, "entity": "惊厥", "start_offset": 66, "end_offset": 68, "label": "sym" }, { "id": 9, "entity": "颅压增高", "start_offset": 69, "end_offset": 73, "label": "sym" } ]
其疗效与两性霉素B相同而毒性较小,可与两性霉素B联合应用,是治疗隐球菌性脑膜炎的金标准治疗方案,可减少隐球菌的耐药性。
[ { "id": 0, "entity": "两性霉素B", "start_offset": 4, "end_offset": 9, "label": "dru" }, { "id": 1, "entity": "两性霉素B", "start_offset": 19, "end_offset": 24, "label": "dru" }, { "id": 2, "entity": "隐球菌性脑膜炎", "start_offset": 32, "end_offset": 39, "label": "dis" }, { "id": 3, "entity": "隐球菌", "start_offset": 51, "end_offset": 54, "label": "mic" } ]
两性霉素B的剂量较常用剂量减少1/3~1/2,一般疗程为6周或3个月以上。
[ { "id": 0, "entity": "两性霉素B", "start_offset": 0, "end_offset": 5, "label": "dru" } ]
病初阶段与两性霉素B联合应用能更快使脑脊液转阴,并减少两性霉素B的用量和毒副作用,是治疗中枢神经系统隐球菌病的首选药物之一。
[ { "id": 0, "entity": "两性霉素B", "start_offset": 5, "end_offset": 10, "label": "dru" }, { "id": 1, "entity": "脑脊液", "start_offset": 18, "end_offset": 21, "label": "bod" }, { "id": 2, "entity": "两性霉素B", "start_offset": 27, "end_offset": 32, "label": "dru" }, { "id": 3, "entity": "中枢神经系统隐球菌病", "start_offset": 44, "end_offset": 54, "label": "dis" } ]
艾滋病患者并发隐球菌性脑膜炎者,预后极差。
[ { "id": 0, "entity": "艾滋病", "start_offset": 0, "end_offset": 3, "label": "dis" }, { "id": 1, "entity": "隐球菌性脑膜炎", "start_offset": 7, "end_offset": 14, "label": "dis" } ]
完全性肺静脉异位连接病人除了肺静脉开口异常外,还包括心房水平的右向左分流,如卵圆孔未闭、房间隔缺损。
[ { "id": 0, "entity": "完全性肺静脉异位连接", "start_offset": 0, "end_offset": 10, "label": "dis" }, { "id": 1, "entity": "肺静脉", "start_offset": 14, "end_offset": 17, "label": "bod" }, { "id": 2, "entity": "心房", "start_offset": 26, "end_offset": 28, "label": "bod" }, { "id": 3, "entity": "房间隔缺损", "start_offset": 44, "end_offset": 49, "label": "dis" } ]
在出生后数周,由于肺血流增多,开始出现心功能不全症状,如喂养困难、呼吸急促、体重不增、反复肺部感染。
[ { "id": 0, "entity": "肺血流", "start_offset": 9, "end_offset": 12, "label": "bod" }, { "id": 1, "entity": "心功能不全", "start_offset": 19, "end_offset": 24, "label": "dis" }, { "id": 2, "entity": "喂养困难", "start_offset": 28, "end_offset": 32, "label": "sym" }, { "id": 3, "entity": "呼吸急促", "start_offset": 33, "end_offset": 37, "label": "sym" }, { "id": 4, "entity": "体重不增", "start_offset": 38, "end_offset": 42, "label": "sym" }, { "id": 5, "entity": "肺部", "start_offset": 45, "end_offset": 47, "label": "bod" }, { "id": 6, "entity": "反复肺部感染", "start_offset": 43, "end_offset": 49, "label": "sym" } ]
体格检查示小儿瘦小、易激惹。
[ { "id": 0, "entity": "体格检查", "start_offset": 0, "end_offset": 4, "label": "pro" }, { "id": 1, "entity": "小儿瘦小", "start_offset": 5, "end_offset": 9, "label": "sym" }, { "id": 2, "entity": "易激惹", "start_offset": 10, "end_offset": 13, "label": "sym" } ]
心下型患者,吮吸、哭吵用力时腹内压升高,肺静脉血流受阻加剧,青紫及呼吸困难加重。
[ { "id": 0, "entity": "吮吸、哭吵用力时腹内压升高", "start_offset": 6, "end_offset": 19, "label": "sym" }, { "id": 1, "entity": "青紫及呼吸困难加重", "start_offset": 30, "end_offset": 39, "label": "sym" } ]
合并肺静脉梗阻或存在限制性心房水平交通者,甚至可于出生后数周内夭折。
[ { "id": 0, "entity": "肺静脉梗阻", "start_offset": 2, "end_offset": 7, "label": "dis" }, { "id": 1, "entity": "心房", "start_offset": 13, "end_offset": 15, "label": "bod" }, { "id": 2, "entity": "夭折", "start_offset": 31, "end_offset": 33, "label": "sym" } ]
手术后期疗效大多良好。
[ { "id": 0, "entity": "手术", "start_offset": 0, "end_offset": 2, "label": "pro" } ]
目前采用较多的是4型分类:①运动障碍样型;②反流样型;③溃疡样型;④非特异型。
[ { "id": 0, "entity": "运动障碍", "start_offset": 14, "end_offset": 18, "label": "dis" }, { "id": 1, "entity": "反流", "start_offset": 22, "end_offset": 24, "label": "dis" }, { "id": 2, "entity": "溃疡", "start_offset": 28, "end_offset": 30, "label": "dis" } ]
有些患儿根据医生诊断得知无病及检查结果亦属正常后,可通过改变生活方式与调整食物种类来预防。
[ { "id": 0, "entity": "改变生活方式", "start_offset": 28, "end_offset": 34, "label": "pro" }, { "id": 1, "entity": "调整食物种类", "start_offset": 35, "end_offset": 41, "label": "pro" } ]
经过初步检查之后,应与患者讨论鉴别诊断,包括功能性消化不良的可能。
[ { "id": 0, "entity": "功能性消化不良", "start_offset": 22, "end_offset": 29, "label": "dis" } ]
主要有西咪替丁、雷尼替丁及法莫替丁等。
[ { "id": 0, "entity": "西咪替丁", "start_offset": 3, "end_offset": 7, "label": "dru" }, { "id": 1, "entity": "雷尼替丁", "start_offset": 8, "end_offset": 12, "label": "dru" }, { "id": 2, "entity": "法莫替丁", "start_offset": 13, "end_offset": 17, "label": "dru" } ]
我国儿童癫痫年发病率的报道较少,多数儿童病例在10岁之前发病,其中生后头1年发病率最高,随着年龄的增长,发病率有所下降。
[ { "id": 0, "entity": "儿童癫痫", "start_offset": 2, "end_offset": 6, "label": "dis" } ]
原发性癫痫可表现为全身性发作或部分性发作,但全身性癫痫的遗传性因素高于部分性癫痫。
[ { "id": 0, "entity": "原发性癫痫", "start_offset": 0, "end_offset": 5, "label": "dis" }, { "id": 1, "entity": "全身性发作", "start_offset": 9, "end_offset": 14, "label": "sym" }, { "id": 2, "entity": "部分性发作", "start_offset": 15, "end_offset": 20, "label": "sym" }, { "id": 3, "entity": "全身性癫痫", "start_offset": 22, "end_offset": 27, "label": "dis" }, { "id": 4, "entity": "部分性癫痫", "start_offset": 35, "end_offset": 40, "label": "dis" } ]
小儿症状性癫痫常见病因有脑发育异常如脑回畸形及灰质异位;各种原因导致的脑损伤如围生期损伤、中枢神经系统感染或后遗症、头部外伤、中毒、水电解质紊乱、内分泌功能紊乱、低血糖以及维生素缺乏等;脑血管病变如颅内出血、血管内膜炎、血栓、梗死和血管畸形等;以及其他代谢性、脑变性和全身性疾病;另外一些与遗传有关的代谢性疾病及综合征常合并癫痫如神经皮肤综合征(常见结节性硬化、多发性神经纤维瘤病和脑三叉神经血管瘤病)、Rett综合征、Angelman综合征、线粒体脑病以及假性甲状旁腺功能低下等均可有癫痫发作。
[ { "id": 0, "entity": "小儿症状性癫痫", "start_offset": 0, "end_offset": 7, "label": "dis" }, { "id": 1, "entity": "脑", "start_offset": 12, "end_offset": 13, "label": "bod" }, { "id": 2, "entity": "脑发育异常", "start_offset": 12, "end_offset": 17, "label": "sym" }, { "id": 3, "entity": "脑回畸形", "start_offset": 18, "end_offset": 22, "label": "sym" }, { "id": 4, "entity": "灰质异位", "start_offset": 23, "end_offset": 27, "label": "sym" }, { "id": 5, "entity": "脑损伤", "start_offset": 35, "end_offset": 38, "label": "sym" }, { "id": 6, "entity": "围生期损伤", "start_offset": 39, "end_offset": 44, "label": "sym" }, { "id": 7, "entity": "中枢神经系统感染", "start_offset": 45, "end_offset": 53, "label": "sym" }, { "id": 8, "entity": "后遗症", "start_offset": 54, "end_offset": 57, "label": "sym" }, { "id": 9, "entity": "头部外伤", "start_offset": 58, "end_offset": 62, "label": "sym" }, { "id": 10, "entity": "中毒", "start_offset": 63, "end_offset": 65, "label": "sym" }, { "id": 11, "entity": "水电解质紊乱", "start_offset": 66, "end_offset": 72, "label": "sym" }, { "id": 12, "entity": "内分泌功能紊乱", "start_offset": 73, "end_offset": 80, "label": "sym" }, { "id": 13, "entity": "低血糖", "start_offset": 81, "end_offset": 84, "label": "sym" }, { "id": 14, "entity": "维生素缺乏", "start_offset": 86, "end_offset": 91, "label": "sym" }, { "id": 15, "entity": "脑血管病变", "start_offset": 93, "end_offset": 98, "label": "dis" }, { "id": 16, "entity": "颅内出血", "start_offset": 99, "end_offset": 103, "label": "sym" }, { "id": 17, "entity": "血管内膜炎", "start_offset": 104, "end_offset": 109, "label": "dis" }, { "id": 18, "entity": "血栓", "start_offset": 110, "end_offset": 112, "label": "dis" }, { "id": 19, "entity": "梗死", "start_offset": 113, "end_offset": 115, "label": "dis" }, { "id": 20, "entity": "血管畸形", "start_offset": 116, "end_offset": 120, "label": "dis" }, { "id": 21, "entity": "代谢性、脑变性和全身性疾病", "start_offset": 126, "end_offset": 139, "label": "dis" }, { "id": 22, "entity": "代谢性疾病", "start_offset": 150, "end_offset": 155, "label": "dis" }, { "id": 23, "entity": "综合征", "start_offset": 156, "end_offset": 159, "label": "dis" }, { "id": 24, "entity": "癫痫", "start_offset": 162, "end_offset": 164, "label": "dis" }, { "id": 25, "entity": "神经皮肤综合征", "start_offset": 165, "end_offset": 172, "label": "dis" }, { "id": 26, "entity": "结节性硬化", "start_offset": 175, "end_offset": 180, "label": "dis" }, { "id": 27, "entity": "多发性神经纤维瘤病", "start_offset": 181, "end_offset": 190, "label": "dis" }, { "id": 28, "entity": "脑三叉神经血管瘤病", "start_offset": 191, "end_offset": 200, "label": "dis" }, { "id": 29, "entity": "Rett综合征", "start_offset": 202, "end_offset": 209, "label": "dis" }, { "id": 30, "entity": "Angelman综合征", "start_offset": 210, "end_offset": 221, "label": "dis" }, { "id": 31, "entity": "线粒体脑病", "start_offset": 222, "end_offset": 227, "label": "dis" }, { "id": 32, "entity": "假性甲状旁腺功能低下", "start_offset": 229, "end_offset": 239, "label": "sym" }, { "id": 33, "entity": "癫痫", "start_offset": 243, "end_offset": 245, "label": "dis" } ]
③自主神经症状:呼吸暂停、呼吸节律改变、发绀、面色苍白、潮红、流涎及呕吐。
[ { "id": 0, "entity": "呼吸暂停", "start_offset": 8, "end_offset": 12, "label": "sym" }, { "id": 1, "entity": "呼吸节律改变", "start_offset": 13, "end_offset": 19, "label": "sym" }, { "id": 2, "entity": "发绀", "start_offset": 20, "end_offset": 22, "label": "sym" }, { "id": 3, "entity": "面色苍白", "start_offset": 23, "end_offset": 27, "label": "sym" }, { "id": 4, "entity": "潮红", "start_offset": 28, "end_offset": 30, "label": "sym" }, { "id": 5, "entity": "流涎", "start_offset": 31, "end_offset": 33, "label": "sym" }, { "id": 6, "entity": "呕吐", "start_offset": 34, "end_offset": 36, "label": "sym" } ]
④惊厥性症状:表现为眨眼、眼球震颤或口角抽动、扭转或姿势性强直、局部肢体轻微阵挛,与年长儿相比,发作较轻。
[ { "id": 0, "entity": "眨眼", "start_offset": 10, "end_offset": 12, "label": "sym" }, { "id": 1, "entity": "眼球震颤", "start_offset": 13, "end_offset": 17, "label": "sym" }, { "id": 2, "entity": "口角抽动", "start_offset": 18, "end_offset": 22, "label": "sym" }, { "id": 3, "entity": "扭转", "start_offset": 23, "end_offset": 25, "label": "sym" }, { "id": 4, "entity": "姿势性强直", "start_offset": 26, "end_offset": 31, "label": "sym" }, { "id": 5, "entity": "局部肢体轻微阵挛", "start_offset": 32, "end_offset": 40, "label": "sym" } ]
有时表现为轴性强直,头、颈后仰,躯干极度伸展呈角弓反张;有时表现为“球样强直发作”,低头、弯腰、双上臂举起及屈肘,持续2~3秒,站立时发作会摔倒;有时轻微的强直发作,表现为眼球上转、眨眼或眼球震颤,称为“强直性眼球震颤”。
[ { "id": 0, "entity": "轴性强直", "start_offset": 5, "end_offset": 9, "label": "sym" }, { "id": 1, "entity": "头", "start_offset": 10, "end_offset": 11, "label": "bod" }, { "id": 2, "entity": "颈", "start_offset": 12, "end_offset": 13, "label": "bod" }, { "id": 3, "entity": "头、颈后仰", "start_offset": 10, "end_offset": 15, "label": "sym" }, { "id": 4, "entity": "躯干极度伸展呈角弓反张", "start_offset": 16, "end_offset": 27, "label": "sym" }, { "id": 5, "entity": "“球样强直发作”", "start_offset": 33, "end_offset": 41, "label": "sym" }, { "id": 6, "entity": "摔倒", "start_offset": 70, "end_offset": 72, "label": "sym" }, { "id": 7, "entity": "眼球上转", "start_offset": 86, "end_offset": 90, "label": "sym" }, { "id": 8, "entity": "眨眼", "start_offset": 91, "end_offset": 93, "label": "sym" }, { "id": 9, "entity": "眼球震颤", "start_offset": 94, "end_offset": 98, "label": "sym" }, { "id": 10, "entity": "“强直性眼球震颤”", "start_offset": 101, "end_offset": 110, "label": "sym" } ]
预后良好,多于1~2个月内消失,大约10%~14%小儿转为其他类型癫痫。
[ { "id": 0, "entity": "癫痫", "start_offset": 33, "end_offset": 35, "label": "dis" } ]
惊厥多表现为阵挛发作,有时伴有呼吸暂停,发作频繁,有时可呈癫痫持续状态。
[ { "id": 0, "entity": "阵挛", "start_offset": 6, "end_offset": 8, "label": "sym" }, { "id": 1, "entity": "呼吸暂停", "start_offset": 15, "end_offset": 19, "label": "sym" }, { "id": 2, "entity": "发作频繁", "start_offset": 20, "end_offset": 24, "label": "sym" }, { "id": 3, "entity": "呈癫痫持续状态", "start_offset": 28, "end_offset": 35, "label": "sym" } ]
多在3~10个月发病;临床以频繁的强直痉挛发作为特征,可分为屈曲型、伸展型及混合型。
[ { "id": 0, "entity": "频繁的强直痉挛发作", "start_offset": 14, "end_offset": 23, "label": "sym" }, { "id": 1, "entity": "屈曲型", "start_offset": 30, "end_offset": 33, "label": "dis" }, { "id": 2, "entity": "伸展型", "start_offset": 34, "end_offset": 37, "label": "dis" }, { "id": 3, "entity": "混合型", "start_offset": 38, "end_offset": 41, "label": "dis" } ]
屈曲型表现为点头、弯腰、屈肘及屈髋等动作。
[ { "id": 0, "entity": "屈曲型", "start_offset": 0, "end_offset": 3, "label": "dis" }, { "id": 1, "entity": "点头", "start_offset": 6, "end_offset": 8, "label": "sym" }, { "id": 2, "entity": "弯腰", "start_offset": 9, "end_offset": 11, "label": "sym" }, { "id": 3, "entity": "屈肘", "start_offset": 12, "end_offset": 14, "label": "sym" }, { "id": 4, "entity": "屈髋", "start_offset": 15, "end_offset": 17, "label": "sym" } ]
伸展型表现为头后仰、两臂伸直以及伸膝等动作。
[ { "id": 0, "entity": "伸展型", "start_offset": 0, "end_offset": 3, "label": "dis" }, { "id": 1, "entity": "头后仰", "start_offset": 6, "end_offset": 9, "label": "sym" }, { "id": 2, "entity": "两臂伸直", "start_offset": 10, "end_offset": 14, "label": "sym" }, { "id": 3, "entity": "伸膝", "start_offset": 16, "end_offset": 18, "label": "sym" } ]
混合表现为部分肢体为伸展,部分肢体为屈曲。
[ { "id": 0, "entity": "部分肢体为伸展", "start_offset": 5, "end_offset": 12, "label": "sym" }, { "id": 1, "entity": "部分肢体为屈曲", "start_offset": 13, "end_offset": 20, "label": "sym" } ]
一般在5~6个月时出现第一次惊厥,往往伴有发热或在惊厥前有感染或预防接种史,初起发作形式为阵挛或强直-阵挛,以后才呈肌阵挛发作,形式多样,可为全身抽动或某个肢体抽动,发作时常摔倒。
[ { "id": 0, "entity": "发热", "start_offset": 21, "end_offset": 23, "label": "sym" }, { "id": 1, "entity": "阵挛", "start_offset": 45, "end_offset": 47, "label": "sym" }, { "id": 2, "entity": "强直-阵挛", "start_offset": 48, "end_offset": 53, "label": "sym" }, { "id": 3, "entity": "肌阵挛", "start_offset": 58, "end_offset": 61, "label": "sym" }, { "id": 4, "entity": "全身抽动", "start_offset": 71, "end_offset": 75, "label": "sym" }, { "id": 5, "entity": "某个肢体抽动", "start_offset": 76, "end_offset": 82, "label": "sym" } ]
神经影像学检查正常。
[ { "id": 0, "entity": "神经影像学", "start_offset": 0, "end_offset": 5, "label": "pro" } ]
癫痫持续状态可能的原因和诱因包括脑外伤、颅内占位性病变、中枢感染、中毒以及代谢性疾病等。
[ { "id": 0, "entity": "脑外伤", "start_offset": 16, "end_offset": 19, "label": "dis" }, { "id": 1, "entity": "颅内占位性病变", "start_offset": 20, "end_offset": 27, "label": "dis" }, { "id": 2, "entity": "中枢感染", "start_offset": 28, "end_offset": 32, "label": "dis" }, { "id": 3, "entity": "中毒", "start_offset": 33, "end_offset": 35, "label": "dis" }, { "id": 4, "entity": "代谢性疾病", "start_offset": 37, "end_offset": 42, "label": "dis" } ]
①必要的实验室检查如血生化检查(血钙、血糖、电解质及其他生化物质等)、脑脊液检查、先天性遗传及代谢疾病血液与尿液筛查试验,神经免疫功能检查,染色体分析和基因定位检查、皮肤及肌肉活体组织检查;②影像学检查如头颅CT、MRI、MRA及DSA了解脑部结构异常;PET及SPECT了解大脑功能改变及帮助癫痫定位;FMRI(功能性MRI)、MEG(脑磁图)及IAP(颈内动脉异戊巴比妥试验)等检查,了解脑的结构与功能的关系。
[ { "id": 0, "entity": "实验室检查", "start_offset": 4, "end_offset": 9, "label": "pro" }, { "id": 1, "entity": "血生化检查", "start_offset": 10, "end_offset": 15, "label": "pro" }, { "id": 2, "entity": "脑脊液检查", "start_offset": 35, "end_offset": 40, "label": "pro" }, { "id": 3, "entity": "先天性遗传及代谢疾病血液与尿液筛查试验", "start_offset": 41, "end_offset": 60, "label": "pro" }, { "id": 4, "entity": "神经免疫功能检查", "start_offset": 61, "end_offset": 69, "label": "pro" }, { "id": 5, "entity": "染色体分析", "start_offset": 70, "end_offset": 75, "label": "ite" }, { "id": 6, "entity": "基因定位检查", "start_offset": 76, "end_offset": 82, "label": "pro" }, { "id": 7, "entity": "皮肤及肌肉活体组织检查", "start_offset": 83, "end_offset": 94, "label": "pro" }, { "id": 8, "entity": "影像学检查", "start_offset": 96, "end_offset": 101, "label": "pro" }, { "id": 9, "entity": "头颅CT", "start_offset": 102, "end_offset": 106, "label": "pro" }, { "id": 10, "entity": "MRI", "start_offset": 107, "end_offset": 110, "label": "pro" }, { "id": 11, "entity": "MRA", "start_offset": 111, "end_offset": 114, "label": "pro" }, { "id": 12, "entity": "DSA", "start_offset": 115, "end_offset": 118, "label": "pro" }, { "id": 13, "entity": "PET", "start_offset": 127, "end_offset": 130, "label": "pro" }, { "id": 14, "entity": "SPECT", "start_offset": 131, "end_offset": 136, "label": "pro" }, { "id": 15, "entity": "FMRI", "start_offset": 152, "end_offset": 156, "label": "pro" }, { "id": 16, "entity": "MEG", "start_offset": 165, "end_offset": 168, "label": "pro" }, { "id": 17, "entity": "脑磁图", "start_offset": 169, "end_offset": 172, "label": "pro" }, { "id": 18, "entity": "IAP", "start_offset": 174, "end_offset": 177, "label": "pro" }, { "id": 19, "entity": "颈内动脉异戊巴比妥试验", "start_offset": 178, "end_offset": 189, "label": "pro" } ]
儿童甲亢主要见于弥漫性毒性甲状腺肿(Graves病)。
[ { "id": 0, "entity": "甲亢", "start_offset": 2, "end_offset": 4, "label": "dis" }, { "id": 1, "entity": "弥漫性毒性甲状腺肿", "start_offset": 8, "end_offset": 17, "label": "dis" }, { "id": 2, "entity": "Graves病", "start_offset": 18, "end_offset": 25, "label": "dis" } ]
除了Graves病外,有少数病例甲状腺内有结节(包括腺瘤),称结节性毒性甲状腺肿伴功能亢进。
[ { "id": 0, "entity": "Graves病", "start_offset": 2, "end_offset": 9, "label": "dis" }, { "id": 1, "entity": "甲状腺", "start_offset": 16, "end_offset": 19, "label": "bod" }, { "id": 2, "entity": "结节", "start_offset": 21, "end_offset": 23, "label": "sym" }, { "id": 3, "entity": "腺瘤", "start_offset": 26, "end_offset": 28, "label": "dis" }, { "id": 4, "entity": "结节性毒性甲状腺肿", "start_offset": 31, "end_offset": 40, "label": "dis" }, { "id": 5, "entity": "功能亢进", "start_offset": 41, "end_offset": 45, "label": "sym" } ]
儿童甲亢临床过程个体差异很大,症状逐渐加重,症状开始到确诊时间一般在6~12个月。
[ { "id": 0, "entity": "甲亢", "start_offset": 2, "end_offset": 4, "label": "dis" } ]
本症初发病时症状不甚明显、进展缓慢,常先呈现情绪不稳定,上课思想不集中,易激惹、多动和注意力不集中等轻微行为改变。
[ { "id": 0, "entity": "初发病时症状不甚明显、进展缓慢,常先呈现情绪不稳定,上课思想不集中,易激惹、多动和注意力不集中等轻微行为改变", "start_offset": 2, "end_offset": 56, "label": "sym" } ]
甲状腺“危象”是甲状腺功能亢进症的一种类型,表现为急性发病、高热、严重的心动过速和不安,可迅速发展为谵妄、昏迷以至死亡。
[ { "id": 0, "entity": "甲状腺“危象”", "start_offset": 0, "end_offset": 7, "label": "dis" }, { "id": 1, "entity": "甲状腺功能亢进症", "start_offset": 8, "end_offset": 16, "label": "dis" }, { "id": 2, "entity": "急性发病、高热、严重的心动过速和不安,可迅速发展为谵妄、昏迷以至死亡", "start_offset": 25, "end_offset": 59, "label": "sym" } ]
新生儿甲亢较少见,大多属暂时性,常见于患有甲亢的孕妇。
[ { "id": 0, "entity": "新生儿甲亢", "start_offset": 0, "end_offset": 5, "label": "dis" }, { "id": 1, "entity": "甲亢", "start_offset": 21, "end_offset": 23, "label": "dis" } ]
避免外来的刺激和压力,饮食应富有蛋白质、糖类及维生素等。
[ { "id": 0, "entity": "蛋白质", "start_offset": 16, "end_offset": 19, "label": "bod" }, { "id": 1, "entity": "糖类", "start_offset": 20, "end_offset": 22, "label": "bod" }, { "id": 2, "entity": "维生素", "start_offset": 23, "end_offset": 26, "label": "dru" } ]
根据统计,治疗后弥漫性毒性甲状腺肿每2年只有25%的缓解率,因此药物治疗可能必须维持达5年或更久。
[ { "id": 0, "entity": "弥漫性毒性甲状腺肿", "start_offset": 8, "end_offset": 17, "label": "dis" } ]
4.如心血管症状明显者可加用肾上腺素能受体阻断药普萘洛尔作为辅助药物,减轻交感神经过度兴奋所致的心律快、多汗及震颤等症状,用量为1~2mg/(kg•d),分3次口服。
[ { "id": 0, "entity": "心血管", "start_offset": 3, "end_offset": 6, "label": "bod" }, { "id": 1, "entity": "肾上腺素", "start_offset": 14, "end_offset": 18, "label": "dru" }, { "id": 2, "entity": "普萘洛尔", "start_offset": 24, "end_offset": 28, "label": "dru" }, { "id": 3, "entity": "减轻交感神经过度兴奋所致的心律快、多汗及震颤", "start_offset": 35, "end_offset": 57, "label": "sym" } ]
主要是手术加放疗和化疗。
[ { "id": 0, "entity": "手术", "start_offset": 3, "end_offset": 5, "label": "pro" }, { "id": 1, "entity": "放疗", "start_offset": 6, "end_offset": 8, "label": "pro" }, { "id": 2, "entity": "化疗", "start_offset": 9, "end_offset": 11, "label": "pro" } ]
系儿童单纯性血尿的常见原因之一。
[ { "id": 0, "entity": "单纯性血尿", "start_offset": 3, "end_offset": 8, "label": "dis" } ]
高钙尿引起血尿的机制尚未肯定,有人认为系X线不能发现的细微钙结晶引起尿路损伤所致,亦有人提出和肾间质炎症有关。
[ { "id": 0, "entity": "高钙尿", "start_offset": 0, "end_offset": 3, "label": "sym" }, { "id": 1, "entity": "血尿", "start_offset": 5, "end_offset": 7, "label": "sym" }, { "id": 2, "entity": "X线", "start_offset": 20, "end_offset": 22, "label": "ite" }, { "id": 3, "entity": "尿路损伤", "start_offset": 34, "end_offset": 38, "label": "dis" }, { "id": 4, "entity": "肾间质炎症", "start_offset": 47, "end_offset": 52, "label": "dis" } ]
成人特发性高钙尿者最终可有40%~60%发生肾结石,而儿童仅有2%~5%可出现肾结石。
[ { "id": 0, "entity": "特发性高钙尿", "start_offset": 2, "end_offset": 8, "label": "dis" }, { "id": 1, "entity": "肾结石", "start_offset": 22, "end_offset": 25, "label": "dis" }, { "id": 2, "entity": "肾结石", "start_offset": 39, "end_offset": 42, "label": "dis" } ]
易并发尿路感染,也有病例出现多尿和多饮。
[ { "id": 0, "entity": "尿路感染", "start_offset": 3, "end_offset": 7, "label": "dis" }, { "id": 1, "entity": "多尿", "start_offset": 14, "end_offset": 16, "label": "sym" }, { "id": 2, "entity": "多饮", "start_offset": 17, "end_offset": 19, "label": "sym" } ]
儿童中以手术后制动、先天性肾小管功能紊乱及糖皮质激素引起较为常见。
[ { "id": 0, "entity": "先天性肾小管功能紊乱", "start_offset": 10, "end_offset": 20, "label": "dis" }, { "id": 1, "entity": "糖皮质激素", "start_offset": 21, "end_offset": 26, "label": "dru" } ]
常用氢氯噻嗪1~2mg/(kg•d),疗程一般小于4个月,可取得较显著效果,尚应注意药物不良反应。
[ { "id": 0, "entity": "氢氯噻嗪", "start_offset": 2, "end_offset": 6, "label": "dru" } ]
由于气管软骨支撑作用不足,吸气时随着气道内压力的改变导致气管壁的塌陷,引起功能性气道狭窄阻塞,出现呼吸困难、喘鸣、发绀等。
[ { "id": 0, "entity": "气管软骨", "start_offset": 2, "end_offset": 6, "label": "bod" }, { "id": 1, "entity": "气道", "start_offset": 18, "end_offset": 20, "label": "bod" }, { "id": 2, "entity": "气管壁", "start_offset": 28, "end_offset": 31, "label": "bod" }, { "id": 3, "entity": "功能性气道狭窄阻塞", "start_offset": 37, "end_offset": 46, "label": "dis" }, { "id": 4, "entity": "呼吸困难", "start_offset": 49, "end_offset": 53, "label": "sym" }, { "id": 5, "entity": "喘鸣", "start_offset": 54, "end_offset": 56, "label": "sym" }, { "id": 6, "entity": "发绀", "start_offset": 57, "end_offset": 59, "label": "sym" } ]
支气管软化主要表现为喘鸣,如病变发生在一侧(左侧多),可发生病侧喘鸣音更响、气体进入延迟。
[ { "id": 0, "entity": "支气管软化", "start_offset": 0, "end_offset": 5, "label": "dis" }, { "id": 1, "entity": "喘鸣", "start_offset": 10, "end_offset": 12, "label": "sym" }, { "id": 2, "entity": "病侧喘鸣音更响", "start_offset": 30, "end_offset": 37, "label": "sym" }, { "id": 3, "entity": "气体进入延迟", "start_offset": 38, "end_offset": 44, "label": "sym" } ]
Finder报道17例原发性支气管软化,均在6个月内发病,以喘鸣为主,均有左主支气管受累,两侧支气管受累1例,伴喉软化1例,轻度气管软化2例。
[ { "id": 0, "entity": "原发性支气管软化", "start_offset": 11, "end_offset": 19, "label": "dis" }, { "id": 1, "entity": "喘鸣", "start_offset": 30, "end_offset": 32, "label": "sym" }, { "id": 2, "entity": "左主支气管", "start_offset": 37, "end_offset": 42, "label": "bod" }, { "id": 3, "entity": "支气管", "start_offset": 47, "end_offset": 50, "label": "bod" }, { "id": 4, "entity": "喉软化", "start_offset": 56, "end_offset": 59, "label": "dis" }, { "id": 5, "entity": "轻度气管软化", "start_offset": 62, "end_offset": 68, "label": "dis" } ]
本症亦可继发于其他原因,如气管插管时间过长、损伤、肿瘤和淋巴结压迫等。
[ { "id": 0, "entity": "气管插管", "start_offset": 13, "end_offset": 17, "label": "pro" }, { "id": 1, "entity": "肿瘤", "start_offset": 25, "end_offset": 27, "label": "dis" }, { "id": 2, "entity": "淋巴结压迫", "start_offset": 28, "end_offset": 33, "label": "dis" } ]
本病以保守疗法为主,包括增强营养、适当补充维生素D及钙剂,保持呼吸道通畅。
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支气管软化者应注意体位引流,可应用色甘酸、溴化异丙托品,但应避免使用β受体激动剂。
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对严重呼吸困难、常规治疗无效、尤其是气管切开后不能拔管者,可采用大血管固定、气管悬吊术、气囊扩张金属支架等方法。
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