双胞胎同患儿童良性癫痫伴中央颞区棘波

例1,女,6岁6个月,双胎之小,因间断抽搐2年就诊。近 2年出现入睡10 min后一侧嘴角及面部抽动,继之四肢抽动, 每次持续2-10 min不等,共3次,无发热。1年前在当地医院予妥泰抗癫癎并加量至4 mg／(kg·d),仍控制不满意,再次抽搐入院。神经系统检查无异常。既往体健,无热性惊厥病史,近0．5年出现语言缓慢、不流畅、找词困难。患儿为单卵双胎正常分娩。家族中其表姨有抽搐史。视频脑电图 (VEEG)示背景节律正常,中央颞区棘波、棘慢波发放,睡眠期     

Rasmussen综合征1例报告

Rasmussen综合征(RS)具体病因不明,为慢性进展性病变,现将本院收治的1例临床资料报告如下. 1 临床资料 男,6岁.因"反复抽搐一年半,逐渐加重并步态不稳1个月"入院.患儿于一年半前感冒10 d后出现反复抽搐,表现为左侧下肢或上肢抽动,有时同时抽动,持续几秒到几分钟,10～30余次/d,症状逐渐加重,次数逐渐增多.     

氯氮平及氟哌啶醇致新生儿撤药综合征一例

患儿男,38 h,第一胎,第一产,孕39周自然分娩,无胎膜早破,生时羊水清,脐带及胎盘正常,1 min及5min Apgar评分均为10分,人工喂养.自出生后吃奶差,吸吮及吞咽无力,于入院前8h(即生后30 h)抽搐1次,当时双目凝视,四肢抽动,面及口唇紫绀,持续约1 ～2 min自行缓解,入院前3h前再次出现抽搐,抽搐状态及持续时间同前,伴呕吐1次,体温正常.     

伊藤色素减少症合并脑脓肿1例

<正>患儿,男,12岁,因间断抽搐7年入院。7年前无明显诱因出现第1次抽搐,开始表现为右手抽动,继之意识丧失,双眼凝视,无四肢强直,持续1~2 min缓解。发作后患儿玩耍如常,未予诊治。2年前,因患儿学习能力差就诊于当地市医院,头部CT未见异常。入院前5 d患儿先出现右上肢抽动,继之出现全身强直性发作,1~2 min后缓解,缓解后状     

反复抽搐、意识障碍

主治医师查房　入院第一天住院医师　汇报病史 :患儿 4岁 ,男 ,以频繁抽搐 12h为主诉入院。患儿于入院当日晨起 6时许无明显诱因突然出现抽搐 ,表现为双眼一侧斜视 ,口周发绀 ,四肢呈强直 阵挛抽搐 ,抽时神志不清 ,口吐白沫 ,二便失禁 ,无热 ,持续约 1～ 5min后缓解 ,间隔 5～ 10min后再次抽搐。抽搐多数表现为全面性发作 ,有时表现为偏侧或左侧单个肢体抽动 ,整个过程中意识丧失始终没有恢复。于当地医院给予镇静剂未能缓解而来我院。病来不热、无咳、否认腹泻及头外伤史。既往曾经抽搐 5～ 6次 ,检查头CT、MRI及脑电图正常 ,诊断癫…     

CDK13相关疾病1例病例报告

1 病例资料 男,2月25 d,因"发作性抽搐1个月"于2019年5月29日入中南大学湘雅医院(我院).患儿1月25日龄时出现眼睑抽动,随即出现肢体抽搐,表现为头向一侧偏斜,双眼向同侧凝视,躯干及双下肢向前快速屈曲,双手抱球,成串发作,每串持续4～5 min后自行缓解,每天2～3串,每串2～3 min,均为醒睡期出现....     

新生儿先天性Di George综合征一例

患儿,女,20d,以"反复抽搐9d,加重3d"为主诉入院.患儿系第2胎第1产,胎龄36周,会阴侧切分娩,Apgar评分不详,出生体重1900g.于生后11d开始无诱因出现间断抽搐,表现为眨眼、咂嘴及手足抽动,口服钙剂及维生素D无好转.入院前3d抽搐频繁,不伴发热.否认家族有类似病史.查体:T 36℃,P 132次/min,R 40次/min.     

先天性脑弓形虫病3例

例 1,女 ,3个月 ,反复抽搐 3个月 ,生后 2 0d出现四肢抽动。以后每天均有四肢抽动 ,持续数秒 ,3～ 4次 /d ,类癫样大发作 ,每月 1次 ,持续数分钟至 30min。查体 :昏迷状 ,四肢强直性抽搐 ,深浅反射消失 ,双瞳孔直径 4mm ,对光反射消失 ,头围 38.5cm ,肝肋下 3cm ,余无异常。经对症处理 3min后止痉。头部CT示蛛网膜下腔出血、右颞顶硬膜下出血。脑电图示棘 慢、尖慢波。Toxo IgG 1∶2 0 0阳性 ,IgM1∶10 0阳性。母孕 3个月经PCR检测Toxo DNA阳性 ,Toxo IgG 1∶2 0 0阳性 ,母孕期有猫接触史。诊断为先天性脑弓形虫感染继发颅内出血 …     

表现为脑血管病变的神经纤维瘤病Ⅰ型一例

患儿女．6岁半。因咳嗽10d,左半身瘫痪2d入院。患儿10d前受凉后出现咳嗽．在当地医院予口服青霉素、止咳祛痰药治疗,无明显好转。3d前出现发热,体温37．3℃～37．8℃,抽搐2次,表现为左侧口角、面部、上下肢抽动．意识模糊,分别持续5min和20min左右自行缓解,发作后疲倦。治疗后热退。2d前出现左侧肢体及面部瘫痪。近半年来反复轻微头痛,诊为“血管性头痛”,口服尼莫地平     

新生儿结核性脑膜炎一例

患儿 男,9d,因“皮肤黄染3d,反复抽搐1d”入院。患儿系G1P1,足月顺产,其母否认孕期感染史,否认胎膜早破史、宫内窘迫史及出生后抢救史,Apgar评分1、5、10min均为10分,出生体重3250g。入院前3d发现患儿颜面皮肤黄染,不伴发热、抽搐、纳差,大小便颜色性状无明显变化,未予特殊处理。入院前1d,患儿突发抽搐,呈头偏向一侧,口角向一侧抽动,四肢屈曲,伴口唇发绀,不伴双眼凝视及发热,反复发作约10min。入院前共抽搐3次,症状相似。     

Comparison of patients with Kawasaki disease with retropharyngeal edema and patients with retropharyngeal abscess

Kawasaki disease with retropharyngeal edema (KD with RPE) is a rare complication, and it is diagnosed by neck CT. Most reported cases had a delayed diagnosis because those patients' conditions were misdiagnosed as retropharyngeal abscess (RPA). The purpose of this study was to differentiate KD with RPE from RPA. We performed a retrospective case–control study comparing children with KD with RPE to those with RPA hospitalized at the tertiary pediatric hospital in Tokyo between 2005 and 2011. The 39 patients revealing RPE on neck CT were divided into two groups: group A was classified as KD (n?=?21) and group B was classified as non-KD (n?=?18). Patients in group B were finally evaluated as having RPA clinically and were treated with antibiotic therapy. A significantly higher proportion of patients in group B complained of dysphagia (11 patients vs. 5 patients; p?=?0.0170) and neck pain (17 patients vs. 12 patients; p?=?0.0106). Neck CT revealed a ring enhancement (16 patients vs. no patients; p?<?0.0001) and mass effect in a greater proportion of patients in group B (11 patients vs. 1 patient; p?<?0.0003). Conclusion: Careful attention to manifestations and close analyses of CT imaging may allow clinicians to differentiate KD with RPE from RPA.     

Patients with moyamoya disease presenting with movement disorder

Moyamoya disease is a rare cerebrovascular disease characterized by idiopathic bilateral stenosis or occlusion of bilateral internal carotid arteries and the development of characteristic leptomeningeal collateral vessels at the base of the brain. Typical presentations include transient ischemic attacks or stroke, and hemorrhage. Presentation with movement disorders is extremely rare, especially in the pediatric population. The authors describe the cases of 4 children with moyamoya disease who presented with movement disorders. Among 446 patients (118 pediatric) with moyamoya disease surgically treated by the senior author, 4 pediatric patients had presented with movement disorders. The clinical records, imaging studies, surgical details, and postoperative clinical and imaging data were retrospectively reviewed. The initial presenting symptom was movement disorder in all 4 patients: chorea in 2, hemiballismus in 1, and involuntary limb shaking in 1. All the patients had watershed infarcts involving the frontal subcortical region on MR imaging. Additionally, 1 patient had a ganglionic infarct. Single-photon emission computed tomography studies showed frontoparietal cortical and subcortical hypoperfusion in all patients. Three patients had bilateral disease, whereas 1 had unilateral disease. All the patients underwent superficial temporal artery-middle cerebral artery bypass. Postoperatively, all 4 patients had complete improvement in their symptoms. The SPECT scans revealed normal perfusion in 3 patients and a small residual perfusion deficit in 1. Movement disorders are a rare presenting feature of moyamoya disease. Hypoperfusion of the frontal cortical and subcortical region was seen in all patients, and the symptomatology was attributed to ischemic dysfunction and imbalance in the cortical-subcortical-ganglionic-thalamic-cortical circuitry. Combined revascularization with superficial temporal artery-middle cerebral artery bypass and encephaloduroarteriosynangiosis leads to excellent results.     

Treatment with probucol of children with familial hypercholesterolaemia

Nine children with familial hypercholesterolaemia, age range 2 to 12 years, were treated with a low cholesterol diet and probucol (10 mg/kg/day). The year before, the children received, as only treatment, a low fat-cholesterol diet. During this period their mean plasma total cholesterol level fell from 8.2 +/- 1.45 mmol/l to 7.17 +/- 0.84 mmol/l (12.6%). This level was further reduced to 5.92 +/- 0.63 mmol/l (17.1%) after the addition of probucol. Plasma high density lipoprotein cholesterol levels were lowered in absolute terms but not in relation to total cholesterol. No apparent side effects were observed. However, the use of probucol should be restricted for the moment to severe cases of hypercholesterolaemia as the long-term excretion of the drug in children is not yet known.