4例以癫痫性负性肌阵挛为首发或唯一发作类型的儿童癫痫临床特征

目的探讨以癫痫性负性肌阵挛(ENM)为首发或唯一发作类型的儿童癫痫的电生理和临床特征。方法回顾分析4例以ENM为首发或唯一发作类型的癫痫患儿的脑电图和临床资料。结果 4例患儿中,男3例、女1例;起病年龄(1.85±0.61)岁(1岁5个月～2岁9个月);病初智力发育正常(发育商均90);头颅影像学无异常,血、尿遗传病筛查无异常。4例患儿均以ENM为首次发作类型,其中3例以ENM为唯一发作类型,1例ENM之后出现局灶性发作。首次视频脑电图(VEEG)背景节律无异常,发作期与发作间期均为中央-颞区(Rolandic区)棘慢波。2例患儿丙戊酸治疗3个月内发作控制(随访至今无发作)。2例治疗曲折但目前暂无发作,其中1例病程中卡马西平(CBZ)治疗加重ENM,停CBZ加氯硝西泮有效;1例治疗5个月后出现睡眠期癫痫电持续状态,甲基泼尼松龙冲击治疗有效。3例患儿末次VEEG仍存在数量不等的放电,存在不同程度的学习困难、行为障碍或多动;1例失访。结论以ENM为首发或唯一发作类型的儿童癫痫具有特定的脑电模式和相似的临床特征。     

复杂部分性癫痫持续状态的临床与脑电图特征

目的　通过对复杂部分性癫痫持续状态 (CPSE)的临床分析 ,阐述小儿CPSE的临床特征、诊断与治疗。方法　对该院 1 7例CPSE患儿的临床过程、脑电图及抗癫痫治疗等资料进行分析。结果 1 7例CPSE患儿起病年龄为 3～ 1 2岁 ,临床发作持续时间为 1h～ 3.5周 ;78%的患儿有明确的病因 ,CPSE临床表现多样 ,所有病例均有意识障碍 ,同时伴有不同程度的精神和行为异常 ,发作期脑电图主要以基本电活动变慢伴颞部局灶性慢波或痫样放电的持续或周期性发放为特征 ,经抗癫痫药物等治疗 ,1 1例患儿持续发作完全控制 ,4例持续状态控制 ,仅有部分性发作 ,2例未能控制。结论　意识障碍伴精神和行为异常为CPSE的临床特征 ,发作期及发作间期脑电图检查可明确诊断 ,对CPSE患儿应予以及时诊断和处理。     

婴儿良性癫癎的临床观察和远期随访研究

目的 研究婴儿良性癫痫的发作特征,脑电图及治疗反应,探讨早期诊断方法。方法 对出生后3-24个月内起病,排除热性惊厥,症状性癫痫及发育异常的婴儿惊厥进行临床观察及寻像脑电图（VEEG）监测,并随访治疗效果和远期预后,结果 42例经2年以上随访确诊为婴儿良性癫痫,其中3例有良性婴儿惊厥家族史,19%惊厥伴有轻微腹泻,67%为短期内频繁发作,无癫痫持续状态,3例VEEG监测证实分别为起源于颞区,枕区及多灶性的部分性发作,发作间期脑电图背景正常,24%睡眠中有Rolandic区小棘波,39例接受抗癫痫单药治疗,平均用药时间9个月,3例未用药物治疗,起病1年内发作均消失,结论 起病早期具有以下特征应考虑有婴儿良性癫痫的可能;（1）起病年龄在3-12个月,不超过24个月,可有婴儿良性惊厥家族史;（2）发病前后精神运动发育正常;（3）发作无诱因,或仅有轻度腹泻等非特异性感染;（4）以部分性发作为主,可继发全身性发作,起病时发作可以很频繁,但无癫痫持续状态;（5）发作间期脑电图背景正常,无典型癫痫样放电,可有睡眠期Rolandic区小棘波;（6）神经影像学正常。     

以脑卒中样发作为主要表现的儿童遗传代谢病

目的提高对遗传代谢性疾病所致儿童卒中样发作的认识。方法采用回顾性方法,对5例确诊为儿童遗传代谢病引发率中样发作患儿的临床表现、生化特点以及诊疗情况进行分析。结果 5例患儿中4男、1女,就诊年龄10～13岁。其中2例高同型半胱氨酸血症患儿起病急,表现为运动障碍和(或)意识障碍,生长发育、智力正常;2例线粒体脑肌病伴乳酸酸中毒和卒中样发作(MELAS)及1例疑似MELAS患儿起病急,病程迁延,以运动障碍、惊厥、视力下降、性格改变为主要表现,体格发育落后于正常同龄儿,病程中出现智力倒退。MELAS患儿血乳酸升高,线粒体基因MELAS A3243G位点突变;高同型半胱氨酸血症患儿血同型半胱氨酸浓度升高。影像学检查,MELAS患儿以后头部灰质损害为主,高同型半胱氨酸血症患儿为多发性腔隙性脑梗塞、双侧基底节区脑梗塞。结论儿童卒中病因繁多,应注意遗传代谢病引发卒中样发作的可能性;对既往体健,突发卒中者应注意高同型半胱氨酸血症的可能;对体格发育落后,头颅MRI以后头部灰质病变为主的卒中样发作,应注意MELAS的可能。     

双胎兄弟MELAS 综合征的临床特点

目的探讨异卵双胎兄弟同患线粒体脑肌病伴乳酸血症与卒中样发作综合征(MELAS)的临床特点。方法回顾分析1对异卵双胞胎兄弟同患MELAS病例的临床表现、实验室检查、脑电图、影像学、基因检测结果及诊疗过程。结果先证者,男,7岁时以间断头痛、呕吐、抽搐起病,既往运动不耐受、易疲劳,伴有身材矮小、皮肤多毛,空腹血乳酸值增高,多次视频脑电图背景活动慢化,头颅磁共振成像示随病情反复发作病灶具有迁徙、易变,mtDNA A3243G点突变率34.7%,确诊MELAS。同期筛查同胞异卵弟弟A3243G突变率30%,但无临床症状,间隔3年后以抽搐起病。结论早期基因检测并筛查家系有助于MELAS的诊断,A3243G突变率高,起病年龄早,临床症状重。     

儿童线粒体脑肌病伴高乳酸血症和卒中样发作综合征2例报告

目的：探讨线粒体脑肌病伴高乳酸血症和卒中样发作综合征(MELAS)的诊断与治疗。方法回顾性分析2例MELAS患儿的临床特征及诊疗过程。结果2例患儿主要临床表现为卒中样发作、抽搐、视物模糊、高乳酸血症；发作期头颅磁共振成像结果符合典型的MELAS综合征影像学表现；基因测序存在mtDNA的A3243G点突变；改善供能及皮质激素治疗后症状明显改善。结论 MELAS临床症状复杂多样，血乳酸及头颅磁共振成像检查有助临床诊断，确诊需要肌肉活检或基因检测，皮质激素治疗有效。     

口周肌阵挛伴失神2例临床和脑电图分析

目的探讨口周肌阵挛伴失神(POMA)的临床特点、脑电图特征及治疗。方法回顾2例POMA患儿的临床表现、脑电图特征及治疗效果,并结合文献进行分析。结果 2例患儿均以热性惊厥起病,发作表现为口周肌肉节律性抽动,伴有失神、意识障碍,发作次数较频繁,每次持续数秒至10 s。发作期脑电图特征为广泛性3 Hz棘慢波、慢波阵发,发作间期脑电图特征为中-极高波幅棘慢波、慢波散发或短阵发放。头颅影像学均正常,1例智力、运动发育稍落后,1例有癫痫家族史。2例患儿均予丙戊酸钠治疗,服药后均能控制发作,其中1例停药后复发。结论 POMA是以失神发作伴突出的口周肌阵挛为特征的特发性全面性癫痫综合征,视频脑电图对明确诊断有重要价值。     

CHD2基因变异相关癫痫临床特点分析

目的 分析CHD 2基因变异相关癫痫患儿的临床特点。方法 通过对7例CHD 2基因变异相关癫痫患儿的长期随访观察,分析总结其临床特点及治疗方案效果评价。结果 7例患儿癫痫发作中位起病年龄为3岁2个月。5例患儿病程中出现2种及以上的发作类型,以全面强直阵挛发作为主。7例患儿有程度不等的运动、智力及语言发育落后,1例有孤独症倾向。5例患儿发作间期脑电图监测到异常放电,4例有临床发作。头颅MRI均无特异性改变。4例患儿需加用2种以上抗癫痫药物,治疗后发作次数减少;1例患儿对抗癫痫药物不敏感,最后启动生酮饮食治疗,目前无发作。末次随访年龄为2～7岁,其中3例发作控制半年以上,丙戊酸和左乙拉西坦是治疗CHD2基因变异相关癫痫的有效药物。结论 CHD2基因变异相关癫痫患儿起病年龄较早,发作类型多样,多为难治性癫痫,预后较差,应尽早治疗干预。     

Mowat-Wilson综合征5例癫痫相关的临床特点

目的总结Mowat-Wilson综合征(MWS)患儿癫痫相关的临床特点, 提高对此病的认识。方法回顾性分析2020年6至12月就诊于北京大学第一医院的5例MWS患儿的癫痫相关临床特点, 总结其癫痫发作的起病年龄、临床表现、脑电图、头颅磁共振成像(MRI)、ZEB2基因变异等特点及抗癫痫发作药物(ASM)的疗效。结果 5例患儿中男3例、女2例, 癫痫发作起病年龄为6月龄至4岁。4例患儿表现为局灶性发作, 局灶性发作表现多样, 但均表现为局灶运动性发作;1例患儿表现为癫痫性痉挛发作。5例患儿均表现出特殊面容, 不同程度的智力障碍、发育迟缓以及多种先天畸形。4例患儿脑电图表现为背景节律减慢和后头部为主的癫痫样放电, 1例患儿脑电图病初为高度失律, 后表现为后头为主的多灶性放电。2例患儿头颅磁共振成像有异常, 分别表现为胼胝体发育不良和白质发育落后。5例患儿均为ZEB2基因新生杂合变异携带者, 无义变异4例, 移码变异1例。随访14～20个月, 3例癫痫发作控制超过1年, 2例癫痫发作控制超过6个月;2例单用丙戊酸, 2例联合应用丙戊酸。结论癫痫发作是MWS的常见临床表型, 以局灶性运动性发作...     

非惊厥性癫痫持续状态的临床分析

对１４例非惊厥性癫痫持续状态进行临床分析。其中失神癫痫持续状态２例，非典型失神癫痫持续状态８例，复杂部分性癫痫持续状态４例。每例均做发作期及间隙期脑电图检查。结果表明，所有患儿均有精神错乱或意识模糊而无强直性阵挛性发作。提示非惊厥性癫痫持续状态的不同类型发作的临床表现有其相似之处，又有各自特点。脑电图改变是诊断和鉴别不同类型癫痫的主要依据。     

Resilience in Families with a Child with Cancer

The aim of this study was to identify and explore resilience factors associated with family adaption after a child had been diagnosed with cancer. Using a cross-sectional survey research design, parents (n = 26), and children (n = 25) from the same families independently completed six self-report questionnaires, as well as responded to an open-ended question about those qualities that helped their family through the period following the diagnosis. The most significant results came from the children's data. According to these results, connectedness within the family, the experience of control over life events, family routines, positive, and supportive communication, redefinition of crisis situations, and lastly, a passive appraisal of crisis situations, were positively linked to better family adaptation. The identified factors should be strengthened and developed in families finding themselves in a similar situation.     

Colonization with Clostridium difficile in Children with Cancer

Objective

Clostridium difficile is a gram-positive, anaerobic, spore-forming bacillus. Usually it does not cause disease unless a patient who is colonized with toxin-producing strains has been treated with antibiotics, particularly those that change the anaerobic flora of the large intestine.

Methods

We investigated in a prospective study intestinal colonization of C. difficile and its toxins in children with malignancy that used different antibiotics and cytotoxic drugs.

Findings

One hundred fifty-two patients were included in this prospective study. Stool samples were obtained within the first 48 hours after admission and cultured for C. difficile; cytopathic effect of C. difficile was detected on HELA cells, also ELISA test was performed for detection of toxins A and B. 25% of patients had positive culture for C. difficile; 36/38 (92%) revealed positive cytopathic effect on HELA cells. No significant relation was found between age, gender, history of antibiotic consumption and C. difficile positive culture and cytopathic effect on HELA cells. The only relation was seen between cotrimoxazol usage and cytopathic effect on HELA cells (P=0.03).

Conclusion

Although the rate of C. difficile colonization (25.6%) and toxigenic strains (23.7%) in admitted children in hematologic ward is high, the rate of ELISA positive test for toxin A+B was not correspond with culture and cytopatic effect on HELA cell. With respect to sensitivity and specificity of ELISA test, possibility for existence of toxin C with cytopathic effect is high in this type of patients.     

Treatment with Probucol of Children with Familial Hypercholesterolemia

ABSTRACT. 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.     

Juvenile rheumatoid arthritis with myelofibrosis with myeloid metaplasia

Myelofibrosis with myeloid metaplasia is defined as a myeloproliferative disorder characterized by leukoerythroblastosis, tear drop erythrocytes, extramedullary hematopoesis and varying degree of myelofibrosis. It may be idiopathic or secondary to a large number of conditions. Here is a rare case of myelofibrosis occurring in a patient with juvenile rheumatoid arthritis.     

Therapeutic experience with hepatoblastoma associated with trisomy 18

Trisomy 18 is often fatal, but patients with this disease can now have longer survival due to proactive treatment intervention. However, hepatoblastomas may develop in these patients. In this study, we report four cases of hepatoblastoma associated with trisomy 18. All of the patients had congenital heart disease and three had undergone intracardiac surgical repair. Tumor growth was relatively slow in all cases, and there were no problems with chemotherapy tolerability and surgical resection. Three of the patients are currently disease‐free and the fourth is alive with remaining of the tumor. These cases suggest that combined chemotherapy and surgical resection may be an option to treat hepatoblastoma associated with trisomy 18 when cardiac pulmonary function is relatively stable.