Febrile seizures

Febrile seizures (FS) are the most common seizure disorder in childhood, affecting 2–5% of children between the ages of 3 and 60 months. Differentiation of FS from acute symptomatic seizures secondary to central nervous system infection is essential. Those with a focal onset, prolonged duration or which occur more than once within the same febrile illness are considered complex and have an increase in risk of subsequent epilepsy development. The vast majority of febrile convulsions are simple, lasting only a few minutes and without need of drug intervention. They have an excellent outcome with no increased risk of decline in IQ, subsequent epilepsy or increased mortality. Febrile seizure can recur, and as it often is a frightening and anxiety-provoking event for parents and caregivers, an understanding of the natural history and prognosis should enable the physician to reassure the parents providing an appropriate counselling and reassurance.
Conclusion: Febrile seizure can recur, and as it often is a frightening and anxiety-provoking event for parent and caregivers. An understanding of the natural history and prognosis should enable the physician to reassure the parents providing an appropriate counselling and reassurance.     

Assessment of febrile seizures in children

Febrile seizures are the most common form of childhood seizures, affecting 2–5% of all children and usually appearing between 3 months and 5 years of age. Despite its predominantly benign nature, a febrile seizure (FS) is a terrifying experience for most parents. The condition is perhaps one of the most prevalent causes of admittance to pediatric emergency wards worldwide. FS, defined as either simple or complex, may be provoked by any febrile bacterial or (more usually) viral illness. No specific level of fever is required to diagnose FS. It is essential to exclude underlying meningitis in all children with FS, either clinically or, if any doubt remains, by lumbar puncture. There is no evidence, however, to support routine lumbar puncture in all children admitted with simple FS, especially when typical clinical signs of meningitis are lacking. The risk of epilepsy following FS is 1–6%. The association, however small, between FS and epilepsy may demonstrate a genetic link between FS and epilepsy rather than a cause and effect relationship. The effectiveness of prophylactic treatment with medication remains controversial. There is no evidence of the effectiveness of antipyretics in preventing future FS. Prophylactic use of paracetamol, ibuprofen or a combination of both in FS, is thus a questionable practice. There is reason to believe that children who have experienced a simple FS are over-investigated and over-treated. This review aims to provide physicians with adequate knowledge to make rational assessments of children with febrile seizures.     

Fieberkrämpfe und Epilepsie

An epileptic seizure is seen in about 3% of all pediatric febrile seizure patients. This risk is lower in children with simple febrile seizures but increases for complex febrile seizures, depending on the number of complexity factors, from 4% to 49%. Febrile seizures precede various forms of epilepsy in the majority of cases. Newborns with benign familial neonatal seizures have a higher prevalence of febrile seizures. Generalized epilepsies with febrile seizures plus (GEFS⁺) are important familial epileptic syndromes caused by channelopathies (voltage gated sodium channels and GABA_A receptors). GEFS⁺ is characterised by heterogeneous clinical phenotypes ranging from mild febrile seizures to severe myoclonic epilepsies of infancy (SMEI). There is also a slowing of the psychomotor development in SMEI patients.     

全面性癫痫伴热性惊厥附加症家系的临床分析

目的：探讨全面性癫癎伴热性惊厥附加症（GEFS+）的临床表型及遗传规律。方法：首先对15个GEFS+家系的先证者进行详细的问诊及体格检查,建立完善的家系图谱,部分患者行EEG、头颅CT或MRI检查,按照国际分类法对癫癎发作和癫癎综合征进行分类,然后进行临床分析。结果：15个家系共196名成员,75例患有癫癎,其中64例表型与GEFS+一致（1例去世）,男性38例,女性26例,性别差异无显著性（P>0.05）。发作起始年龄均在儿童期。表现为热性惊厥(FS)者44例,FS伴肌阵挛1例,热性惊厥附加症(FS+)者13例,FS+伴失神发作2例,FS+伴肌阵挛1例,FS+伴局灶性发作3例。结论：GEFS+具有表型异质性和遗传异质性,常见表型为FS和FS+,少见的表型为FS+伴失神发作、FS+伴肌阵挛发作、FS+伴局灶性发作等。GEFS+家系中父母一方患病,男女发病机率均等,符合常染色体显性遗传。［中国当代儿科杂志,2007,9（5）：436-440］     

全面性癫(癎)伴热性惊厥附加症的临床表型和SCN1A基因筛查研究

目的 分析全面性癫(癎)伴热性惊厥附加症(generalized epilepsies with febrile seizures plus,GEFS+)的临床特点,并对部分患者进行SCNIA基因筛查,寻找基因突变.方法 收集两个GEFS+家系的临床资料,并进行分析;留取先证者和部分家系成员的血液标本,通过变性高效液相色谱法(denaturing hish performance liquid chromatography,DHPLC)等方法进行SCNIA基因筛查、测序及序列分析.结果 (1)两个家系共101名成员,其中受累者28例(男、女各14例).发作表型有热性惊厥(FS)7例、热性惊厥附加症(FS+)6例、FS+伴失神发作1例、FS+伴肌阵挛发作1例.未发现严重发作表型.另外,有肯定的临床发作,但由于不能获得详细的临床资料而不能进行发作分类者13例;两个家系都符合常染色体显性遗传,其中一个家系存在双系遗传现象.(2)GEFS+家系B的先证者和家系正常对照均发现SCN1A第9外显子存在A>G突变(c.1212A>G),系一多态性位点;SCN1A其余外显子未发现突变.结论 本研究在GEFS+家系B仅发现G/A多态现象,未发现SCN1A致病性突变,支持其遗传异质性;病因学有待进一步研究.     

热敏感相关癫痫的早期识别与诊断

热性惊厥是儿童期最常见的神经系统疾病，多数患儿预后良好。但一些癫痫易于被发热诱发，具有"热敏感"的特点，且早期不易与热性惊厥鉴别。热敏感相关癫痫包括遗传性癫痫伴热性惊厥附加症、Dravet综合征、PCDH19基因相关癫痫等。该文主要综述这三种癫痫的临床表现，总结起病早期的临床特点，以期早期识别、早期诊断、早期干预，从而达到改善预后的目的。     

热性惊厥发病机制及干预治疗的研究进展

热性惊厥是一种常见的小儿神经系统惊厥性疾病。临床上分为单纯性热性惊厥及复杂性热性惊厥。目前已在热性惊厥的定义、病因、发病机制、治疗和远期预后等方面进行了广泛而深入的研究，但尚存争议。该文就近年热性惊厥在遗传学、离子通道、免疫学、神经递质机制及治疗、预防对策等方面的研究进展进行综述，旨在提高广大医务人员对该病的正确认识。     

Continuous phenobarbital treatment after a 'simple febril convulsion'

In only a small proportion of young children with brief, generalized, febrile convulsions do afebrile seizures develop, but this fraction is several times the prevalence of epilepsy in an unselected population. The risk of another febrile convulsion is approximately 30%. Febrile status epilepticus during a subsequent infection is a potential source of serious morbidity and mortality. Intermittent phenobarbital administration during subsequent, febrile illnesses confers little protection against recurrent, febrile convulsions. Continuous phenobarbital administration during the preschool years is indicated for most children who have had a simple febrile convulsion.     

Recent Advances in Febrile Seizures

Febrile seizures are the most common seizures of childhood. A family history of febrile seizures is common, and the disorder is genetically heterogenous. While guidelines are available for management of simple febrile seizures, the management of complex febrile seizures is individualised. After a febrile seizure, it is important to rule out CNS infection and the decision to perform a lumbar puncture should be based on the clinical condition of the child. Neuroimaging and EEG are not required immediately in workup for simple or complex febrile seizures. Recurrence of febrile seizures may be managed at home by the parents with benzodiazepines. If the recurrences are multiple or prolonged and parents are unable to give home treatment, intermittent benzodiazepine prophylaxis may be given. Continuous antiepileptic prophylaxis may be given only to the children where intermittent prophylaxis has failed. Febrile seizures are also associated with increased risk of epilepsy, but this cannot be prevented by any form of treatment. There is also an increased risk of mesial temporal sclerosis, but whether this is an effect or cause of febrile seizures is as yet unclear. There is no increase in neurological handicaps or mortality following febrile seizures.     

伴高热惊厥史的儿童癫痌病例分析

分析伴高热惊厥史的癫痌患儿的临床特点,探讨高热惊厥脑损伤及其与颞叶癫痌的关系。 方法对1996～1999年本院儿科神经病房480例住院癫痌患儿进行回顾性分析,包括首发年龄、家族史、持续时 间、癫痌发作类型、神经影像学及脑电图改变等。结果115例(23.9％)患儿有前期高热惊厥史。伴高热惊厥史 的患儿癫痌发作早且易于出现癫痌持续状态。与无高热惊厥史的患儿相比,伴高热惊厥史的患儿强直-阵挛发作 较多,复杂部分性发作较少。408例患儿曾行影像学检查,4例提示有海马硬化者均无高热惊厥史。在伴高热惊厥史 的癫痌患儿中脑电图局灶起源的异常放电显著低于无高热惊厥史的癫痌患儿。有6.08％(7/115)伴高热惊厥史的癫 痌惠儿和6.84％(25/365)无高热惊厥史的癫痌患儿脑电图表现为单纯颞叶异常放电,二组相比无明显差异。结论 在癫痌患儿中,高热惊厥可能伴有脑损伤,且可能与后期的癫痌发生有关,伴高热惊厥史者不一定发展为颞叶癫痌。     

Febrile status epilepticus

As part of a study of status epilepticus in children (Maytal J, Shinnar S, Moshe SL, Alvarez LA. Pediatrics. 1989; 83:323-331); 44 children with febrile convulsions lasting more than 30 minutes were followed for a mean of 28 months (range 4 to 72). Thirty children were followed prospectively. Children with prior afebrile seizures or evidence of acute central nervous system infection were excluded. Nine (20%) children had prior neurological deficits. The duration of the febrile seizure was 0.5 to 1 hour in 41 cases (85%), 1 to 2 hours in 5 (10%), and greater than 2 hours in 2 children (5%). No child died or developed new neurological deficits following the seizures. The risk of recurrent seizures was increased, but only in the group with prior neurological abnormality. Six (66%) of these children had subsequent febrile seizures compared with 12 (34%) of the normal children (P = .08). Three (33%) had recurrent febrile status epilepticus compared with only 1 (3%) normal child (P = .023). The 2 children in the prospective arm of the study with recurrent febrile status epilepticus were both neurologically abnormal (P = .035). All 3 of the children who subsequently had afebrile seizures (2 prospective) were neurologically abnormal (P = .006 overall, P = .035 for prospective only). It is concluded that the occurrence of febrile status epilepticus in a neurologically impaired child is a risk factor for subsequent febrile as well as afebrile seizures. The occurrence of febrile status epilepticus in an otherwise normal child does not significantly increase the risk for subsequent febrile (brief or prolonged) or afebrile seizures in the first few years following the episode.     

975例儿科急诊惊厥病因分析

目的：探讨儿童惊厥的病因学分布规律及影响因素,提高儿科急诊对惊厥的评估、识别、干预及分流的水平,制定预防、管理及健康宣教的对策和措施。方法回顾性分析2013年10月至2014年10月广州市妇女儿童医疗中心（儿童院区）儿科急诊975例惊厥患儿的临床资料。结果975例惊厥患儿中病因排在前3位的分别是热性惊厥[588例（60.3％）]、癫痫[163例（16.7％）]、轻度胃肠炎并良性婴幼儿惊厥[111例（11.4％）]。按年龄段划分,其中＜1岁惊厥病因以热性惊厥[75例（34.1％）]和癫痫[75例（34.1％）]为主,其次为颅内感染[22例（10.0％）],1～6岁儿童期惊厥病因以热性惊厥为主[487例（70.3％）],其次为轻度胃肠炎并良性婴幼儿惊厥[97例（14.0％）],＞6岁儿童期惊厥病因仍以热性惊厥[26例（41.9％）]和癫痫[20例（32.3％）]为主。结论在儿童惊厥中,热性惊厥是所有年龄段的首位病因,对比以往的研究,癫痫和轻度胃肠炎并良性婴幼儿惊厥的比重增加,颅内感染的比重下降。快速准确地评估病情及识别病因对管理惊厥患儿起关键作用。     

Anoxic-epileptic seizures in Cornelia de Lange syndrome: Case report of epileptic seizures induced by obstructive apnea

We describe epileptic seizures including status epilepticus provoked by recurrent obstructive apnea in a child with Cornelia de Lange syndrome. From the age of 10 months, this boy had recurrent respiratory infections with obstructive apnea leading to cyanosis and loss of consciousness. Approximately, 25% of apneas were followed by clonic jerks usually lasting 10 min, but once status epilepticus. He never had unprovoked epileptic seizures. At first he was diagnosed with symptomatic epilepsy and given carbamazepine and phenobarbital, without benefit. Significant improvement occurred after his mother was taught to extract mucus from his upper airways before obstruction occurred. He is no longer on anti-epileptic drugs. With this management, he had only one episode of obstructive apnea followed by an epileptic component.The events in this child were anoxic-epileptic seizures, that is, epileptic seizures triggered by syncopes. Anoxic-epileptic seizures have not previously been described in Cornelia de Lange syndrome. This case illustrates that, even when recurrent epileptic seizures occur in patients with known structural cerebral pathology, the diagnosis of symptomatic epilepsy should not be uncritically accepted.     

Febrile seizures: clinical practice guideline for the long-term management of the child with simple febrile seizures

Febrile seizures are the most common seizure disorder in childhood, affecting 2% to 5% of children between the ages of 6 and 60 months. Simple febrile seizures are defined as brief (<15-minute) generalized seizures that occur once during a 24-hour period in a febrile child who does not have an intracranial infection, metabolic disturbance, or history of afebrile seizures. This guideline (a revision of the 1999 American Academy of Pediatrics practice parameter [now termed clinical practice guideline] "The Long-term Treatment of the Child With Simple Febrile Seizures") addresses the risks and benefits of both continuous and intermittent anticonvulsant therapy as well as the use of antipyretics in children with simple febrile seizures. It is designed to assist pediatricians by providing an analytic framework for decisions regarding possible therapeutic interventions in this patient population. It is not intended to replace clinical judgment or to establish a protocol for all patients with this disorder. Rarely will these guidelines be the only approach to this problem.     

Duration of recognized fever in febrile seizure predicts later development of epilepsy

Background: The current report examines the risk of and predictors for developing epilepsy in children with febrile seizure (FS). The present study addresses two factors that were previously identified as predictors of recurrent FS in previous reports: maximum temperature and duration of fever prior to the initial FS. Methods: Children aged 6 months–6 years with an initial simple FS were eligible for the study. The interview included questions about the child's illness, family history of seizures, and other exposure information. In particular, they were asked about the duration of recognized fever prior to the seizure. After the initial interview, parents were called every 3–4 months to ascertain whether any further seizures had occurred and the circumstances under which such seizures occurred. Follow up ≥3 years was attempted for all children. Statistical analysis was done with χ² test, Fisher's exact test, Mann–Whitney U‐tests and logistic regression analysis. Results: Five of 92 children (5.4%) experienced unprovoked seizures and were considered part of an epilepsy group. In four of these five patients, the duration of recognized fever prior to FS fell more than ±2.5 SD outside the distribution for the non‐epilepsy group. Either an unusually short or long recognized fever prior to the initial FS was associated with an increased risk of unprovoked seizures. Conclusions: The duration of recognized fever appears to provide useful information about the risk for the later development of epilepsy.     

Febrile seizures.

Febrile seizures are the most frequent of seizure disorders in childhood. Febrile seizures are most common in children between 6 months and 3 years of age, with a peak incidence at about 18 months. Approximately 30% to 40% of children who experience a febrile seizure will have a recurrence. The majority of febrile seizures occur within 24 hours of the onset of the fever. Febrile seizures can be simple or complex. Diagnostic studies are usually not necessary. Febrile seizures usually are self-limited, and intervention to stop the seizure often is unnecessary. When possible, the cause of the fever should be treated. Continuous preventative anticonvulsant therapy is not recommended for children with either simple or complex febrile seizures. The use of intermittent anticonvulsant therapy is not routinely indicated. Parental educational and counseling is important. The prognosis is excellent.     

Genetische Ursachen von Fieberkrämpfen

Genetic factors play an important role in the etiology of febrile seizures. In recent years, genes have been identified for several monogenic epilepsies in which febrile seizures are part of the clinical phenotype. Examples of epilepsies in which syndromic febrile seizures occur are generalized epilepsy with febrile seizures plus (GEFS⁺) and the Dravet syndrome. In temporal lobe epilepsy a genetic association between a history of febrile seizures and epilepsy is also being discussed. However, most febrile seizures have a polygenic not a monogenic background and are caused by a combination of several different genetic factors with non-genetic causes.     

癫癎和热性惊厥患儿血清褪黑素水平的变化及其临床意义

目的：探讨癫癎和热性惊厥患儿血清褪黑素水平的变化及其临床意义,为褪黑素用于癫癎和热性惊厥的治疗提供依据。方法：该研究分为对照组,即上呼吸道感染发热无惊厥患儿;热性惊厥组,其中又分为单纯性热性惊厥(SFS组)和复杂性热性惊厥(CFS组);癫癎组。采用酶联免疫吸附法(ELISA)分别测定各组血清褪黑素水平。结果：癫癎和复杂性热性惊厥患儿血清褪黑素水平分别为8.66±1.38和14.91±2.61 ng/L,均显著低于对照组的23.93±2.01 ng/L,差异有显著性(P<0.01),单纯性热性惊厥患儿血清褪黑素水平为20.72±2.54 ng/L,低于对照组,但差异无显著性意义(P>0.05);癫癎患儿血清褪黑素水平明显低于热性惊厥患儿,差异有显著性(P<0.01)。结论：癫癎和复杂性热性惊厥患儿血清褪黑素水平降低。补充外源性褪黑素可能是治疗儿童癫癎和热性惊厥的一个新途径。［中国当代儿科杂志,2009,11（4）：288-290］