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婴儿和儿童惊厥发作的临床和实验室诊断

Author
Angus Wilfong, MD
Section Editor
Douglas R Nordli, Jr, MD
Deputy Editor
April F Eichler, MD, MPH
Translators
金欣俐, 主任医师，教授

引言

本专题将重点论述与婴儿和儿童惊厥评估有关的体格和神经系统检查、影像学检查及实验室检查方面的内容。详细的儿科神经系统检查、伴惊厥发作的急性疾病，以及热性惊厥将单独讨论。

病史

大多数惊厥儿童存在一种神经系统检查和神经影像学检查正常的特发性疾病。因此，详细的病史采集是准确诊断的基础。详细描述儿童在“发作”前、“发作”期间及“发作”后的行为至关重要。这种描述可能需要随访目击者或电话随访实际看见“惊厥发作”的个体(如老师)。内科医生应记得让儿童参与谈话；儿童患者常能提供有价值的信息。

医生可让父母或目击者模仿惊厥事件，或医生可表演不同种类的惊厥发作，以便找到与该儿童患者的发作相吻合的类型。家庭成员或患儿最初就诊的医生经常会将发作简单描述为一种惊厥“大发作”或“小发作”。医生经常被告知患儿有“失神发作”或“跌倒且全身抖动”。这些描述不足以获得确定性诊断。

在没有采集患儿病史的情况下，医生不应采纳之前的“惊厥”诊断。医生应要求病史陈述者描述惊厥发作的严重程度(即从最轻度到最严重)。通常在发生惊厥大发作(即全面强直-阵挛性发作)之前，存在与惊厥小发作中相同的症状，这可证实所怀疑的部分性或局灶性惊厥发作继发全面发作。   然而，某些儿童存在两个或两个以上的惊厥发作类型。在粗略采集的病史中，可能会遗漏在更显著的事件之前发生的短暂局灶性体征或先兆，或在惊厥发作之后出现的重要的定位性症状。在全面强直-阵挛性惊厥发作之前，可能发生一侧面部短暂的颤搐，随后发生符合言语障碍的短暂性语言异常，这支持来自优势半球的部分惊厥发作继发全面发作的诊断。

发作时的环境情况 — 大多数惊厥发作随机出现，没有预警表现。相比之下，许多非痫性发作有特定的诱发环境，或发生于特定位置。确定患儿惊厥发作的时间以及在惊厥发作前患儿正在进行的活动很重要。

                    

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Literature review current through: 2017-07 . | This topic last updated: 2016-08-22.
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References
Top
  1. MINCEP Epilepsy Reports. Published by the Minnesota Comprehensive Epilepsy Program, Minneapolis, Minnesota. 2000; Vol IX, Number 1.
  2. Martin ET, Kerin T, Christakis DA, et al. Redefining outcome of first seizures by acute illness. Pediatrics 2010; 126:e1477.
  3. Cai S, Hamiwka LD, Wirrell EC. Peri-ictal headache in children: prevalence and character. Pediatr Neurol 2008; 39:91.
  4. Fogarasi A, Tuxhorn I, Hegyi M, Janszky J. Predictive clinical factors for the differential diagnosis of childhood extratemporal seizures. Epilepsia 2005; 46:1280.
  5. Fogarasi A, Janszky J, Tuxhorn I. Peri-ictal lateralizing signs in children: blinded multiobserver study of 100 children < or =12 years. Neurology 2006; 66:271.
  6. Walczak TS, Bogolioubov A. Weeping during psychogenic nonepileptic seizures. Epilepsia 1996; 37:208.
  7. Flügell, D, Bauer, J, Käseborn, U, et al. Closed Eyes during a seizure indicate psychogenic etiology: A study with suggestive seizure provocation. J Epilepsy 1996; 9:165.
  8. Korff CM, Nordli DR Jr. Paroxysmal events in infants: persistent eye closure makes seizures unlikely. Pediatrics 2005; 116:e485.
  9. Fastenau PS, Johnson CS, Perkins SM, et al. Neuropsychological status at seizure onset in children: risk factors for early cognitive deficits. Neurology 2009; 73:526.
  10. Caplan R, Siddarth P, Vona P, et al. Language in pediatric epilepsy. Epilepsia 2009; 50:2397.
  11. Bhise VV, Burack GD, Mandelbaum DE. Baseline cognition, behavior, and motor skills in children with new-onset, idiopathic epilepsy. Dev Med Child Neurol 2010; 52:22.
  12. Kerr MP, Mensah S, Besag F, et al. International consensus clinical practice statements for the treatment of neuropsychiatric conditions associated with epilepsy. Epilepsia 2011; 52:2133.
  13. Rai D, Kerr MP, McManus S, et al. Epilepsy and psychiatric comorbidity: a nationally representative population-based study. Epilepsia 2012; 53:1095.
  14. Sherman EM, Brooks BL, Fay-McClymont TB, MacAllister WS. Detecting epilepsy-related cognitive problems in clinically referred children with epilepsy: is the WISC-IV a useful tool? Epilepsia 2012; 53:1060.
  15. Modi AC, King AS, Monahan SR, et al. Even a single seizure negatively impacts pediatric health-related quality of life. Epilepsia 2009; 50:2110.
  16. Benavente-Aguilar I, Morales-Blánquez C, Rubio EA, Rey JM. Quality of life of adolescents suffering from epilepsy living in the community. J Paediatr Child Health 2004; 40:110.
  17. Ronen GM, Streiner DL, Rosenbaum P, Canadian Pediatric Epilepsy Network. Health-related quality of life in children with epilepsy: development and validation of self-report and parent proxy measures. Epilepsia 2003; 44:598.
  18. Hamiwka L, Singh N, Niosi J, Wirrell E. Perceived health in children presenting with a "first seizure". Epilepsy Behav 2008; 13:485.
  19. MacCormick JM, McAlister H, Crawford J, et al. Misdiagnosis of long QT syndrome as epilepsy at first presentation. Ann Emerg Med 2009; 54:26.
  20. Pavone L, Curatolo P, Rizzo R, et al. Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy. Neurology 1991; 41:266.
  21. Gordon N. Hypomelanosis of Ito (incontinentia pigmenti achromians). Dev Med Child Neurol 1994; 36:271.
  22. Gilbert DL, DeRoos S, Bare MA. Does sleep or sleep deprivation increase epileptiform discharges in pediatric electroencephalograms? Pediatrics 2004; 114:658.
  23. DeRoos ST, Chillag KL, Keeler M, Gilbert DL. Effects of sleep deprivation on the pediatric electroencephalogram. Pediatrics 2009; 123:703.
  24. Veldhuizen R, Binnie CD, Beintema DJ. The effect of sleep deprivation on the EEG in epilepsy. Electroencephalogr Clin Neurophysiol 1983; 55:505.
  25. Wassmer E, Quinn E, Seri S, Whitehouse W. The acceptability of sleep-deprived electroencephalograms. Seizure 1999; 8:434.
  26. Sadleir LG, Scheffer IE. Optimizing electroencephalographic studies for epilepsy diagnosis in children with new-onset seizures. Arch Neurol 2010; 67:1345.
  27. Liamsuwan S, Grattan-Smith P, Fagan E, et al. The value of partial sleep deprivation as a routine measure in pediatric electroencephalography. J Child Neurol 2000; 15:26.
  28. King MA, Newton MR, Jackson GD, et al. Epileptology of the first-seizure presentation: a clinical, electroencephalographic, and magnetic resonance imaging study of 300 consecutive patients. Lancet 1998; 352:1007.
  29. Carpay JA, de Weerd AW, Schimsheimer RJ, et al. The diagnostic yield of a second EEG after partial sleep deprivation: a prospective study in children with newly diagnosed seizures. Epilepsia 1997; 38:595.
  30. Salinsky M, Kanter R, Dasheiff RM. Effectiveness of multiple EEGs in supporting the diagnosis of epilepsy: an operational curve. Epilepsia 1987; 28:331.
  31. Camfield P, Gordon K, Camfield C, et al. EEG results are rarely the same if repeated within six months in childhood epilepsy. Can J Neurol Sci 1995; 22:297.
  32. Betting LE, Mory SB, Lopes-Cendes I, et al. EEG features in idiopathic generalized epilepsy: clues to diagnosis. Epilepsia 2006; 47:523.
  33. Okubo Y, Matsuura M, Asai T, et al. Epileptiform EEG discharges in healthy children: prevalence, emotional and behavioral correlates, and genetic influences. Epilepsia 1994; 35:832.
  34. Cavazzuti GB, Cappella L, Nalin A. Longitudinal study of epileptiform EEG patterns in normal children. Epilepsia 1980; 21:43.
  35. Borusiak P, Zilbauer M, Jenke AC. Prevalence of epileptiform discharges in healthy children--new data from a prospective study using digital EEG. Epilepsia 2010; 51:1185.
  36. Arthur TM, deGrauw TJ, Johnson CS, et al. Seizure recurrence risk following a first seizure in neurologically normal children. Epilepsia 2008; 49:1950.
  37. Berg AT, Mathern GW, Bronen RA, et al. Frequency, prognosis and surgical treatment of structural abnormalities seen with magnetic resonance imaging in childhood epilepsy. Brain 2009; 132:2785.
  38. Hsieh DT, Chang T, Tsuchida TN, et al. New-onset afebrile seizures in infants: role of neuroimaging. Neurology 2010; 74:150.
  39. Gaillard WD, Chiron C, Cross JH, et al. Guidelines for imaging infants and children with recent-onset epilepsy. Epilepsia 2009; 50:2147.
  40. Spooner CG, Berkovic SF, Mitchell LA, et al. New-onset temporal lobe epilepsy in children: lesion on MRI predicts poor seizure outcome. Neurology 2006; 67:2147.
  41. Harden CL, Huff JS, Schwartz TH, et al. Reassessment: neuroimaging in the emergency patient presenting with seizure (an evidence-based review): report of the Therapeutics and Technology Assessment Subcommittee of the American Academy of Neurology. Neurology 2007; 69:1772.
  42. Parikh S, Cohen BH, Gupta A, et al. Metabolic testing in the pediatric epilepsy unit. Pediatr Neurol 2008; 38:191.
  43. Musumeci SA, Hagerman RJ, Ferri R, et al. Epilepsy and EEG findings in males with fragile X syndrome. Epilepsia 1999; 40:1092.
  44. Singh R, Sutherland GR, Manson J. Partial seizures with focal epileptogenic electroencephalographic patterns in three related female patients with fragile-X syndrome. J Child Neurol 1999; 14:108.
  45. Valente KD, Koiffmann CP, Fridman C, et al. Epilepsy in patients with angelman syndrome caused by deletion of the chromosome 15q11-13. Arch Neurol 2006; 63:122.
  46. Armangue T, Petit-Pedrol M, Dalmau J. Autoimmune encephalitis in children. J Child Neurol 2012; 27:1460.
  47. Suleiman J, Wright S, Gill D, et al. Autoantibodies to neuronal antigens in children with new-onset seizures classified according to the revised ILAE organization of seizures and epilepsies. Epilepsia 2013; 54:2091.
  48. De Vivo DC, Trifiletti RR, Jacobson RI, et al. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med 1991; 325:703.
  49. Akman CI, Engelstad K, Hinton VJ, et al. Acute hyperglycemia produces transient improvement in glucose transporter type 1 deficiency. Ann Neurol 2010; 67:31.
  50. Yang H, Wang D, Engelstad K, et al. Glut1 deficiency syndrome and erythrocyte glucose uptake assay. Ann Neurol 2011; 70:996.
  51. Mullen SA, Suls A, De Jonghe P, et al. Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. Neurology 2010; 75:432.
  52. Striano P, Weber YG, Toliat MR, et al. GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy. Neurology 2012; 78:557.
  53. Ottman R, Hirose S, Jain S, et al. Genetic testing in the epilepsies--report of the ILAE Genetics Commission. Epilepsia 2010; 51:655.