Diagnosis delay in West syndrome: misdiagnosis and consequences
Diagnosis delay in West syndrome: misdiagnosis and consequences
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DOI：
10.1007/s00431-012-1813-6
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发表时间：
2012-11-01
影响因子：
3.6
通讯作者：
Titomanlio, Luigi
中科院分区：
文献类型：
--
作者：
Auvin, Stephane;Hartman, Adam L.;Titomanlio, Luigi
韦斯特综合征或婴儿痉挛是生命第一年最常见的癫痫综合征之一。婴儿痉挛的临床症状与任何其他类型的癫痫发作非常不同，因为既没有阵发性运动现象（如抽搐），也没有明显的持续时间的意识丧失（如缺乏性癫痫）。婴儿痉挛可能导致儿科医生和其他初级保健提供者的误诊。我们评估了在诊断婴儿痉挛之前的漏诊。我们假设延迟治疗可能对神经系统预后有影响。我们进行了一项多中心、回顾性、观察性研究，以评估误诊的发生率及其可能的后果。我们进行了一项多变量分析，以评估诊断为婴儿痉挛2年后结局的风险。我们纳入了83名5年内的婴儿。大多数咨询医生（362名中的301名）没有提出任何具体的诊断建议，而其他医生则建议胃食管反流（7%）、便秘（7%）或结肠炎（3%）。结果表明，不良预后与诊断延迟有关，这与婴儿痉挛开始前是否存在认知受累无关（相对风险：RR 12.08[1.52-96.3]）。这些结果强调了早期诊断婴儿痉挛的重要性。
West syndrome or infantile spasms is one of the most frequent epileptic syndromes in the first year of life. The clinical symptoms of infantile spasms are very different than any other type of seizure because of both the absence of paroxysmal motor phenomena (i.e., as in a convulsion) and the lack of significant duration of loss of consciousness (i.e., as in absence epilepsy). Infantile spasms may lead to misdiagnosis by pediatricians and other primary care providers. We assessed the missed diagnoses prior to the diagnosis of infantile spasms. We hypothesized that a delay in treatment may have consequences on neurologic outcome. We conducted a multicenter, retrospective, observational study to evaluate occurrence of misdiagnosis and its possible consequences. We performed a multivariate analysis to evaluate the risk for the outcome 2 years after the diagnosis of infantile spasms. We included 83 infants over a 5-year period. The majority of consulted physicians (301 of 362) did not suggest any specific diagnosis while the others suggested gastroesophageal reflux (7 %), constipation (7 %), or colitis (3 %). Results indicated that a poor outcome was related to a delay in diagnosis, which was observed regardless of the existence of cognitive involvement prior to the start of infantile spasms (Relative Risk: RR 12.08 [1.52-96.3]). These results highlight the importance of making an early diagnosis of infantile spasms.