Rivera Serge, Villega Frédéric, de Saint-Martin Anne, Matis Jacqueline, Escande Benoît, Chaigne Denys, Astruc Dominique
Service de Réanimation Néonatale, Pédiatrie 2, Hôpitaux Universitaires de Strasbourg, 1 avenue Molière, 67098 Strasbourg, France.
Eur J Pediatr. 2006 Feb;165(2):104-7. doi: 10.1007/s00431-005-0015-x. Epub 2005 Oct 7.
We report fives sporadic cases of hyperekplexia or startle disease characterized by a highly exaggerated startle reflex and tonic attacks. Affected neonates suffer from prolonged periods of stiffness and are at risk for sudden death from apnea. An early diagnosis is needed. Sudden loud sounds, unexpected tactile stimuli or percussion at the base of the nose can also elicit excessive jerking or tonic attack. The diagnosis of hyperekplexia is a purely clinical one. A defect of the alpha1 subunit of inhibitory glycine receptor (GLRA1) has been observed in the dominant form with a mutation in the chromosome 5. Clonazepam is effective and decreases the severity of the symptoms. The disease tends to improve after infancy and the psychomotor development is normal. The major form of "hyperekplexia" should be considered whenever one is confronted with neonatal hypertonicity associated with paroxysmal tonic manifestations (without electroencephalography anomalies).
the diagnosis of hyperekplexia should be evaluated in any neonate with tonic attacks without evident cause.
我们报告了5例散发性的僵人综合征或惊吓病病例，其特征为高度夸张的惊吓反射和强直性发作。受影响的新生儿会出现长时间的僵硬，并有因呼吸暂停而猝死的风险。需要早期诊断。突然的巨响、意外的触觉刺激或鼻根部的叩击也可引发过度抽搐或强直性发作。僵人综合征的诊断完全基于临床。在显性形式中观察到抑制性甘氨酸受体（GLRA1）的α1亚基缺陷，伴有5号染色体突变。氯硝西泮有效，可减轻症状严重程度。该病在婴儿期后往往会改善，且精神运动发育正常。每当遇到与阵发性强直性表现相关的新生儿高张力（无脑电图异常）时，都应考虑“僵人综合征”的主要形式。
对于任何无明显原因出现强直性发作的新生儿，都应评估其是否为僵人综合征。
