Yale University Neuroscience and Regeneration Research Center, VA Connecticut Healthcare System, 950 Campbell Avenue, Building 34, West Haven, CT 06516, USA.
Nat Rev Neurol. 2011 Jan;7(1):51-5. doi: 10.1038/nrneurol.2010.162. Epub 2010 Nov 16.
a 3-month-old male infant presented, beginning on the second day of life, with paroxysmal painful events that started with tonic contraction of the whole body followed by erythematous harlequin-type color changes.
screening of the SCN9A gene, which encodes the voltage-gated sodium channel Na(V)1.7, identified a new mutation, Gly1607Arg, located within the domain IV S4 voltage sensor. Whole-cell patch-clamp analysis demonstrated functional effects of the mutant channel that included impaired inactivation-a hallmark of paroxysmal extreme pain disorder (PEPD).
the patient was diagnosed as having PEPD, an autosomal dominant disorder characterized by severe rectal pain triggered by defecation or perineal stimulation, usually followed by ocular or submaxillary pain. Erythematous flushing, sometimes in a harlequin pattern, can be a prominent feature of this condition.
treatment with carbamazepine (10 mg/kg/day) for approximately 3 months was ineffective in this case, and the parents made a decision to discontinue the drug. The mother was instructed to avoid painful stimuli that could trigger an episode.
一名 3 个月大的男性婴儿，从出生第二天开始出现阵发性疼痛事件，最初表现为全身强直性收缩，随后出现红斑性“丑角样”变色。
对 SCN9A 基因（编码电压门控钠离子通道 Na(V)1.7）进行筛查，发现了一个新的突变，甘氨酸 1607 突变为精氨酸（Gly1607Arg），位于域 IV S4 电压传感器内。全细胞膜片钳分析显示，突变通道具有功能效应，包括失活受损——这是阵发性极度疼痛障碍（PEPD）的标志。
该患者被诊断为 PEPD，这是一种常染色体显性遗传病，其特征为严重的直肠疼痛，由排便或肛周刺激引起，通常随后出现眼部或下颌疼痛。红斑性潮红，有时呈“丑角样”模式，是这种情况的一个显著特征。
本例患儿使用卡马西平（10 mg/kg/天）治疗约 3 个月无效，家长决定停药。嘱患儿母亲避免可能引发发作的疼痛刺激。
