Short-lasting unilateral neuralgiform headache attacks with ispilateral facial flushing is a new variant of paroxysmal extreme pain disorder.
Short-lasting unilateral neuralgiform headache attacks with ispilateral facial flushing is a new variant of paroxysmal extreme pain disorder.
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短暂的单侧神经痛样头痛发作并伴有同侧面部潮红是阵发性极度疼痛症的一种新变体。
DOI：
10.1186/s10194-015-0519-3
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发表时间：
2015
期刊：
影响因子：
--
通讯作者：
Matsumoto N
中科院分区：
文献类型：
--
作者：
Imai N;Miyake N;Saito Y;Kobayashi E;Ikawa M;Manaka S;Shiina M;Ogata K;Matsumoto N
我们遇到了一名5岁女孩，她有短暂、严重的单侧颞部头痛，并伴有同侧泪水、鼻塞和鼻涕，以及在严重发作后脸红。家族病史显示，哥哥、妹妹、母亲、阿姨和外祖父的兄弟也有类似的短暂、严重的头痛。我们对三名儿童进行了常规实验室检查、电生理和放射学研究，以及全外显子组测序，以确定该家族的遗传因果关系。1名儿童右侧发作时可见右侧三叉神经根进入区局灶性过度灌流，另1名儿童左侧颞叶头痛发作是由双侧上肢电刺激引起的。我们在所有受影响的家庭成员中发现了一个新的SCN9A突变(NM_002977：C.5218G>；C，p.Val1740Leu)，但在所有未受影响的家庭成员中均未发现。SCN9A编码被称为Nav1.7的电压门控钠通道类型IXα亚基。众所周知，Nav1.7的功能获得突变会导致阵发性极端疼痛障碍(PEPD)，这是一种痛性的钠通道病，特征是直肠、眼睛或颌部发生剧烈的深度灼痛。SCN9A突变提示我们的患者具有PEPD的表型，其主要症状是短暂、严重的单侧头痛。本文的在线版本(doi：10.1186/s10194-0150519-3)包含补充材料，授权用户可以使用。
We encountered a 5-year-old girl who had short-lasting, severe, unilateral temporal headaches with ipsilateral lacrimation, nasal congestion and rhinorrhoea, and facial flushing after severe attacks. Family history revealed similar short-lasting, severe headaches in an older brother, younger sister, mother, maternal aunt, and maternal grandfather’s brother. We performed routine laboratory examinations and electrophysiological and radiological studies for three children, and whole-exome sequencing to determine the genetic causality in this family. Focal hyperperfusion of the right trigeminal root entry zone was seen during a right-sided attack in one child, while left-sided temporal headache attacks were provoked by bilateral electrical stimulation of the upper extremities in another. We identified a novel SCN9A mutation (NM_002977: c.5218G>C, p.Val1740Leu) in all affected family members, but not in any of the unaffected members. SCN9A encodes the voltage-gated sodium-channel type IX alpha subunit known as Nav1.7. Gain-of-function mutations in Nav1.7 are well known to cause paroxysmal extreme pain disorder (PEPD), a painful Na-channelopathy characterized by attacks of excruciating deep burning pain in the rectal, ocular, or jaw areas. The SCN9A mutation suggests that our patients had a phenotype of PEPD with a predominant symptom of short-lasting, severe, unilateral headache. The online version of this article (doi:10.1186/s10194-015-0519-3) contains supplementary material, which is available to authorized users.
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影响因子：
11.2
作者：
Faber, Catharina G.;Hoeijmakers, Janneke G. J.;Merkies, Ingemar S. J.
通讯作者：
Merkies, Ingemar S. J.
影响因子：
4.4
作者：
Dabby, Ron;Sadeh, Menachem;Leshinsky-Silver, Esther
通讯作者：
Leshinsky-Silver, Esther
影响因子：
7.4
作者：
Sprenger, T;Valet, M;Tolle, TR
通讯作者：
Tolle, TR
影响因子：
64.8
作者：
Payandeh, Jian;Scheuer, Todd;Zheng, Ning;Catterall, William A.
通讯作者：
Catterall, William A.
DOI：
10.1001/archpedi.1959.02070010481013
发表时间：
1959-01-01
期刊：
AMA JOURNAL OF DISEASES OF CHILDREN
影响因子：
--
作者：
HAYDEN, R;GROSSMAN, M
通讯作者：
GROSSMAN, M