Short-lasting unilateral neuralgiform headache attacks with ispilateral facial flushing is a new variant of paroxysmal extreme pain disorder

The Journal of Headache and Pain

Research Article

Kazuhiro Ogata¹  Masaaki Shiina¹  Emiko Kobayashi²  Yoshiaki Saito³  Noriko Miyake⁴  Naomichi Matsumoto⁴  Noboru Imai⁵  Shinya Manaka⁶  Masako Ikawa⁷ 

[1] Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan;Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan;Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan;Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan;Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, 236-0004, Yokohama, Japan;Department of Neurology, Japanese Red Cross Shizuoka Hospital, 8-2 Ohtemachi, Aoi-ku, 420-0853, Shizuoka, Shizuoka, Japan;Department of Neurosurgery, Manaka Hospital, Kanagawa, Japan;Department of Oral Surgery, Shizuoka-Shimizu Municipal Hospital, Shizuoka, Japan;

关键词: Unilateral headache;    Facial flushing;    SCN9A;    Paroxysmal extreme pain disorder;    Voltage-gated sodium channel;    Focal hyperperfusion;   

DOI  :  10.1186/s10194-015-0519-3

 received in 2015-02-24, accepted in 2015-04-15,  发布年份 2015

来源: Springer

【 摘 要 】

BackgroundWe 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.MethodsWe performed routine laboratory examinations and electrophysiological and radiological studies for three children, and whole-exome sequencing to determine the genetic causality in this family.ResultsFocal 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.ConclusionsGain-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.

【 授权许可】

CC BY   
© Imai et al.; licensee Springer. 2015. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited.