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Open Access 01-12-2015 | Research article

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

Authors: Noboru Imai, Noriko Miyake, Yoshiaki Saito, Emiko Kobayashi, Masako Ikawa, Shinya Manaka, Masaaki Shiina, Kazuhiro Ogata, Naomichi Matsumoto

Published in: The Journal of Headache and Pain | Issue 1/2015

Abstract

Background

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.

Methods

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.

Results

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 Na_v1.7.

Conclusions

Gain-of-function mutations in Na_v1.7 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.

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Title: Short-lasting unilateral neuralgiform headache attacks with ispilateral facial flushing is a new variant of paroxysmal extreme pain disorder
Authors: Noboru Imai
Noriko Miyake
Yoshiaki Saito
Emiko Kobayashi
Masako Ikawa
Shinya Manaka
Masaaki Shiina
Kazuhiro Ogata
Naomichi Matsumoto
Publication date: 01-12-2015
Publisher: Springer Milan
Published in: The Journal of Headache and Pain / Issue 1/2015
Print ISSN: 1129-2369
Electronic ISSN: 1129-2377
DOI: https://doi.org/10.1186/s10194-015-0519-3

At a glance: The STEP trials

Springer Medicine

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

Abstract

Background

Methods

Results

Conclusions

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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