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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
- 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 Nav1.7. Conclusions: 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.
- Subjects
MIGRAINE diagnosis; ARM; ATTRIBUTION (Social psychology); ELECTRIC stimulation; ELECTROPHYSIOLOGY; EYE; GENETIC polymorphisms; JAWS; MEMBRANE proteins; GENETIC mutation; MIGRAINE; FACIAL neuralgia; NOSE; RECTUM; TRIGEMINAL nerve; PHENOTYPES; SEVERITY of illness index; FAMILY history (Medicine); ROUTINE diagnostic tests; SEQUENCE analysis; SYMPTOMS; GENETICS
- Publication
Journal of Headache & Pain, 2015, Vol 16, p1
- ISSN
1129-2369
- Publication type
Article
- DOI
10.1186/s10194-015-0519-3