Paroxysmal extreme pain disorder in family with c.3892G > T (p.Val1298Phe) in the SCN9A gene mutation – case report

BMC Neurology

卷:20

Daria Sałacińska¹  Jacek Staszewski¹  Marta Durka-Kęsy¹  Adam Stępień¹  Jan Dobrogowski² 

[1] Department of Neurology, Military Institute of Medicine;

[2] Department of Pain Research and Treatment, Chair of Anesthesiology and Intensive Therapy Jagiellonian University College of Medicine;

关键词: Paroxysmal extreme pain disorder;    SCN9A gene mutation;   

DOI  :  10.1186/s12883-020-01770-9

来源: DOAJ

【 摘 要 】

Abstract Background To describe the clinical phenotype of paroxysmal extreme pain disorder, an autosomal dominant condition in four members in one family with the mutation NM_002977.3:c.3892G > T (p.Val1298Phe) in the SCN9A gene. Clinical examinations and details from members of one Polish family were collected, including age at onset, features of attacks, problems between attacks, investigational results, treatments tried, and evolution over time. Case presentation Twenty two individuals from this family with paroxysmal extreme pain disorder were identified. Seven of them presented clinical manifestation of paroxysmal extreme pain disorder, of which and in four were identified missens mutations in the SCN9A gene (NM_002977.3:c.3892G > T). The onset of the disorder took place in the neonatal period or infancy and persists throughout life. Autonomic manifestations predominate with extreme pain, skin flushing and harlequin colour change were observed in all. Attacks of excruciating deep burning pain often appear in the rectal, or jaw areas, but also diffuse in the body. Attacks are triggered by factors such as: defecation, eating, pressure and emotion. Carbamazepine and other antiepileptic drugs were only partly effective in almost all, but the response was incomplete. Conclusions Paroxysmal extreme pain disorder is a hereditary sodium channelopathy with pain and an autonomic nervous system dysfunction. Paroxysmal extreme pain disorder is rare, so far only 500 cases of both women and men have been described in world literature.

【 授权许可】

Unknown