Boy in the Barrel: Excruciating Paroxysmal Pain Disorder Associated With an SCN9A Gain-of-Function Variant.
Pedro Jose Tomaselli, Rodrigo Siqueira Soares Frezatti, Christopher J Record et al.
✦ AI-curated · Sources linked
Case in brief
A young man presented with severe childhood-onset paroxysmal pain triggered by heat, alongside autonomic dysfunction and skeletal abnormalities. Evaluation revealed significant small-fibre dysfunction and a de novo SCN9A p.Ile234Thr variant. Treatment with carbamazepine resulted in over 90% pain improvement and notable functional recovery, highlighting the importance of genetic diagnosis in guiding management.
Diagnostic / clinical pearl
Clinicians should consider SCN9A gain-of-function variants in patients with unexplained severe neuropathic pain, as genetic diagnosis can inform effective treatment strategies.
Why it matters
This case underscores the relevance of comprehensive phenotyping in diagnosing complex pain disorders and the potential for targeted therapies based on genetic findings.