Case Report on Paroxysmal Extreme Pain Disorder
Author Information
Author(s): Szczupak Mateusz, Wierzchowska Jolanta, Cimoszko-Zauliczna Maria, Kobak Jacek, Kosydar-Bochenek Justyna, Radys Wojciech, Szlagatys-Sidorkiewicz Agnieszka, Religa Dorota, Krupa-Nurcek Sabina
Primary Institution: Medical University of Gdańsk
Hypothesis
The study aims to present a case of a 9-year-old boy with paroxysmal extreme pain syndrome and explore the genetic mutation involved.
Conclusion
A mutation in the SCN9A gene causes paroxysmal extreme pain syndrome, and effective treatment methods are still needed.
Supporting Evidence
- A mutation in the SCN9A gene was confirmed through genetic testing.
- The boy experienced episodes of extreme pain and autonomic symptoms.
- Previous literature reports indicate that PEPD affects around 500 individuals worldwide.
- Treatment options explored include carbamazepine and non-steroidal anti-inflammatory drugs.
Takeaway
This study talks about a boy who feels really bad pain because of a gene problem, and doctors are trying to find better ways to help him.
Methodology
The study includes a case presentation and a review of literature on paroxysmal extreme pain syndrome.
Limitations
The study is based on a single case, limiting the generalizability of the findings.
Participant Demographics
The participant is a 9-year-old boy with a family history of paroxysmal extreme pain syndrome.
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website