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Case Reports in Neurological Medicine
Volume 2016 (2016), Article ID 9212369, 7 pages
Case Report

Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder

1The Department of Medical Genetics, Mayo Clinic, Jacksonville, FL 32224, USA
2Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL 32224, USA
3Department of Pain Medicine, Mayo Clinic, Jacksonville, FL 32224, USA

Received 22 March 2016; Revised 2 June 2016; Accepted 26 June 2016

Academic Editor: Chin-Chang Huang

Copyright © 2016 Ashley Cannon et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Objective. To describe the use of an advanced genetic testing technique, whole exome sequencing, to diagnose a patient and their family with a SCN9A channelopathy. Setting. Academic tertiary care center. Design. Case report. Case Report. A 61-year-old female with a history of acute facial pain, chronic pain, fibromyalgia, and constipation was found to have a gain of function SCN9A mutation by whole exome sequencing. This mutation resulted in an SCN9A channelopathy that is most consistent with a diagnosis of paroxysmal extreme pain disorder. In addition to the patient being diagnosed, four siblings have a clinical diagnosis of SCN9A channelopathy as they have consistent symptoms and a sister with a known mutation. For treatment, gabapentin was ineffective and carbamazepine was not tolerated. Nontraditional therapies improved symptoms and constipation resolved with pelvic floor retraining with biofeedback. Conclusion. Patients with a personal and family history of chronic pain may benefit from a referral to Medical Genetics. Pelvic floor retraining with biofeedback should be considered for patients with a SCN9A channelopathy and constipation.