Case Report
Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder
Table 3
SCN9A-associated features questionnaire. The responses of the patient described in this case report are shown.
| Have you ever had (including early childhood): | Yes/no | If yes, at what age did those features begin? | If yes, how often (sometimes, often, always) |
| Seizures | No | | | Rectal pain | Yes | 45-increased in severity | often | Constipation | Yes | 3 | always | Sensitivity to cold temperatures | Yes | 51 | always (likes ambient temperature of 27°C) | Redness and swelling of the hands or feet | Yes | 36 (during pregnancy) | | Pain during/following tear secretion | No (pain when eyes dry) | | | Pain during/following flushing | No | | | Pain during/following sinus congestion | Yes | 37 | sometimes | Pain during/following defecation | Yes | 45 | always | Pain during/following eating | No | | | Pain during/following strong emotions | Yes | 53 | often |
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