Bilateral congenital corneal anesthesia in a patient with SCN9A mutation, confirmed primary erythromelalgia, and paroxysmal extreme pain disorder.

Abstract

The SCN9A gene codes for the sodium voltage-gated channel NaV 1.7. Gain of function mutations cause pain disorders such as primary erythromelalgia, paroxysmal extreme pain disorder, and small fiber neuropathy. Loss of function mutations lead to congenital insensitivity to pain. We report the case of a 6-year-old girl with a SCN9A mutation who presented with both gain of function and loss of function phenotypes, including congenital corneal anesthesia.

• Authors: David Ta Kim, Elsa Rossignol, Kinda Najem, Luis H Ospina
• Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus (J AAPOS) Vol. 19 Issue 5 Pg. 478-9 (Oct 2015) ISSN: 1528-3933 [Electronic] United States
• PMID: 26486037 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2015 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

Chemical References

• Lubricant Eye Drops
• NAV1.7 Voltage-Gated Sodium Channel
• Ointments

Topics

• Child
• Erythromelalgia (diagnosis, genetics)
• Exons (genetics)
• Eye Protective Devices
• Female
• Humans
• Hypesthesia (diagnosis, genetics, therapy)
• Keratitis (congenital, diagnosis, genetics, therapy)
• Lubricant Eye Drops (administration & dosage)
• Mutation, Missense
• NAV1.7 Voltage-Gated Sodium Channel (genetics)
• Ointments
• Pain (diagnosis, genetics)
• Phenotype
• Rectum (abnormalities)