Extreme Ends of Pain Sensitivity in SCN9A Mutation Variants: Case Report and Literature Review

Innovations in Clinical Neuroscience

Ike Eriator¹  Muhammad Hassan Majeed²  Anesh Rugnath³  Muhammad Ubaidulhaq⁴ 

[1] Dr. Eriator is Chairman with the Department of Anesthesiology Pain Medicine at University of Mississippi Medical Center in Jackson, Mississippi.;Dr. Majeed is Attending Psychiatrist with the Department of Psychiatry at Natchaug Hospital in Norwich, Connecticut.;Dr. Rugnath is Attending Physician with the Department of Anesthesiology Pain Medicine at University of Mississippi Medical Center in Jackson, Mississippi.;Dr. Ubaidulhaq is Pain Medicine Fellow with the Department of Anesthesiology at University of Mississippi Medical Center in Jackson, Mississippi.

关键词: Congenital insensitivity to pain;    CIP;    SCN9A mutation;    hereditary sensory and autonomic neuropathy Type IID;    HSAN IID;   

DOI  :  

学科分类：精神健康和精神病学

来源: Matrix Medical Communications, LLC

【 摘 要 】

Pain insensitivity disorders are rare; however, when individuals are insensitive to pain, they are significantly more vulnerable to physical injuries, with higher morbidity and mortality rates, compared with the general population. The authors present the case of an 11-month-old male infant with SCN 9A gene mutation that resulted in congenital insensitivity to pain, while his mother, with a different mutation of the same gene, had hypersensitivity to pain. This is a rare familial presentation of the extreme ends of pain sensitivity, and might be the first such example in medical literature. There is little available information regarding the treatment of pain insensitivity disorders. The authors provide a brief discussion regarding diagnosis (including differentials), known etiology, and treatment of congenital insensitivity to pain, of which a multidisciplinary treatment approach is recommended.

【 授权许可】

Unknown