Case Report
Clinical and Genetic Characterization of Two Siblings with SCN9A-Related Congenital Insensitivity to Pain Type 1: Two Case Reports
Issue:
Volume 7, Issue 3, September 2026
Pages:
34-39
Received:
19 February 2026
Accepted:
24 August 2026
Published:
15 September 2026
DOI:
10.11648/j.wjmcr.20260703.11
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Abstract: Congenital insensitivity to pain (CIP) is an extremely rare syndrome with various clinical features, characterized by a dramatic impairment of pain perception since birth. Although many genes are known to cause this condition, SCN9A-related disease remains underrecognized, and affected individuals cannot perceive pain despite preserved tactile sensation, predisposing them to repeated unnoticed injuries, fractures, burns, and joint deformities. Here, we report two siblings with genetically confirmed SCN9A-related type 1 CIP: the first is a female patient who experienced fractures with delayed detection, anosmia, recurrent hand and foot inflammation, and life-long absence of pain response, while the second is her brother, who demonstrated similar features along with progressive lower-limb deformity, limb-length discrepancy, and multiple soft-tissue injuries resulting from unrecognized trauma; both had unremarkable perinatal and developmental histories. These findings illustrate that CIP remains a rare and diagnostically challenging condition, highlighting clinical features that can guide early identification, including lack of pain perception, recurrent trauma, painless inflammatory episodes, and preserved non-nociceptive sensation; genetic testing plays a central role in confirming the diagnosis, and long-term management requires multidisciplinary care, regular radiological monitoring, and comprehensive family education to reduce preventable complications. Overall, this case series highlights a rare familial neurological condition in which early recognition and treatment can make a meaningful difference in preventing progressive deformity and disability, and increasing awareness of this uncommon condition may improve diagnostic timing and patient outcomes.
Abstract: Congenital insensitivity to pain (CIP) is an extremely rare syndrome with various clinical features, characterized by a dramatic impairment of pain perception since birth. Although many genes are known to cause this condition, SCN9A-related disease remains underrecognized, and affected individuals cannot perceive pain despite preserved tactile sens...
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,
Qossay Hasasneh
