A case report and insightful review of congenital insensitivity to pain with anhidrosis

Amal Prazad; Aswathy Mathews

doi:10.18203/2320-6012.ijrms20252812

Authors

Amal Prazad Department of Emergency Medicine, Marietta Memorial Hospital Ohio, US
Aswathy Mathews Department of General Medicine, Government Sivagangai Medical College, Tamil Nadu, India

DOI:

https://doi.org/10.18203/2320-6012.ijrms20252812

Keywords:

NTRK1 gene mutation, CIPA, Congenital insensitivity to pain with anhidrosis, Comprehensive care, Anhidrosis, Hereditary sensory and autonomic neuropathy type IV, Insensitivity to pain, Self-inflicted injury, Temperature dysregulation

Abstract

We present a case of a 9-month-old male, born to a third-degree consanguineous marriage, presenting with a month-long history of mild to moderate fever occurring 3-4 times daily. The child remained active during afebrile periods and exhibited no associated symptoms. Physical examination revealed pallor and multiple abrasions on bilateral fingers, with stable vital signs. Extensive investigations for infectious and hematological conditions were negative. Notably, the child did not cry during IV insertion and the fever developed after sun exposure. A detailed CNS examination revealed an absence of sensation to crude touch, pain and temperature, leading to further tests which confirmed the diagnosis of congenital insensitivity to pain with anhidrosis (CIPA). This case underscores the importance of considering CIPA in children with unexplained fevers and insensitivity to pain, particularly in consanguineous families and highlights the need for regular follow-ups and supportive management.

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