Congenital Indifference to Pain: An Illustrated Case Report and Literature Review

Congenital Indifference to Pain: An Illustrated Case Report and Literature Review

Ashkahn Golshani, Ankur Kamdar, Susanna Spence, Nicholas Beckmann

Abstract


Congenital indifference to pain is a rare and debilitating congenital disease.  Individuals with the disorder may have one or a combination of sensory or autonomic deficits, which can range from lack of mechanical nociception, diminished ability to detect heat and cool stimulation, to the devastating and fatal form which includes autonomic dysfunction.  It is important for radiologists to be able to recognize the radiographic presentations of this rare disorder, as delay in diagnosis can lead to extensive and sometimes unnecessary workup.  We present a case of congenital indifference to pain initially interpreted as a mass of the distal femur.

Keywords


Congenital indifference to pain; congenital insensitivity to pain; congenital insensitivity to pain with anhydrosis; congenital pure analgesia; MRI; bone scan; neuropathic arthropathy; inflammatory arthropathy



DOI: https://doi.org/10.3941/jrcr.v8i8.2194