title: Congenital indifference to pain: an illustrated case report and literature review.
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.
authors.affiliation: Department of Diagnostic and Interventional Imaging, University of Texas Health Science Center, Houston, USA.
authors.forename: Ashkahn E
authors.initials: AE
authors.lastname: Golshani
authors.affiliation: Department of Rheumatology, University of Texas Health Science Center, Houston, USA.
authors.forename: Ankur A
authors.initials: AA
authors.lastname: Kamdar
authors.affiliation: Department of Diagnostic and Interventional Imaging, University of Texas Health Science Center, Houston, USA.
authors.forename: Susanna C
authors.initials: SC
authors.lastname: Spence
authors.affiliation: Department of Diagnostic and Interventional Imaging, University of Texas Health Science Center, Houston, USA.
authors.forename: Nicholas M
authors.initials: NM
authors.lastname: Beckmann
mesh_terms: D000842:Ankle / Q000000981:diagnostic imaging / Q000473:pathology; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D005264:Femoral Fractures / Q000473:pathology; D005266:Femoral Neoplasms / Q000473:pathology; D005598:Fractures, Spontaneous / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D009154:Mutation; D062556:NAV1.7 Voltage-Gated Sodium Channel / Q000235:genetics; D000699:Pain Insensitivity, Congenital / Q000175:diagnosis*; D011379:Prognosis; D011859:Radiography
chemical_list: D062556:NAV1.7 Voltage-Gated Sodium Channel; C486866:SCN9A protein, human
keywords: Congenital indifference to pain; MRI; bone scan; congenital insensitivity to pain; congenital insensitivity to pain with anhydrosis; congenital pure analgesia; inflammatory arthropathy; neuropathic arthropathy