Congenital indifference to pain: an illustrated case report and literature review

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...

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Bibliographic Details
Published in:Journal of radiology case reports 2014-08, Vol.8 (8), p.16-23
Main Authors: Golshani, Ashkahn E, Kamdar, Ankur A, Spence, Susanna C, Beckmann, Nicholas M
Format: Article
Language:English
Subjects:
Ankle - diagnostic imaging
Ankle - pathology
Child
Diagnosis, Differential
Female
Femoral Fractures - pathology
Femoral Neoplasms - pathology
Fractures, Spontaneous - pathology
Humans
Magnetic Resonance Imaging
Musculoskeletal Radiology
Mutation
NAV1.7 Voltage-Gated Sodium Channel - genetics
Pain Insensitivity, Congenital - diagnosis
Prognosis
Radiography
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Description
Summary: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.
ISSN:1943-0922
1943-0922
DOI:10.3941/jrcr.v8i8.2194