Remarkably, patients suffering from congenital indifference to pain
syndrome, which derives from loss-of-function mutations of the gene encoding for Nav1.
Congenital indifference to pain is a rare syndrome, which characteristically features failure to exhibit aversion to or withdrawal from painful stimuli, despite not having neurological abnormalities in pain pathways (1).
The patient was given an electrophysiological impression of a normal study, and a clinical correlation for a diagnosis of congenital indifference to pain was suggested.
The terms congenital indifference to pain and congenital insensitivity to pain (CIP) were used interchangeably until 1970, when they were distinguished and described as two distinct syndromes (1).
The cases of congenital indifference to pain become evident at early childhood with frequent fractures, ulcers, and burns.
Small fiber neuropathy and congenital indifference to pain
(the official name for the Pakistanis' pain-free condition) are just two of a handful of human pain disorders that have in the last decade been linked to malfunctioning [Na.
Congenital indifference to pain is an infrequent condition in which, despite not having neurological abnormalities in the pain pathways, the individual lacks of emotional response in cases of tissue injury (3).
After the analysis of these paraclinical tests and the clinical condition of the patient, it was possible to establish the diagnosis of congenital indifference to pain.
Within the congenital--described by Dearborn in 1932 (4)--there are two subgroups: the first includes patients with congenital indifference to pain, in whom the sensory pathway is intact, but the interpretation or perception as a painful sensation is absent.
The main differential diagnosis of congenital indifference to pain should be made with congenital insensitivity to pain, specifically with HSAN V.
Types of disease Main features of disease Type I Sensory radicular neuropathy Type II Congenital sensory neuropathy Type III Familial dysautonomia Type IV Congenital insensitivity to pain with anhidrosis Type V Congenital indifference to pain
Congenital Indifference to Pain
(CIP) is a condition that continues to baffle doctors.