Remarkably, patients suffering from congenital indifference to pain
syndrome, which derives from loss-of-function mutations of the gene encoding for Nav1.7, have a dramatically reduced ability to perceive painful stimuli, but are otherwise perfectly healthy.
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.sub.v]l.7.
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).
The patient was evaluated by a neuropsychiatrist, who made an additional diagnosis of attention deficit and hyperactivity disorder, which, associated with the disorder of congenital indifference to pain, increases the posibiliteis of suffering serious injuries, and therefore, an interdisciplinary management of her pathologies was initiated.
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.
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
In this group of diseases, Type I is the most common dominantly inherited disorder which primarily affects sensory neurons.
Still more unfortunate are people born with a rare disorder, so-called "congenital indifference to pain
," who never experience pain at all.
Congenital Indifference to Pain
(CIP) is a condition that continues to baffle doctors.