[Familial indifference to pain with somatosensory asymmetry: possible central anomaly]. / Forme familiale d'insensibilité à la douleur avec asymétrie de la somesthésie: anomalie centrale?

A family of seven siblings is described. The mother and six siblings have been examined, the eldest and youngest of whom suffer from congenital indifference to pain , although both were ticklish, and itched. The functions examined included somatosensory perception thresholds and autonomic functions; perception thresholds were greatly raised in the painfree subjects and to a lesser extent in some other family members, asymmetrically in all cases, being higher in the dominant hand. Painfree Subject 1 also underwent cerebrospinal fluid analysis at age 16, which showed normal B-endorphin levels but undetectable enkephalins. Electrophysiological tests when a child demonstrated notably that most (raised) measured values were lowered by naloxone. Light microscopic sural nerve biopsy performed on painfree Subject 1 in childhood did not suggest any abnormalities other than a thickened nerve sheath. Threshold asymmetry has not been observed in large numbers of subjects without neurological deficits. There were no significant autonomic changes in any tested family member, though there was some asymmetry. It is suggested that the findings may imply a congenital anomaly of the central nervous system which accounts for the somatosensory, biochemical, and electrophysiological abnormalities.

[Cerebrospinal fluid beta-endorphin in congenital insensitivity to pain]. / Béta-endorphine du liquide céphalo-rachidien au cours de l'insensibilité congénitale à la douleur.

Spontaneously elevated nociceptive threshold levels were markedly diminished after Naloxone injections in 4 patients with congenital insensitivity to pain. This finding suggested the hypothesis of a relation between congenital insensitivity to pain and permanent hyperfunction of an endomorphinic system. Radio-immunoassay of CSF beta-endorphin was performed in all 4 cases. The normal or only slightly elevated levels cannot explain electrophysiologic findings, but as a function of the multiplicity of endogenous opioid systems, hyperactivity of another endomorphinic system cannot be excluded. Other hypotheses may also be proposed.

Intracerebroventricular injection of cerebrospinal fluid (CSF) from a patient with congenital indifference to pain induces analgesia in rats.

CSF from a patient with congenital indifference to pain was found to produce analgesia in the rat following intracerebroventricular injections. The analgesic effect was attenuated by pretreatment with naloxone suggesting the involvement of hyperactive endogenous opiate mechanisms in this patient.