Familial indifference to pain with somatosensory
asymmetry: possible central anomaly
Bowsher D, Lahuerta J, Peach B, Venn D,
Haywar M, Campbell J, Mumford J, Haggett C.
Pain Research Institute,
University Hospital Aintree,
Liverpool L7 AL, U.K.
Rev Neurol (Paris). 2002 Feb;158(2):195-2
ABSTRACTA 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.SCN9A
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