CONGENITAL INDIFFERENCE TO PAIN ASSOCIATED WITH A DEFECT IN CALCIUM METABOLISM

Two siblings showed a syndrome consisting of congenital indifference to pain, self‐mutilation, EEG disturbances, skeletal anomalies and disturbances of calcium metabolism. An explanation is offered for the self‐mutilating behaviour, which seems to be a phenomenon bound to the oral phase. Biochemical and biopsy studies revealed a low intestinal calcium absorption capacity, together with an excess of osteoid tissue in the bones. Further investigations in other cases of congenital indifference to pain will show whether similar abnormalities exist and whether a large oral dose of calcium has therapeutic and/or prophylactic value on the skeletal lesions. If so, early detection of this condition is very important. Self‐mutilation in infancy is a helpful clue. The classical view which ascribes the skeletal lesions exclusively to repeated traumas and pain indifference must be challenged. A metabolic factor seems to play a role, also.