Congenital insensitivity to pain: a neurologic syndrome with bizarre skeletal lesions

FN Silverman, JJ Gilden - Radiology, 1959 - pubs.rsna.org
FN Silverman, JJ Gilden
Radiology, 1959pubs.rsna.org
The reactions of bone to trauma are well known; even when the traumatic episodes have
been unrecognized, forgotten or denied, the evidence provided by roentgenographic
examination of the skeleton frequently permits unequivocal diagnosis and subsequently
elicits the confirmatory history (4, 26, 28). Thus, custodians of children may be made
objectively aware of the fact that certain activities can be traumatic for their charges. In rare
instances, failure to recognize a traumatic basis for bizarre roentgenographic appearances …
The reactions of bone to trauma are well known; even when the traumatic episodes have been unrecognized, forgotten or denied, the evidence provided by roentgenographic examination of the skeleton frequently permits unequivocal diagnosis and subsequently elicits the confirmatory history (4, 26, 28). Thus, custodians of children may be made objectively aware of the fact that certain activities can be traumatic for their charges. In rare instances, failure to recognize a traumatic basis for bizarre roentgenographic appearances of bones results from subjective rather than objective deficiencies; the patient and not his custodian is, in effect, unaware of the trauma.
Unawareness of trauma associated with a congenital indifference or insensitivity to pain was responsible for the unusual skeletal lesions observed in the two sisters reported below. No satisfactory explanation for the clinical and radiographic findings was available until we learned of the syndrome through Murray's report (21) eight years after our initial contact with the patients. About the same time, the comprehensive review of Fanconi and Ferrazzini (10) made its appearance and was followed shortly by the report of Lamy et al. (18). The increasing number of prior reports unearthed successively by the several authors supports the belief that congenital insensitivity to pain is a distinct syndrome of variable severity and that our two patients, whose disability had been undiagnosed previously, properly belong in this nosologic category. The similarity of the clinical manifestations in all reported instances is remarkable even with the diverse expressivity of the disease; the roentgenographic appearance in such instances where illustrations of skeletal lesions are available are more variable, but are adequate to stimulate appropriate clinical inquires and examinations. The roentgenographic similarities between Murray's illustrations and the films of our cases led to the specific questioning and examinations which established the diagnosis.
Case reports
The two patients were seen together initially, but the reports will be presented in part separately. The older sister (Case I), now twenty-one years old, has refused to be interviewed and the data which refer to her are taken from the hospital chart or from information provided by other members of the family.
Case I: S. E., a white female, was twelve years of age when first seen in the Children's Hospital Out-patient Department because of skeletal deformities. She was born at term after an uncomplicated seventh pregnancy of a thirty-year-old mother. Her father was thirty-five years old at the time of her birth. Delivery was normal. Development proceeded normally and the child had the usual childhood diseases without complications. At the age of two years, there occurred a convulsion in association with high fever. The routine immunizations had been given at the usual times.
Radiological Society of North America