Report of a case of gargoylism

Conclusion

The first impression that one got by looking at this child was that he was a cretin. The dwarfism, the facial expression and the mental backwardness all supported this view. But on a closer examination it was apparent that the resemblance was only superficial in as much as some of the features of cretinism were absent, namely, the skin was not dry, the temperature was not subnormal and above all the response to thyroid therapy was disappointing. Thyroid extract given orally had no effect even after administering it for two weeks. The serum cholesterol was also found to be only 94 mgm. per cent—a point against the diagnosis of cretinism.

Congenital syphilis was ruled out by the history, the absence of stigmata of the disease and by a negative W.R. Skiagrams of the long bones and pelvis did not show any changes resembling achondroplasia.

Similarly, renal dwarfism could be excluded by the negative findings on routine urine examination and by the absence of rickets radiographically.

The child showed the features of gargoylism clinically and radiographically but until more is known about the etiology of the condition nothing palpable can be done to influence the prognosis.