A 37 year-old female patient with polyostotic fibrous dysplasia (PFD) is described. She presented the typical "cafe au lait" spots and severe bone involvement including a maxillary osteosarcoma. The father, four sibs, two nephews, two paternal aunts and two paternal first cousins were clinically examined, and seven of them also radiologically evaluated. "Cafe au lait" spots were found in the father, three sibs, one nephew, one aunt and one first cousin. Although no definite PFD bone lesions, mild radiological abnormalities were found in the father, three sibs and one nephew. These findings were interpreted as the variable expression of a pleiotropic gene. The present observation and three previous familial cases of this entity strongly suggest the existence of a form of PFD determined by an autosomal dominant gene.
The exact mechanism by which the "sprue syndrome" develops is still unknown, but the syndrome, as seen in some patients with this condition, embraces many features that are suggestive of adrenal hypofunction, such as asthenia, loss of weight, gastrointestinal symptoms, hypotension, a flat oral glucose tolerance test, and hyperpigmentation of the skin. It has been observed that in sprue certain gastrointestinal symptoms, like flatulence, abdominal distention, and soft or diarrheic stools, frequently precede the development of anemia. This suggests that the initial abnormality may be related to the impaired absorption of essential foodstuffs from the gastrointestinal tract.Thorn and Clinton 1 found some abnormalities in carbohydrate metabolism in 75% of 52 untreated patients with Addison's disease. These consisted of a tendency to a low fasting blood sugar level, a flat oral glucose tolerance curve, a normal level in the intravenous glucose tolerance curve, and a tendency to hypoglycemia.The authors conclude that in Addison's disease there is an impaired absorption of glucose from the intestine.Hanes found a flat oral glucose tolerance curve (maxi¬ mal rise of 39 mg. per 100 cc. of blood) in 54 patients with sprue, while the curve was normal when the glucose was given intravenously. This proves that in sprue there is an impaired absorption of glucose from the intestine. In 1934 Thaysen 3 pointed out that this abnormality of carbohydrate metabolism in sprue is "probably due to adrenal insufficiency." This is the first reference to such a possibility that we have been able to find.According to Best and Taylor * some of the abnormal¬ ities of carbohydrate metabolism observed in cats and rats subjected to adrenalectomy appear to be due to a disturbance in the metabolism of sodium and potassium, which is also regulated by the adrenal cortex. Thus, the delayed absorption of sugar and fat, as well as the failure to store glycogen from glucose in these animals, can be favorably regulated by appropriate salt intake. There would seem to be, from the physiological point of view, a definite similarity between some of the symptoms of sprue and an insufficiency of the adrenal cortex.Even though the administration of folie acid, liver ex¬ tract, or vitamin Bl2 favorably affects many cases of sprue, the oral glucose tolerance curve frequently remains low or flat. Furthermore, some of the treated patients with sprue continue to have gastrointestinal symptoms even though the anemia and glossitis have been controlled and the patient has gained weight. We have seen several cases of sprue in this hospital in which pigmentation of the face and extremities appeared with the onset of the disease.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.