Hayles, Alvin B.

A case of idiopathic osteoporosis in a 12-year-old girl has been reported. Quantitative microradiographic studies of a biopsy specimen of iliac crest showed normal bone formation and an almost threefold increase in the level of bone resorption. The patient was observed without treatment, and a spontaneous clinical remission with roentgenographic improvement occurred. A second iliac crest biopsy specimen, obtained 15 months after the initial biopsy at a time when roentgenographic improvement was apparent, showed a return toward normal of the level of bone resorption. Metabolic balance studies conducted at this time showed that the patient was approximately in calcium balance. Because the majority of the previously reported cases have also exhibited spontaneous improvement, it is suggested that initially observation alone is indicated.

Observations on two mongoloid children, one having primary hypothyroidism and the other having primary hyperthyroidism, have been reported. Primary hypothyroidism in the mongoloid child, in each of the three cases reported to date, has been associated with uterine bleeding attributed to hormonal overlap in the pituitary feedback mechanism. The significance of this phenomenon is not clean. A total of sixteen cases of mongolism with hyperthyroidism have been described. There is no evidence that altered thyroid function plays a role in the clinical manifestations of mongolism, and significant alteration in thyroid function is uncommon among such patients. Both of the carrier protein systems responded to the stresses of the superimposed disease processes in these mongoloid children as they do in normal children. Specifically, the values for the erythrocytic uptake of 1-I131-triiodothyronine and thyroxine and the triiodothynonine binding capacities (Case 2 only) were all in the expected ranges for both thyroid derangements involved. Similarly, in Case 2, where an iron-deficiency anemia was also present, the increase in the iron binding capacity and presumably in the level of transferrin was on the order of that to be expected for the degree of iron deficiency. The response to stress of both carrier protein systems in Down's Syndrome suggests that protein synthesis of transferrin and TBG is normal.

In 12 children with hyperadrenocorticism caused by tumor of the adrenal cortex the most common clinical picture was that of a mixture of adrenogenital and Cushing's syndromes. All tumors were surgically removed; adrenal steroids were used in the preparation of 11 patients for operation. One patient died with extensive metastasis 5 months after operation, while 11 were alive and well 18 months to 29 years after operation. Data from the 12 cases in this series and from those in the literature suggest that the likelihood of metastasis may be correlated with the relation of tumor weight to body weight.

Normal values for the measurement of thyroidal function using the erythrocytic uptake of I131-labeled triiodothyronine and the thyroxine-binding capacity of the inter-alpha globulin were established. Paired maternal and cord blood samples collected at the time of delivery were studied with these methods. The erythrocytic uptake of labeled hormone was increased in cord blood as compared to maternal blood. Cord blood apparently binds exogenous triiodothyronine in a different manner than it does exogenous thyroxine. Whether this is a qualitative or quantitative difference was not shown in this study.

Observations on two girls in whom an unusual type of chronic renal insufficiency developed many months after the onset of nephrotic syndrome are reported. Each patient became free of edema in spite of persistent massive proteinuria. Growth was retarded and rickets and attacks of tetany developed. The chemical disturbances of the blood were characterized by hypocalcemia, hypokalemia, azotemia and metabolic acidosis. Hyposthenuria, proteinuria, amino-aciduria, and minimal erythrocyturia, cylindruria and glycosuria were present. Healing of the rickets and cessation of attacks of tetany followed the administration of vitamin D and calcium salts. Prednisone was administered to one patient and thereafter proteinuria decreased and renal tubular function improved. Both girls are relatively asymptomatic 11 and 9 years after the onset of nephrotic syndrome, although they are rather small and still have evidence of renal disease. It is possible that cells of the renal tubules have been damaged as a result of prolonged massive proteinuria.

Forty cases of disease of the central nervous system, characterized by several episodes and disseminated lesions, with onset in childhood and clinically typical of multiple sclerosis, were studied. The disease as it occurs in children does not appear to differ clinically from the disease as observed in adults, in respect to mode of onset, symptoms, physical findings, and changes in the spinal fluid. In the Mayo Clinic series, however, almost twice as many girls as boys were affected. A pediatrician confronted with a child showing evidence of scattered neurologic deficits that remit, particularly a disturbance of vision and co-ordination, should consider the possibility of multiple sclerosis.

A 10-month-old boy with circumscribed lobular lipoblastomatosis of the trunk was examined and treated at the Mayo Clinic. This is only the third case of lipoblastomatosis at our institution. The diagnosis depends on the pathologist, and the lesion must be differentiated from low-grade liposarcoma. Effective treatment involves adequate local excision and local reexcision for recurrence.

Type A insulin resistance, associated with acanthosis nigricans and menstrual irregularity, has been ascribed to a decreased concentration of insulin receptors. We now report four affected females from one family, a mother and three daughters (including identical twins) who appear to have the type A syndrome. Two of the kindred had no apparent ovarian dysfunction, while the other two had hyperprolactinemia without other findings of polycystic ovary disease, suggesting a genetic disease with variable penetrance. All had normal erythrocyte and monocyte insulin binding. Insulin dose-response studies to assess glucose metabolism and insulinsensitivity were performed in the affected twins. The dose response to insulin was shifted to the right with a decrease in maximal response. These results are consistent with a postbinding defect in insulin action in these patients.