1/8. Pseudo-(tumor-induced) rickets.An athletic 8-year-old boy developed severe muscle weakness over 2 years. At the age of 10 years, investigation for possible neuromuscular disease disclosed hypophosphatemia (1.8 mg/dl) and rickets. There was selective renal tubular wasting of inorganic phosphate (Pi) but no history of toxin exposure, familial bone or kidney disease, or biochemical evidence of vitamin d deficiency. urine amino acid quantitation was unremarkable. serum 1,25-dihydroxyvitamin D [1,25(OH)2D] concentration was in the lower half of the reference range. Our presumptive diagnosis was tumor-induced rickets; however, physical examination and bone scanning in search of a neoplasm were unrevealing. Soon after 1,25(OH)2D3 and Pi treatment began, muscle strength improved considerably. After 6 months of therapy, radiographic abnormalities were substantially better. During the next 6 years, physical examinations, a second bone scan, whole-body and nasal sinus magnetic resonance imaging, and octreotide scintigraphy were unremarkable. When his physes fused at the age of 16 years, assessment of his course showed excellent control of his rickets requiring decreasing doses of medication. Furthermore, fasting serum Pi levels and tubular maximum phosphorus/glomerular filtration (TmP/ GFR) values had increased steadily and normalized after 3 years of treatment. Accordingly, therapy was stopped. Seven months after stopping medication, he continues to feel completely well. fasting serum Pi levels, TmP/GFR, other biochemical parameters of bone and mineral homeostasis, creatinine clearance, and renal sonography are normal. Neither spontaneous or pharmacologic cure of tumor-induced rickets or osteomalacia nor a patient matching ours has been reported. His disorder, which we call pseudo-(tumor-induced) rickets, should be considered when investigation for oncogenic rickets or osteomalacia discloses no causal lesion. Consequently, prolonged medical therapy and futile searches for a neoplasm may be avoided.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/8. First place winner. Recurrent febrile seizures: an unusual presentation of nutritional rickets.Nutritional rickets is a serious disease that is infrequently encountered in the united states today because of the fortification of infant formulas and dairy products with vitamin D. We report a case of undiagnosed nutritional rickets presenting with recurrent febrile seizures. Febrile seizures, a common and usually benign presenting complaint, are not among the symptoms generally known to be associated with rickets. Therefore, the disease was uncovered only after a careful history and physical examination prompted a more thorough investigation into an underlying cause for recurrent seizures. The diagnosis was subsequently confirmed by quantitative laboratory testing. We review the historical and cultural factors, symptoms, and physical findings suggestive of this potentially serious yet easily treatable disease.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/8. Nutritional rickets: beyond the chief complaint.In the emergency department, opportunities exist for the emergency physician to make a diagnosis beyond the chief complaint. For example, an astute reader of pediatric radiographs may detect signs of rickets on plain films that are obtained for other reasons. risk factors that should suggest nutritional rickets in an infant include a history of exclusive breast-feeding, time of presentation in late winter or early spring, and a physical examination that reveals pigmented skin.- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
4/8. Rickets: not a disease of the past.Rickets develops when growing bones fail to mineralize. In most cases, the diagnosis is established with a thorough history and physical examination and confirmed by laboratory evaluation. Nutritional rickets can be caused by inadequate intake of nutrients (vitamin D in particular); however, it is not uncommon in dark-skinned children who have limited sun exposure and in infants who are breastfed exclusively. Vitamin D-dependent rickets, type I results from abnormalities in the gene coding for 25(OH)D3-1-alpha-hydroxylase, and type II results from defective vitamin D receptors. The vitamin D-resistant types are familial hypophosphatemic rickets and hereditary hypophosphatemic rickets with hypercalciuria. Other causes of rickets include renal disease, medications, and malabsorption syndromes. Nutritional rickets is treated by replacing the deficient nutrient. mothers who breastfeed exclusively need to be informed of the recommendation to give their infants vitamin D supplements beginning in the first two months of life to prevent nutritional rickets. Vitamin D-dependent rickets, type I is treated with vitamin D; management of type II is more challenging. familial hypophosphatemic rickets is treated with phosphorus and vitamin D, whereas hereditary hypophosphatemic rickets with hypercalciuria is treated with phosphorus alone. Families with inherited rickets may seek genetic counseling. The aim of early diagnosis and treatment is to resolve biochemical derangements and prevent complications such as severe deformities that may require surgical intervention.- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
5/8. Risk of nutritional rickets among vegetarian children.Records of the dietary intake of 52 preschool vegetarian children seen from 1974 to 1976 revealed that macrobiotic vegetarian diets provided amounts of vitamin D, calcium, and phosphorus that were marginal as well as less than the amounts provided by other vegetarian diets. Vitamin D supplements were rarely given. Two subjects had roentgenographic evidence of rickets. The medical histories of 32 children on macrobiotic diets who were examined in 1977 more frequently included prior physical and roentgenographic findings indicative of rickets, whereas those of 17 other vegetarian children did not. Children in the former group were more likely to have elevated levels of serum alkaline phosphatase. Two additional cases of rickets in children consuming a macrobiotic diet confirmed by roentgenograms were brought to our attention during the study.- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
6/8. Symptomatic vitamin a and D deficiencies in an eight-year-old with autism.An 8-year-old boy with autism developed a limp and periorbital swelling. He was found to have hypocalcemia and radiographic evidence of rickets. Ophthalmologic examination revealed xerophthalmia and corneal erosions. serum vitamin a was undetectable and serum 25-hydroxyvitamin D was decreased. Dietary history revealed a markedly altered intake consisting of only french fried potatoes and water for several years. All biochemical and physical abnormalities reversed with appropriate supplementation. The nutritional content of french fries is reviewed. Feeding dysfunction is an integral part of autism and closer attention should be paid to potential nutritional deficiencies.- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
7/8. Unusual cases of hyperparathyroidism.The history, physical and radiologic findings, treatment and pathology in five unusual cases of hyperparathyroidism is presented. The hyperparathyroidism was caused by a large (113 grams) mediastinal adenoma in the first patient, who is alive 25 years after surgery. A parathyroid carcinoma with compression of the esophagus was documented in the second patient. This patient is alive and normocalcemic 23 years after surgical treatment. A third patient with hyperplasia returned with hypercalcemia 20 years postsurgery requiring reoperation. A fourth patient with advanced bone findings was found to have a parathyroid adenoma. The fifth case is a patient with tertiary hyperparathyroidism secondary to hypophosphatemic rickets.- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
8/8. Early detection of infants with hypophosphatemic vitamin D resistant rickets (HDRR).The onset of physical signs in infants with hypophosphatemic vitamin D resistant rickets (HDRR) has generally been considered to be at the age of 12 months, but the time of appearance of hypophosphatemia and rachitic signs on radiographs remains unclear. We report a prospective study in three neonates whose mothers were HDRR. At birth, despite a low maternal serum inorganic phosphorus (Pi) level, the serum Pi level was normal together with a negligible renal Pi leak in one neonate. At age 3 months, their serum Pi levels, percentages of tubular reabsorption of Pi, and renal tubular maximal rates of Pi reabsorption in relation to the glomerular filtration rate were low except for one infant. Radiographically, their rickets were not apparent at birth but at age 3 months in all. A premature born infant, born at 28 weeks' gestation weighing 1240 g, was diagnosed as HDRR based on hypophosphatemia due to low renal tubular maximal rate of phosphorus reabsorption in relation to the glomerular filtration rate (TmP/GFR) and normal urine Ca excretion at age 5 months. They were initially treated with 1 alpha-hydroxyvitamin D3 (1 alpha OHD3) and later with 1 alpha OHD3 in combination with Pi, which results in healing of the rickets and a normal increase in height. Thus, early detection and treatment of patients born from mothers with HDRR before physical signs of bow-leg and short stature is possible, but the outcome of early treatment requires further study.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |