1/79. Intracortical osteoblastic osteosarcoma with oncogenic rickets.Intracortical osteosarcoma is the rarest variant of osteosarcoma, occurring within, and usually confined to, the cortical bone. Oncogenic osteomalacia, or rickets, is an unusual clinicopathologic entity in which vitamin D-resistant osteomalacia, or rickets, occurs in association with some tumors of soft tissue or bone. We present a case of oncogenic rickets associated with intracortical osteosarcoma of the tibia in a 9-year-old boy, whose roentgenographic abnormalities of rickets disappeared and pertinent laboratory data except for serum alkaline phosphatase became normal after surgical resection of the tumor. Histologically, the tumor was an osteosarcoma with a prominent osteoblastic pattern. An unusual microscopic feature was the presence of matrix mineralization showing rounded calcified structures (calcified spherules). Benign osteoblastic tumors, such as osteoid osteoma and osteoblastoma, must be considered in the differential diagnosis because of the relatively low cellular atypia and mitotic activity of this tumor. The infiltrating pattern with destruction or engulfment of normal bone is a major clue to the correct diagnosis of intracortical osteosarcoma. The co-existing radiographic changes of rickets were due to the intracortical osteosarcoma.- - - - - - - - - - ranking = 1keywords = bone (Clic here for more details about this article) |
2/79. Primary proximal renal tubular acidosis; A therapeutical approach and long term follow-up.This paper reports a case of proximal renal tubular acidosis followed during 4 years, in a 4-year-old girl. High doses of alkali could not be administered owing to gastric intolerance of the patient; diuretic therapy carries the risk of causing severe dehydration or hypotension. We administered such a dose of NaHCO3 to obtain a normal blood pH--with persistent hyperventilation-, subnormal bicarbonatemia, and acid urine. This treatment could cause an improvement of rickets, growth and laboratory data. At present, the biochemical data, including urinary excretion of bicarbonate with normal bicarbonatemia, are normal; this indicates a spontaneous recovery of the syndrome. We think that low doses of alkali are useful in the transient form of proximal renal tubular acidosis to prevent bone lesions and failure to thrive. But even in the irreversible form of this syndrome--when high alkali doses and diuretics cause dangerous effects--this therapy may be useful to treat some symptoms.- - - - - - - - - - ranking = 0.33333333333333keywords = bone (Clic here for more details about this article) |
3/79. Hypocalcemic tetany in a toddler with undiagnosed rickets.A 17-month-old black girl presented to the pediatric emergency department with sudden onset of her hands and feet "drawing up." A diagnosis of vitamin d deficiency rickets with tetany was made on a history of exclusive breast-feeding, low serum calcium, phosphorus, and 25-hydroxyvitamin D levels, and bone radiographs. Nutritional rickets should be considered in the differential diagnosis of acute hypocalcemia.- - - - - - - - - - ranking = 0.33333333333333keywords = bone (Clic here for more details about this article) |
4/79. Ebb and flow rickets in a premature infant: the Afghan turban sign.The pattern of alternating dense and lucent bands, with straight outer edges, at the youngest metaphysis of long bones, the "Afghan turban" sign, occurs when incompletely treated rickets has recurred and been retreated. Recognition of this, and other, rickets patterns allows the radiologist to influence treatment, as described in a very low birth weight infant.- - - - - - - - - - ranking = 0.33333333333333keywords = bone (Clic here for more details about this article) |
5/79. Metabolic studies in congenital vitamin d deficiency rickets.Congenital rickets in 3 newborns of mothers with advanced nutritional osteomalacia, healed with maternal breast milk feeding when mothers alone were given calcium supplements and 7.5 mg of intravenous D2 and the mother baby pair protected from sunlight. Maternal plasma biochemistry indicated more severe vitamin d deficiency compared to their newborns (intrauterine foetal priority). The first dose of 7.5 mg of vitamin D3 and calcium supplements to mother healed osteomalacia but did not appear to heal the rickets of their breast fed infants (extrauterine maternal priority for vitamin D). A second dose given at 3 months interval healed the rickets in their infants and the biochemistry of the mother and baby returned towards normal. Congenital rickets developed when maternal bone mineral and vitamin D stores had been completely exhausted. Raised IPTH levels in the newborn suggested that foetal parathyroids were responsive to hypocalcaemic stimulus.- - - - - - - - - - ranking = 0.33333333333333keywords = bone (Clic here for more details about this article) |
6/79. vitamin d deficiency rickets due to inappropriate feeding: report of one case.vitamin d deficiency rickets is rare among infants and children in the industrialized countries. In this paper, we report a 2-year-5-month-old girl with aching and bowed legs. A food allergy with atopic dermatitis was diagnosed since her early infancy. Strict dietary restrictions were done and she was mostly fed soybean juice and rice foods. Fortified soybean formula (Isomil) was introduced one month before admission. vitamin d deficiency rickets was diagnosed by a history of inappropriate feeding, roentgenographic and laboratory findings. The therapeutic regimen included 1, 25-dihydroxycholecalciferol 0.5 ug/day and calcium carbonate 100 mg/kg/day. Extensive nutritional counseling was also given for correction of aberrant dietary practices. After a one-year follow-up, there was radiological evidence of bone healing, and marked improvement of leg deformities.- - - - - - - - - - ranking = 0.33333333333333keywords = bone (Clic here for more details about this article) |
7/79. Vitamin D-deficiency rickets in adopted children from the former Soviet Union: an uncommon problem with unusual clinical and biochemical features.rickets is an unusual disorder in international adoptees. Three international adoptees from the former Soviet Union recently presented with rickets. Their clinical and laboratory presentations were atypical, reflecting circumstances unique to children adopted from orphanages in the former Soviet Union and the early initiation of vitamin D therapy. In these children, radiographs of the long bones were diagnostic when the classically diagnostic biochemical parameters, calcium and 25OHD(3) levels, were normal.- - - - - - - - - - ranking = 0.33333333333333keywords = bone (Clic here for more details about this article) |
8/79. Hypophosphatemic rickets presenting as recurring pedal stress fractures in a middle-aged woman.Stress fractures frequently occur from overtraining. When stress fractures recur, underlying metabolic abnormalities should be ruled out. We report a middle-aged woman in whom such an evaluation demonstrated previously undiagnosed hypophosphatemic rickets after she presented with recurring stress fractures in her feet. Treatment with phosphate and calcitriol was associated with clinical improvement that would likely not have occurred without this intervention. Any patient with recurring stress fractures should be evaluated with several screening laboratory tests, metabolic bone x-rays, and a measurement of bone mineral density.- - - - - - - - - - ranking = 0.66666666666667keywords = bone (Clic here for more details about this article) |
9/79. 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 = 1.3333333333333keywords = bone (Clic here for more details about this article) |
10/79. Severe hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.hypophosphatasia is a rare autosomal recessive inborn error of metabolism characterized by a defective bone mineralisation and deficiency of serum and tissue liver/bone/kidney alkaline phosphatase activity. We report the characterisation of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutation in a patient affected by infantile hypophosphatasia. This boy was the first child of non affected, non related parents. At 1 month of age he presented with palsy of the left upper limb with hypotonia. Length was - 2SD. The anterior fontanel was large. There was a markedly decreased ossification of all bones. All limbs were shortened. Ultrasonographic examination of the kidneys showed nephrocalcinosis. Level of alkaline phosphatases was decreased in the child as well as in the parents. bone density was decreased. At 2 years of age development was delayed. Weight was - 3,5 SD and OFC - 3SD. The child had craniosynostosis. Molecular studies showed 2 missense mutations, both in exon 6 of the TNSALP gene.- - - - - - - - - - ranking = 1keywords = bone (Clic here for more details about this article) |
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