Cases reported "Rickets"

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1/207. 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.
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2/207. 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.
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3/207. An inborn error of bile acid synthesis (3beta-hydroxy-delta5-C27-steroid dehydrogenase deficiency) presenting as malabsorption leading to rickets.

    Deficiency of 3beta-hydroxy-delta5-C27-steroid dehydrogenase (3beta-HSDH), the enzyme that catalyses the second reaction in the principal pathway for the synthesis of bile acids, has been reported to present with prolonged neonatal jaundice with the biopsy features of neonatal hepatitis. It has also been shown to present between the ages of 4 and 46 months with jaundice, hepatosplenomegaly, and steatorrhoea (a clinical picture resembling progressive familial intrahepatic cholestasis). This paper reports two children with 3beta-HSDH deficiency who developed rickets during infancy and did not develop clinically evident liver disease until the age of 3 years. bile acid replacement resulted in considerable clinical and biochemical improvement. The importance of thorough investigation of fat soluble vitamin deficiencies in infancy is emphasised.
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4/207. Dilated cardiomyopathy as a first sign of nutritional vitamin d deficiency rickets in infancy.

    A five-month-old boy presented with severe dilated cardiomyopathy, requiring intravenous inotropes as part of the initial management. He was found to have hypocalcemia due to vitamin d deficiency rickets. His cardiac function recovered completely after six months of vitamin D supplementation.
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5/207. 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.
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6/207. rickets on MR images.

    BACKGROUND: The pathologic changes at the physis in patients with rickets have been well demonstrated histologically. Radiographs can depict only the associated osseous abnormalities. patients AND methods: We report two children in whom MR imaging demonstrated rachitic changes in the physeal cartilage beyond the well-recognized bony features. RESULTS: The striking appearance of the physes and the physes of the secondary ossification centers confirm that MR imaging can successfully evaluate the cartilaginous structures of the developing skeleton. CONCLUSION: Though MR imaging is clearly unnecessary for the diagnosis of rickets, it is important that the typical features are not misinterpreted as other pathology.
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7/207. Myelofibrosis: an unusual presentation of vitamin D-deficient rickets.

    We present the case of a breast-fed 5-month-old infant who presented with pancytopenia, secondary to intense myelofibrosis during the winter months because of undiagnosed rickets. The patient responded to oral vitamin D with rapid resolution of symptoms. Secondary hyperparathyroidism was the probable cause of the myelofibrosis. CONCLUSION: Although nutritional rickets remains a problem in developing countries, children in northern climates in industrialized countries may also be at risk. rickets must be considered when assessing myelofibrosis in a very young child.
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8/207. Multiple nutritional deficiencies in infants from a strict vegetarian community.

    Severe nutritional deficiencies developed in four infants from a new vegan religious community. They had received breast milk until the age of 3 months; thereafter, breast milk was supplemented with or replaced by extremely low caloric-density preparations. All of the infants had profound protein-caloric malnutrition, severe rickets, osteoporosis, and vitamin B12 and other deficiencies. One infant died, while the three others had an uneventful recovery. After discharge of the infants from the hospital, the community responded well to a modification of the infants' diet, which did not violate their vegetarian philosophy. However, they refused to give their infants vitamin B12 on a regular basis.
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9/207. No enzyme activity of 25-hydroxyvitamin D3 1alpha-hydroxylase gene product in pseudovitamin D deficiency rickets, including that with mild clinical manifestation.

    Pseudovitamin D deficiency rickets (PDDR) is an autosomal recessive disorder caused by defect in the activation of vitamin D. We recently isolated 25-hydroxyvitamin D3 1alpha-hydroxylase gene and identified four homozygous inactivating missense mutations in this gene by analysis of four typical cases of PDDR. This disease shows some phenotypic variation, and it has been suspected that patients with mild phenotypes have mutations that do not totally abolish the enzyme activity. To investigate the molecular defects associated with the phenotypic variation, we analyzed six additional unrelated PDDR patients: one with mild and five with typical clinical manifestation. By sequence analysis, all six patients were proven to have mutations in both alleles. The mutations varied, and we identified four novel missense mutations, a nonsense mutation, and a splicing mutation for the first time. The patient with mild clinical symptoms was compound heterozygous for T321R and a splicing mutation. The splice site mutation caused intron retention. Enzyme activity of the T321R mutant was analyzed by overexpressing the mutant 1alpha-hydroxylase in escherichia coli cells to detect the subtle residual enzyme activity. No residual enzyme activity was detected in T321R mutant or in the other mutants. These results indicate that all of the patients, including those of mild phenotype, are caused by 1alpha-hydroxylase gene mutations that totally abolish the enzyme activity.
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10/207. malnutrition in infants receiving cult diets: a form of child abuse.

    Severe nutritional disorders, including kwashiorkor, marasmus, and rickets, were seen in four children and were due to parental food faddism, which should perhaps be regarded as a form of child abuse. All disorders were corrected with more normal diets and vitamin supplements. In view of the potentially serious consequences of restricted diets being fed to children, families at risk should be identified and acceptable nutritional advice given. When children are found to be suffering from undernutrition due to parental food faddism a court order will normally be a necessary step in providing adequate treatment and supervision.
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