Cases reported "Vitamin D Deficiency"

Filter by keywords:



Filtering documents. Please wait...

1/38. 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.
- - - - - - - - - -
ranking = 1
keywords = rickets
(Clic here for more details about this article)

2/38. 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.
- - - - - - - - - -
ranking = 1.2
keywords = rickets
(Clic here for more details about this article)

3/38. 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.
- - - - - - - - - -
ranking = 1
keywords = rickets
(Clic here for more details about this article)

4/38. Malignant osteopetrosis obscured by maternal vitamin d deficiency in a neonate.

    A neonate presented with clinical, biochemical, endocrine and radiographic features consistent with vitamin d deficiency rickets of maternal origin. Persistent hypocalcemia and subsequent development of pancytopenia, hemolysis and hepatosplenomegaly prompted further studies that led to the diagnosis of infantile osteopetrosis. CONCLUSION: osteopetrosis is an important differential diagnosis of neonatal rickets and is not excluded by low vitamin D levels.
- - - - - - - - - -
ranking = 0.4
keywords = rickets
(Clic here for more details about this article)

5/38. rickets in an infant with williams syndrome.

    Calcium homeostasis is altered in patients with williams syndrome. We report an infant in whom williams syndrome was diagnosed at 4 weeks who presented with hypercalcemia, hypercalciuria, and medullary nephrocalcinosis. fluorescence in situ hybridization demonstrated a deletion of the elastin gene on chromosome 7. This infant was treated with a low-calcium/vitamin D-deficient infant formula that resulted in the development of rickets. Replacement of the low-calcium/vitamin D-deficient formula with standard formula led to resolution of the rickets.
- - - - - - - - - -
ranking = 0.4
keywords = rickets
(Clic here for more details about this article)

6/38. 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 = 1.2
keywords = rickets
(Clic here for more details about this article)

7/38. Vitamin D-deficient rickets: a multifactorial disease.

    We present a case of an African-American child with vitamin D-deficient rickets. In addition to being solely breast-fed for the period of 1 year, he resided in new england, where exposure to ultraviolet light is limited owing to its northern latitude and long cold winters. He presented with classical signs of nutritional rickets and was immediately responsive to treatment with vitamin D supplementation.
- - - - - - - - - -
ranking = 1.2
keywords = rickets
(Clic here for more details about this article)

8/38. vitamin d deficiency in breast-fed toddlers.

    SUMMARY: The evaluation of genu varum and intoeing in young toddlers is a frequent problem seen by the primary care physician and the orthopaedic surgeon. This report describes six nonwhite breast-fed toddlers with extreme genu varum. Clinical and radiographic findings were consistent with vitamin D-deficiency rickets. Within 3 to 6 months of the initiation of ergocalciferol treatment, reparative processes were evident on both radiographic and clinical examinations. Laboratory studies also showed underlying correction. With the current emphasis on the benefits of breast-feeding and the limitation of sunlight, this diagnosis must remain on the differential in the evaluation of genu varum.
- - - - - - - - - -
ranking = 0.2
keywords = rickets
(Clic here for more details about this article)

9/38. vitamin d deficiency rickets. Two cases with faulty infant feeding practices.

    Two cases of vitamin d deficiency rickets verify the occurrence of deficiency rickets in the united states in 1973. The two cases demonstrate the need for periodic reviews of feeding practices, especically when the possibility of so-called milk allergy is postulated. This may lead to avoidance of milk products. Fortification of various kinds of food with vitamin D does not ensure the protection from nutritional rickets of all children with peculiar feeding habits.
- - - - - - - - - -
ranking = 1.4
keywords = rickets
(Clic here for more details about this article)

10/38. Severe congenital rickets secondary to maternal hypovitaminosis D: a case report.

    We report a full-term baby boy who presented soon after birth with severe congenital rickets. Maternal and neonatal vitamin D levels were very low and the infant responded well to oral vitamin D. Transient secondary hyperparathyroidism normalised on treatment. The mother's vitamin d deficiency was attributed to the region's cultural dress code which prevents exposure to sunlight. There has not been a previous report of severe congenital rickets from this region.
- - - - - - - - - -
ranking = 1.2
keywords = rickets
(Clic here for more details about this article)
| Next ->


Leave a message about 'Vitamin D Deficiency'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.