1/83. 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 = 1keywords = deficiency (Clic here for more details about this article) |
2/83. hypocalcemia due to spontaneous infarction of parathyroid adenoma and osteomalacia in a patient with primary hyperparathyroidism.A 49 year-old Japanese woman had subjected enlargement of a cervical tumor, and also suffered two bone fractures in 2 years. The cervical tumor had enlarged further in the month prior to admission, becoming warm and tender. Endocrinological examination revealed that the serum intact PTH concentration was remarkably high at 400 pg/mL despite the low serum calcium concentration, and that the serum vitamin Ds concentration was decreased. Bone roentgenograms revealed severe osteolytic changes compatible with osteitis fibrosa cystica and a pathologic fracture of the humerus. Under a diagnosis of primary hyperparathyroidism, parathyroidectomy was performed, followed by fixation surgery for the pathologic fracture. Histologically, the cervical tumor was a parathyroid chief-cell adenoma with massive necrosis, and the bone pathology by iliac bone biopsy revealed the existence of osteomalacia. She was treated with calcium, vitamins D and K2 and calcitonin after the surgery. This case is a rare condition manifesting hypocalcemia with catastrophic osteoporosis under the coexistence of spontaneous infarction of parathyroid adenoma with osteomalacia, suggesting that the clinical features of hyperparathyroidism are modified by both the autoparathyroidiectomy and the existence of osteomalacia due to vitamin d deficiency.- - - - - - - - - - ranking = 0.2keywords = deficiency (Clic here for more details about this article) |
3/83. Long-chain 3-hydroxyacyl-coa dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia.patients with long-chain 3-hydroxyacyl-coa dehydrogenase (LCHAD) deficiency present with a Reye-like syndrome, cardiomyopathy, or sudden unexpected death. We describe an unusual presentation in a patient with unsuspected LCHAD deficiency. The proband presented at 2 months of age with an acute infantile hypocalcaemia and vitamin d deficiency associated with occult, unexplained cholestatic liver disease. Sudden, unexpected death occurred at 8 months. Molecular analysis revealed homozygosity for the prevalent LCHAD (1528G > C, E474Q) mutation. The mother had pre-eclampsia during the third trimester of her pregnancy. In a subsequent pregnancy, she developed severe acute fatty liver of pregnancy (AFLP) and intrauterine fetal death at 33 weeks of gestation. In conclusion, infantile hypocalcaemia is an unusual phenotype associated with LCHAD deficiency. The maternal pregnancy history documents that fetal LCHAD deficiency is associated with a spectrum of maternal illnesses ranging from pre-eclampsia to life-threatening AFLP.- - - - - - - - - - ranking = 1.8keywords = deficiency (Clic here for more details about this article) |
4/83. 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 = 1keywords = deficiency (Clic here for more details about this article) |
5/83. Severe myopathy associated with vitamin d deficiency in western new york.Five cases of severe myopathy associated with vitamin d deficiency are described. Each patient was confined to a wheelchair because of weakness and immobility. Two were elderly, 1 was a 37-year-old African American with type 1 diabetes mellitus, 1 was being treated for carcinoid syndrome, and 1 was severely malnourished due to poor oral intake. In each, weakness had previously been attributed to other causes, including old age, concomitant diabetic neuropathy, or general debility. Correct diagnosis was made initially by a high index of suspicion, following the demonstration of clinical proximal myopathy; confirmation was made by the demonstration of low 25-hydroxyvitamin D and elevated parathyroid hormone concentrations. Treatment with vitamin D caused a resolution of body aches and pains and a restoration of normal muscle strength in 4 to 6 weeks. Four patients became fully mobile and had normal 25-hydroxyvitamin D concentrations, and the fifth also became mobile. In the 4 fully recovered cases, parathyroid hormone levels on follow-up were lower but still elevated. This finding suggests a degree of autonomy of parathyroid secretion known to occur in cases of long-standing vitamin d deficiency. Myopathy, due to chronic vitamin d deficiency, probably contributes to immobility and ill health in a significant number of patients in the northern united states. An awareness of this condition may significantly improve mobility and quality of life in patient populations vulnerable to vitamin d deficiency.- - - - - - - - - - ranking = 1.6keywords = deficiency (Clic here for more details about this article) |
6/83. 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 = 1keywords = deficiency (Clic here for more details about this article) |
7/83. 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 = 1.2keywords = deficiency (Clic here for more details about this article) |
8/83. A variation of vitamin d deficiency in children.We report three children presenting with hypocalcemia, hyperphosphatemia, elevated levels of parathyroid hormone, low concentrations of 25(OH)-vitamin D, normal to elevated concentrations of 1,25(OH)2-vitamin D, and normal radiographs. Although these findings led to consideration of parathyroid hormone resistance, clinical and biochemical findings remained normal after discontinuation of therapy, suggesting a variation of vitamin d deficiency.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
9/83. 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 = 1keywords = deficiency (Clic here for more details about this article) |
10/83. Treatable lower motor neuron disease due to vitamin d deficiency and secondary hyperparathyroidism.vitamin d deficiency and osteomalacia are frequently associated with muscle weakness and atrophy. We present a 78-year-old man with complaints of progressive painless weakness who was referred to us with a diagnosis of suspected motor neuron disease. Results of the neurological examination were remarkable, showing diffuse limb weakness and atrophy, rare fasciculations, normal sensory examination, no bulbar weakness, and no upper motor neuron signs. electromyography revealed mild chronic changes, denervation and re-innervation, without fibrillations or positive waves. serum laboratory studies showed an elevated serum parathyroid hormone and markedly reduced vitamin D level. Although the etiology of the vitamin d deficiency was not determined, the patient made a substantial clinical improvement following vitamin D therapy. vitamin d deficiency and secondary hyperparathyroidism need to be included in the differential diagnosis of patients presenting with a progressive lower motor neuron disease.- - - - - - - - - - ranking = 1.4keywords = deficiency (Clic here for more details about this article) |
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