1/114. 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 = rickets, vitamin (Clic here for more details about this article) |
2/114. 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 = 0.03749474439631keywords = vitamin (Clic here for more details about this article) |
3/114. 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 = 1.1350091097131keywords = rickets, vitamin (Clic here for more details about this article) |
4/114. Successful pregnancy outcome in a woman with a gain-of-function mutation of the calcium-sensing receptor. A case report.BACKGROUND: Gain-of-function mutations of the calcium-sensing receptor gene have recently been identified as a cause of familial hypercalciuric hypocalcemia. There have been no earlier reported cases of pregnancy among patients with this disorder. CASE: A 26-year-old woman, gravida 1, para 0, was diagnosed at age 18 as being a heterozygous carrier of a mutation in the calcium-sensing receptor gene. Stable maternal hypocalcemia was achieved during pregnancy with high-dose calcium and 1,25-dihydroxyvitamin D3 therapy. prenatal diagnosis was accomplished via amniocentesis at 16 weeks' gestation. The patient underwent cesarean delivery at 35 5/7 weeks' gestation after developing the hellp syndrome. CONCLUSION: patients with mutations of the calcium-sensing receptor may have a successful pregnancy outcome. This abnormality may be transmitted to the fetus via an autosomal dominant pattern.- - - - - - - - - - ranking = 0.012498248132103keywords = vitamin (Clic here for more details about this article) |
5/114. 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 = 0.012498248132103keywords = vitamin (Clic here for more details about this article) |
6/114. High bone mass and hypocalcaemic myopathy in a patient with idiopathic hypoparathyroidism.The clinical manifestations of hypoparathyroidism are mainly characterised by increased neuromuscular irritability as a consequence of hypocalcaemia. Occasionally, elevation of the muscle enzymes may mimic polymyositis. Reduced parathyroid hormone production, but also vitamin D treatment and calcium supplementation, may contribute to the increased bone mass found in patients with postsurgical hypoparathyroidism. We report the case of a 36-year-old woman with untreated idiopathic hypoparathyroidism and a high bone mass despite severe muscle impairment due to hypocalcaemic myopathy.- - - - - - - - - - ranking = 0.012498248132103keywords = vitamin (Clic here for more details about this article) |
7/114. ECG changes in a 25-year-old woman with hypocalcemia due to hypoparathyroidism. hypocalcemia mimicking acute myocardial infarction.The case of a 25-year-old woman presenting with chest pain, ECG changes, and laboratory findings suggestive of myocardial infarction is reported. cardiac catheterization showed impaired left ventricular performance but otherwise normal coronary arteries. Laboratory analyses revealed primary hypoparathyroidism, and supplementation with calcium and vitamin D(3) was initiated. There was subsequent improvement in laboratory findings as well as echocardiographically determined left ventricular performance. Thereafter, the patient remained asymptomatic. Apart from some persisting ECG repolarization disturbances, there was complete normalization of the initial changes. This case demonstrates a combination of clinical, blood biochemical, and ECG findings mimicking acute myocardial infarction.- - - - - - - - - - ranking = 0.012498248132103keywords = vitamin (Clic here for more details about this article) |
8/114. Gonadotropin-dependent sexual precocity in a boy affected by pseudohypoparathyroidism.pseudohypoparathyroidism (PHP) is characterized by hypocalcemia and hyperphosphatemia due to PTH resistance. PHP type Ia is due to diminished G(s)alpha activity in several tissues, causing resistance to hormones whose action is mediated by cAMP. Only two cases of males with PTH type Ia who paradoxically showed sexual precocity have been described in the literature. We describe an 11.5 year-old boy affected by PHP without AHO but with associated true precocious puberty, who came to the I.C.U. for tetanic seizures and drowsiness due to severe hypocalcemia. hyperphosphatemia, increased PTH levels and normal 25-OH-vitamin D values were present. Skeletal X-ray showed mild osteopenia. brain MRI revealed symmetric calcifications in basal ganglia and in frontal areas. Thyroid and thyreotropinic function were normal. testosterone levels were in the adult range, as well as basal and stimulated gonadotropin levels. Tanner stage P4, G4; testicular volume 12-15 mi. Molecular cytogenetics studies are now underway to further elucidate the etiology of this form of PHP.- - - - - - - - - - ranking = 0.012498248132103keywords = vitamin (Clic here for more details about this article) |
9/114. A man with osteoblastic metastasis and hypocalcaemia.We report a case of an 80-year-old man with osteoblastic metastases from advanced carcinoma of the prostate presenting with a grand mal seizure resulting from severe hypocalcaemia. He had low serum phosphate and ionised calcium levels, elevated serum skeletal alkaline phosphatase and intact parathormone levels. 99mTc radioisotope bone scan revealed a "super bone scan" suggestive of osteomalacia. The serum 1, 25-dihydroxycholecalciferol level was unexpectedly elevated. The biochemical abnormalities persisted despite high dose calcium replacement, but improved with supraphysiological doses of 1,25 (OH)2 vitamin D3 (Rocaltrol) therapy. We hypothesise that the hypocalcaemia in this patient was due to vitamin D resistance secondary to a humoral factor secreted by the tumour.- - - - - - - - - - ranking = 0.024996496264207keywords = vitamin (Clic here for more details about this article) |
10/114. Hyperpyrexia secondary to acute hypocalcemic status. Is there a role for calcitonin therapy in bone metabolism derangements due to anticonvulsant drugs?hypocalcemia, hyperparathyroidism, hypovitaminosis D, hypocalcitoninemia and decreased bone mass are side effects of several anticonvulsant drugs. Since calcitonin inhibits the mineral mobilization of bone and augments minerals bone content, combined therapy with calcitonin, calcium, vitamin-C and vitamin-D was administrated to a patient with severe anticonvulsant disturbances of bone metabolism. calcitonin hypersensitivity was evident. The symptomatology, characterized by the rare hypocalcemic hyperpyrexia, regressed after calcium infusion.- - - - - - - - - - ranking = 0.03749474439631keywords = vitamin (Clic here for more details about this article) |
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