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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hyperostotic bone dysplasias are characterized by progressive hyperostosis and sclerosis of the cranium and facial bones. As a result of progressive bony overgrowth, intracranial pressure may increase and lead to brain and nerve compression, cranial nerve palsies, and an increased incidence of seizures. The long bones often exhibit defective modeling as well as variable degrees of metaphyseal and diaphyseal hyperostosis. In addition, the axial skeleton (including the pelvis) is often hyperostotic and sclerotic. The clinical features of these disorders may have relevance to the outcome of pregnancy; however, there are no reports on the management and pregnancy outcome of patients affected with hyperostotic bone disease. In this report, we describe the course of two pregnancies in a woman with craniodiaphyseal dysplasia (a rare craniotubular dysplasia). Prenatal assessment, method of delivery, choice of anesthesia, and neonatal management are discussed. Although this disorder is rare, the pathophysiologic considerations relevant to pregnancy outcome may be applicable to the management of pregnant women with other hyperostotic bone dysplasias.
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PMID:Management and outcome of two pregnancies in a woman with craniodiaphyseal dysplasia. 198 72

A case of false-negative Tc-99m MDP bone scintigrams, taken at one and two weeks for pathologic fractures in a patient with metabolic bone disease and a super-scan appearance, is described. The patient had renal osteodystrophy, and postparathyroidectomy hypocalcemia. Postoperative seizures caused multiple pathologic fractures. Initial scans were negative for focal tracer localization in the presence of a continued super-scan appearance. After months of calcium and vitamin D replacement therapy, fracture sites became positive on Tc-99m MDP imaging. The observations in this case lend credence to the hypothesis of Tc-99m MDP binding by immature collagen in the production of a super scan in metabolic bone disease, as well as that of Tc-99m MDP chemisorption to calcium hydroxyapatite crystal in fracture healing. In addition, aluminum toxicity, common in chronic renal osteodystrophy, may have played a role in the delayed fracture healing.
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PMID:Pathologic fractures in a patient with renal osteodystrophy. Failure of early detection on bone scans. 360 30

An 8 1/2-year-old girl presented with a long history of seizures, growth retardation, muscle weakness, gait disturbance, and hearing loss. Her evaluation revealed chronic moderate renal failure (serum creatinine 2.2 mg/dL), severe hypocalcemia (5 mg/dL), hyperphosphatemia (8.1 mg/dL), hypomagnesemia (1.5 mg/dL), increased urinary magnesium excretion (2 mg/kg/d), high fractional excretion of magnesium (21.7%), hypokalemia (3.2 mEq/L), and hyperkaliuria (26 mEq/L). Low circulating immunoreactive parathyroid hormone levels for the degree of the hypocalcemia (serum N-parathyroid hormone 212 pg/mL) and severe rickets without evidence of osteitis fibrosa cystica were found. The patient probably has primary renal leak hypomagnesemia (magnesuric hypomagnesemia) which caused impaired secretion of immunoreactive parathyroid hormone leading to severe hypocalcemia and calcium deficiency rickets. Treatment with magnesium and calcium supplements, calcitriol, and aluminum hydroxide resulted in marked clinical, biochemical, and radiologic improvement. Calcium deficiency rickets due to primary or secondary renal magnesium wasting in conjunction with moderate renal failure represents a largely unrecognized metabolic bone disease.
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PMID:Severe renal osteodystrophy without elevated serum immunoreactive parathyroid hormone concentrations in hypomagnesemia due to renal magnesium wasting. 382 40

In patients with chronic renal failure, hyperparathyroidism is a common problem and surgical parathyroidectomy (PTX) is frequently required. The three different surgical approaches are subtotal PTX, total PTX with autotransplantation, and total PTX without autotransplantation. Recurrence of hyperparathyroidism varies from 5% to 80% in different studies for the first two surgical approaches. To minimize the risk for recurrence, and because we fear severe relapses with calciphylaxia, we perform total PTX without autotransplantation. From October 1993 to October 1997, 20 patients (9 men and 11 women) underwent total PTX without autotransplantation (median age, 52 years; range, 23 to 74 years; median dialysis time before PTX, 6.5 years; range, 1 to 22 years). All patients were supplemented with vitamin D analogues postoperatively. Patients were followed up for 1 to 48 months (median, 20 months). Bone pain, when present, disappeared within the first week after total PTX. Postoperatively, most patients had temporary hypocalcemia. In the long term, five patients had asymptomatic hypocalcemia. One patient, however, repeatedly had hypocalcemic seizures. Five patients developed asymptomatic hypercalcemia when supplemented with calcitriol. At the end of the individual's observation time, parathyroid hormone (PTH) levels were less than normal in six patients, normal in seven patients, and increased in seven patients despite total PTX. We conclude that total PTX should be reconsidered an option for the treatment of hyperparathyroidism secondary to renal failure. There was no evidence of clinical bone disease after total PTX. Apparently, remaining ectopic parathyroid tissue accounts for PTH levels after total PTX.
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PMID:Clinical course after total parathyroidectomy without autotransplantation in patients with end-stage renal failure. 1002 43

Normal fetal and neonatal calcium homeostasis is dependent upon an adequate supply of calcium from maternal sources. Both maternal hypercalcemia and hypocalcemia can cause metabolic bone disease or disorders of calcium homeostasis in neonates. Maternal hypercalcemia can suppress fetal parathyroid function and cause neonatal hypocalcemia. Conversely, maternal hypocalcemia can stimulate fetal parathyroid tissue causing bone demineralization. We report two asymptomatic women, one with previously unrecognized hypoparathyroidism and the other with unrecognized familial benign hypercalcemia, who were diagnosed when their newborn infants presented with abnormalities of calcium metabolism. J.B. was born at 34 weeks' gestation with transient hyperbilirubinemia and thrombocytopenia. At 1 month of age he had severe bone demineralization, cortical irregularities, widening and cupping of the metaphyses, and lucent bands in the scapulae. The total serum calcium and phosphorus were normal with an ionized calcium of 5.4 mg/dL (4.6-5.4). His alkaline phosphatase, parathyroid hormone, and 1,25-dihydroxyvitamin D levels were all increased. P.B., mother of J.B., had no symptoms of hypocalcemia either prior to, or during this pregnancy. She had severe hypocalcemia and hyperphosphatemia, laboratory values typical of hypoparathyroidism. J.N. presented at 6 weeks of age with new onset of seizures and tetany secondary to severe hypocalcemia. The serum phosphorus, creatinine, alkaline phosphatase, and parathyroid hormone levels were normal. At 15 weeks of age his calcium was slightly elevated with a low fractional excretion of calcium. P.N., mother of J.N., had no symptoms of hypercalcemia either prior to, or during this pregnancy. Her serum calcium was 12.7 mg/dL and urine calcium was 66.5 mg/24 hr, with a low fractional excretion of calcium ranging from 0.0064 to 0.0073. P.N. has a brother who previously had parathyroid surgery. Both J.N. and P.N. meet the diagnostic criteria for familial benign hypercalcemia. These cases illustrate the important relationships between maternal serum calcium levels and neonatal calcium homeostasis. They emphasize the need to assess maternal calcium levels when infants are born with abnormal serum calcium levels or metabolic bone disease.
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PMID:Disorders of maternal calcium metabolism implicated by abnormal calcium metabolism in the neonate. 1087 87

Fracture and dislocation of major joints may be caused by the forceful tonic muscular contractions of seizure activity. A 77-year-old man who was found dead in bed with no sign of external trauma had bilateral central fracture dislocations of the femoral head through the acetabular floor with fatal pelvic hemorrhage and extensive pulmonary fat and bone marrow embolism. He had epilepsy, but the last seizure was 6 years earlier, and he had long discontinued medication. The fractures were attributed to a new unwitnessed seizure. This is the twentieth case of central fracture dislocation of the hip since 1970, when better anesthesia eliminated convulsive therapy-induced fractures. The authors review these 20 cases. Seizures followed inflammation, infarction or neoplasia of the brain, eclampsia, metabolic or iatrogenic causes, or epilepsy (6 cases, 2 of which had no prior seizures for 5 years). There were 11 men (mean age, 64 years) and 9 women (mean age, 47 years). Fractures were unilateral in 13 and bilateral in 7. Additional fractures (in vertebrae, shoulders, or femur) were present in eight. Only eight had prior bone disease. Local symptoms led to diagnosis in most, but two were identified incidentally on imaging. The current patient was the only one to die suddenly, but six other patients presented with shock and three died (one of whom had injuries that led to a suspicion of manslaughter). Central fracture-dislocation of the hip is a rare and little known consequence of seizures, with strong potential for misdiagnosis and lethal complications.
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PMID:Sudden death from pelvic hemorrhage after bilateral central fracture dislocations of the hip due to an epileptic seizure. 1111 2

We report the case of a 23-month-old male with hypotonia, developmental delay, and complex seizures. Radiographs revealed profound sclerosis of the metaphyses and epiphyses of the long and short bones in the extremities, with a unique pattern of distribution. Sclerosis also involved the anterior ribs, iliac crests, talus, and calcaneus. The skull and vertebral bodies appeared unaffected. Blood lead levels were normal. We believe that this constellation of clinical and radiographic abnormalities closely resembles osteosclerotic metaphyseal dysplasia (OMD) due to an autosomal recessive defect. Characteristic skeletal findings were instrumental in determining the diagnosis. OMD is a very rare sclerosing bone disorder, first described in 1993. The syndrome is characterized clinically by developmental delay of a progressive nature, hypotonia, elevated alkaline phosphatase, and late-onset spastic paraplegia. We encountered a young child with these neurologic symptoms who displayed sclerotic metaphyseal changes on hand radiographs obtained to determine the bone age. Lead poisoning, a known cause of metaphyseal sclerosis, was initially suspected. Careful analysis of the metaphyseal bone changes helped to distinguish this bone dysplasia from lead poisoning and other causes of metaphyseal sclerosis.
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PMID:Osteosclerotic metaphyseal dysplasia: a skeletal dysplasia that may mimic lead poisoning in a child with hypotonia and seizures. 1249 29

Adults taking antiepileptic drugs (AEDs) have an augmented risk for osteopenia and osteoporosis because of abnormalities of bone metabolism associated with AEDs. The increased fracture rates that have been described among patients with epilepsy may be related both to seizures and to AEDs. The hepatic enzyme-inducing AEDs phenytoin, phenobarbital, and primidone have the clearest association with decreased bone mineral density (BMD). Carbamazepine, also an enzyme-inducing drug, and valproate, an enzyme inhibitor, may also adversely affect bone, but further study is needed. Little information is available about specific effects of newer AEDs on bone. Physicians are insufficiently aware of the association between AEDs and bone disease; a survey found that fewer than one-third of neurologists routinely evaluated AED-treated patients for bone disease, and fewer than 10% prescribed prophylactic calcium and vitamin D. Physicians should counsel patients taking AEDs about good bone health practices, and evaluation of bone health by measuring BMD is warranted after 5 years of AED treatment or before treatment in postmenopausal women.
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PMID:Epilepsy and bone health in adults. 1512 8

Attendees of the American College of Physicians 2003 annual meeting were invited to complete a computerized version of the Knowledge of Women's Issues and Epilepsy (KOWIE-II) questionnaire. This 10-item survey includes items specific to issues that affect women with epilepsy (WWE), including hormone sensitive seizures, effects of antiepileptic drugs (AEDs) on oral contraception, bone health, sexual function, pregnancy, and breast-feeding. A total of 202 healthcare providers (HCP) responded to the survey, 92% of which identified themselves as physicians. Few understood the effects of endogenous steroid hormones on seizure threshold (24%) and that epilepsy is associated with an increased incidence of female sexual dysfunction (37%). Most knew that enzyme-inducing AEDs may reduce the efficacy of oral contraceptives (71%) and that certain AEDs are associated with bone disease (77%). The majority were aware that most WWE have healthy children (86%), that women do not need to discontinue AEDs during pregnancy (75%), and that the most appropriate AED during pregnancy is one that best addresses the patient's seizures. Fewer than half (47%) of participants knew that women taking AEDs could breast-feed safely. This sample of HCPs was not adequately informed about the unique issues affecting WWE. An aggressive educational effort is necessary to close the gaps in knowledge.
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PMID:Knowledge of women's issues and epilepsy (KOWIE-II): a survey of health care professionals. 1565 39

(1) Patients who require dialysis for chronic renal failure develop phosphocalcium metabolic disorders that often lead to secondary hyperparathyroidism. Standard treatment consists of a phosphate chelator and vitamin D, along with the use of an appropriate calcium concentration in the dialysis bath, but is difficult to manage. (2) Parathyroid cancer is a rare malignancy frequently associated with hypercalcaemia. (3) Cinacalcet is a calcimimetic agent that reduces the parathormone level. Clinical evaluation includes more than a dozen dose-finding studies and clinical trials. The optimal dose seems to range from 30 to 180 mg/day and varies widely from one patient to another. (4) 3 double-blind placebo-controlled trials, lasting for a maximum of one year and involving a total of 1136 dialysis patients with chronic renal failure, showed no improvement in quality of life with cinacalcet. The target parathormone level was reached by 40% of patients on cinacalcet versus 5% of patients on placebo, while the effects of cinacalcet on calcium levels (-7%) and phosphate levels (-8%) were modest. No impact on bone complications is mentioned in available reports. (5) The assessment of treatment of parathyroid cancer is limited to one ongoing non comparative trial involving 21 patients. (6) During clinical trials, 11% of dialysis patients had low parathormone levels, creating a risk of adynamic bone disease and fractures, but available data are sparse. (7) Two-thirds of patients receiving cinacalcet have episodes of hypocalcaemia, which may in part account for reports of seizures (1.4% of patients), nausea (31%) and vomiting (27%). Many adverse effects seen in animal studies have not been adequately investigated in the clinical setting, such as an increase in the QT interval, thyroid disorders, and sexual dysfunction. Cinacalcet is a powerful CYP 2D6 inhibitor and is also metabolised by isoenzymes CYP 3A4 and CYP 1A2, creating an increased risk of drug interactions. (8) In practice, treatment with cinacalcet seems difficult to manage and to provide only limited benefits. Available assessment reports leave many questions unanswered, and this is a further reason not to use this product outside of clinical trials, either after failure of phosphate chelator and vitamin D therapy (especially as an alternative to surgery) or in parathyroid cancer.
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PMID:Cinacalcet: new drug. Secondary hyperparathyroidism: where are the clinical data? 1676 95


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