Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Familial hypomagnesemia with secondary hypocalcemia (OMIM 602014) is an autosomal recessive disease that results in electrolyte abnormalities shortly after birth. Affected individuals show severe hypomagnesemia and hypocalcemia, which lead to seizures and tetany. The disorder has been thought to be caused by a defect in the intestinal absorption of magnesium, rather than by abnormal renal loss of magnesium. Restoring the concentrations of serum magnesium to normal values by high-dose magnesium supplementation can overcome the apparent defect in magnesium absorption and in serum concentrations of calcium. Life-long magnesium supplementation is required to overcome the defect in magnesium handling by these individuals. We previously mapped the gene locus to chromosome 9q in three large inbred kindreds from Israel. Here we report that mutation of TRPM6 causes hypomagnesemia with secondary hypocalcemia and show that individuals carrying mutations in this gene have abnormal renal magnesium excretion.
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PMID:Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia. 1203 70

Abnormalities in serum phosphate levels are more prevalent in certain subsets of Emergency Department patients than in the general population. Patients with diabetic ketoacidosis, chronic obstructive pulmonary disease, alcoholism, malignancy, and renal failure are at increased risk. Multiple factors, including nutritional intake, medications, renal or intestinal excretion, and cellular redistribution, are potential etiologies. The clinical manifestations of mild hypophosphatemia or hyperphosphatemia are typically minor and nonspecific (myalgias, weakness, anorexia). When the imbalance is severe, critical complications may occur (tetany, seizures, coma, rhabdomyolysis, respiratory failure, ventricular tachycardia). Mild asymptomatic hypophosphatemia can be treated with oral phosphate supplementation (15 mg/kg daily) on an outpatient basis. Patients with severe or symptomatic hypophosphatemia should be treated with IV phosphate therapy (0.08-0.16 mg/kg over 6 h) and admitted for monitoring and subsequent serum electrolyte testing. Mild asymptomatic hyperphosphatemia is commonly managed in renal failure by limiting dietary intake and reducing absorption with phosphate-binding salts. Hemodialysis may be required for severe hyperphosphatemia with symptomatic hypocalcemia.
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PMID:Serum phosphate abnormalities in the emergency department. 1248 22

A 54-year-old man with a history of generalised tonic clonic seizures presented with complaints of daily unilateral stiffening of the limbs, preceded by paraesthesia. Two years before he had been treated with surgery and radiotherapy for a laryngo-pharyngeal carcinoma. Therefore, epilepsy due to intracerebral metastasis was suggested. However, neither CT nor MRI of the brain (with intravenous contrast) showed any abnormalities and the EEG showed no epileptiform discharges. Laboratory tests revealed elevated levels of thyroid-stimulating hormone in the blood, hypocalcaemia, hyperphosphataemia and hypomagnesaemia. In combination with the medical history, tetany was found to be the correct diagnosis. In this patient, tetany was caused by hypoparathyroidism secondary to surgery and radiotherapy in the neck region. He was treated with levothyroxine, magnesium, calcium, and vitamin D and recovered in a few weeks' time. Hypothyroidism and hypoparathyroidism are common complications after treatment (surgery, radiotherapy and/or chemotherapy) for laryngo-pharyngeal carcinoma and other malignancies in the neck region.
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PMID:[Clinical reasoning and decision making in practice. A man with unilateral attacks of muscular rigidity following neck surgery for a malignant tumor]. 1461 2

The hallmark of acute hypocalcemia (ionized calcium <0.75 mmol/l) is tetany, which is characterized by neuromuscular irritability. The symptoms may be mild with circumoral numbness, paresthesias of hands and feet, and muscular cramps or severe with laryngospasm, focal or generalized tonic muscle cramps, or seizures. Myocardial dysfunction and prolongation of QT interval also may occur. Most often, acute hypocalcemia occurs after thyroid or parathyroid surgery. Rarer cases are intravascular binding of ionized calcium by phosphate, citrate, or drugs such as foscarnet or bisphosphonates. The most appropriate treatment is intravenous calcium, in the form of 100-200 mg of elemental calcium. Thereafter, the therapy depends on the underlying disease. In most cases vitamin D has to be added to calcium substitution. In cases of hypomagnesemia, magnesium and not calcium has to be substituted. It has not yet been proven in clinical trials whether substitution of magnesium and/or calcium influences the clinical outcome in patients with severe sepsis or pancreatitis who show both hypomagnesemia and hypocalcemia.
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PMID:[Tetany]. 1468 85

Vitamin D-deficient rickets is uncommon but becoming more prevalent in the pediatric population likely related to increases in breast-feeding. It should be considered in many clinical situations. We present 3 cases of rickets presenting acutely to the emergency department. Their presentations included a fracture concerning for child abuse, tetany, and hypocalcemic seizures. In all cases, laboratory and radiographic evaluations were consistent with the diagnosis of nutritional rickets and their symptoms were related to rickets resolved with appropriate treatment. Although uncommon, vitamin D-deficient rickets should be considered in children with the above presentations.
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PMID:Variable presentations of rickets in children in the emergency department. 1475 13

Hypoparathyroidism is a relatively common side effect of a thyroidectomy and leads to hypocalcemia. Carpopedal spasm and tetany are typical manifestations and usually occur within weeks after surgery. The first signs can be less typical and include movement disorders such as chorea, as well as symptoms of increased intracranial pressure or epileptic seizures. We describe two cases with generalised tonic-clonic seizures as the first manifestation of postoperative hypoparathyroidism, appearing months and years after thyroidectomy. Iatrogenic hypoparathyroidism needs to be considered in the differential diagnosis of adult-onset, generalised, tonic-clonic seizures even if the thyroidectomy was performed years earlier.
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PMID:Hypocalcemic generalised seizures as a manifestation of iatrogenic hypoparathyroidism months to years after thyroid surgery. 1524 52

The problem of intracranial calcifications in children has not been widely discussed in the literature yet. The aim of this study is to emphasise different clinical aspects of intracranial calcifications found in subcortical nuclei and cerebellum in children with disturbed calcium metabolism. We report three different cases of hypoparathyroidism in children in whom similar radiological changes on computed tomography (CT) of the brain were found. An 11-year-old boy was referred to us after episode of tetany. We confirmed the diagnosis of idiopatic hypoparathyroidism (presence of Chvostek and Trousseau signs, hypocalcemia, hyperphosphatemia, low parathormone serum concentration). On brain CT small, symmetric calcifications in the subcortical nuclei and frontal lobes were imaged. A diagnosis of pseudohypoparathyroidism type Ib in 10-year-old girl was established on the basis of clinical symptoms (syncope with seizures, recurrent carpopedal spasms in the past) and laboratory investigations (hypocalcemia, hyperphosphatemia, high parathormone serum concentration). In 11-year-old girl autoimmune polyglandular syndrome type I was diagnosed (hypoparathyroidism with chronic mucocutaneous candidiasis and nail dystrophy from the age of 2). CT of the brain showed multiple irregular symmetric calcifications in cerebellar hemispheres, internal capsula and subcortical nuclei on the border of white and grey matter in both frontal lobes.
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PMID:[Association of brain computed tomography images of intracranial calcifications in three different cases of hypoparathyroidism]. 1550 18

Hypomagnesemia with secondary hypocalcemia (HSH) is a rare inherited disease, characterised by neurological symptoms, such as tetany, muscle spasms and seizures, due to hypocalcemia. It has been suggested that HSH is genetically heterogeneous, but only one causative gene, TRPM6, on chromosome 9 has so far been isolated. We have now studied the genetic background of HSH in four Polish patients belonging to three families, and a HSH patient carrying an apparently balanced X;9 translocation. The translocation patient has long been considered as an example of the X-linked form of HSH. We identified six TRPM6 gene mutations, of which five were novel, in the Polish patients. All the alterations were either nonsense/splicing or missense mutations. The clinical picture of the patients was similar to the HSH patients reported earlier. No genotype-phenotype correlation could be detected. Sequencing did not reveal any TRPM6 or TRPM7 gene mutations in the female HSH patient with an X;9 translocation. Isolation of the translocation breakpoint showed that the chromosome 9 specific breakpoint mapped within satellite III repeat sequence. The X-chromosomal breakpoint was localised to the first intron of the vascular endothelial growth factor gene, VEGFD. No other sequence alterations were observed within the VEGFD gene. Even though the VEGFD gene was interrupted by the X;9 translocation, it seems unlikely that VEGFD is causing the translocation patient's HSH-like phenotype. Furthermore, re-evaluation of patient's clinical symptoms suggests that she did not have a typical HSH.
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PMID:Genetic background of HSH in three Polish families and a patient with an X;9 translocation. 1626

Hypoparathyroidism can result from lack or decreased secretion of parathormon (PTH) or from defective responsiveness of effector organs to PTH. Neurological signs of hypoparathyroidism include symptomatic or latent tetany, seizures, in the case of basal ganglia and cerebellar calcifications also choreoatetosis, parkinsonism and cerebellar syndrome. Seizures may occur at any age and are usually generalized tonic-clonic ones. They may also precede other signs of impaired function of extrapyramidal system. The aim of the study was the assessment of neurological signs in children with hypoparathyroidism and also the evaluation of different neuroimaging procedures especially magnetic resonance spectroscopy. In the recent two years 4 children were diagnosed as suffering from hypoparathyroidism. The cause for admitting children were paroxysmal states. Because of drug-resistant epilepsy antiepileptic drugs have been administered in one child for 8 years. In one case during the neurological examination signs of cerebellar syndrome were observed. EEG showed paroxysmal changes in three cases. Performed computed tomography (CT) of the head revealed basal ganglia calcifications. In the child with ataxia magnetic resonance imaging (MRI) demonstrated small atrophic areas in the cerebellum. The neuroimaging diagnostics was supplemented by the 1H magnetic resonance spectroscopy (MRS). The spectra were recorded from the areas localized within subcortical nuclei as well as from frontal (white matter) and temporal lobes. In case of all the 1H MRS spectra obtained from the subcortical nuclei regions significant decrease in the NAA/tCr ratio was observed which could reflect the reduced concentration of N-acetyloaspartate, known as a neurons marker. All the metabolic profiles obtained from the spectra point to severe metabolic disturbances. The applied therapy (calcium, magnesium, Vit D3 preparations) allowed for seizures disapearance.
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PMID:[Neurological picture and 1H MRS in 4 children with hypoparathyroidism]. 1646 1

We report here on a girl and her father with HDR syndrome (Hypoparathyroidism, sensorineural Deafness and Renal anomaly syndrome). The proband, an 11 year-old girl, complained of periodic tetany lasting for 6 years, and also used a hearing aid because of sensorineural hearing impairment. Furthermore, she had hemimegalencephaly, and had been taking an anti-epileptic agent to treat psychomotor seizures for 6 years. Endocrine assessment showed modest hypocalcemia, hyperphosphatemia and hypophosphaturia with lower normal parathyroid hormone concentration, and she had no renal abnormalities. Her father, who was 40 years old at the time of the investigation, had sensorineural hearing impairment, a lower than normal calcium level and normal renal function. Direct sequencing after PCR amplification of genomic DNA revealed a novel insertional mutation (405insC) in the GATA3 gene of both patients. This mutation was hypothesized to disrupt dual zinc fingers as well as one transactivating domain. The present findings lend additional support to the notion that the phenotype cannot be precisely estimated from the genotype in HDR syndrome.
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PMID:A novel mutation in the GATA3 gene in a family with HDR syndrome (Hypoparathyroidism, sensorineural Deafness and Renal anomaly syndrome). 1650 33


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