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)

Primary hypoparathyroidism was diagnosed in three St. Bernard bitches. Anorexia, behavioural changes, muscle tremors, seizures, panting respiration, and cataracts were the clinical signs observed. The serum concentration of calcium was low, the phosphorus concentration elevated, and the immunoreactive parathyroid hormone level low in all dogs. The aetiology of the hypoparathyroidism was not determined in any of the dogs. Treatment with synthetic vitamin D (1,25-dihydroxycholecalciferol) and an oral calcium supplement was successful in restoring and then maintaining a normal concentration of serum calcium in two of the dogs.
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PMID:Primary idiopathic hypoparathyroidism in St. Bernard dogs. 1603 Nov 73

The presence of late-onset hypocalcemia (>3 days of age) associated with hypomagnesemia generates a clinical dilemma. Such a disorder may exist as a result of magnesium deficiency with a secondary hypoparathyroidism, congenital hypoparathyroidism (HPT), phosphorus intoxication, activated mutation of calcium sensing receptor (CASR) or the presence of CASR stimulatory antibodies. In phosphorus intoxication, in contrast to the other reasons, serum PTH level is rather elevated. Calcium and phosphorus compete for intestinal absorption and thus if calcium intake is high then magnesium absorption is reduced and vice versa. Patient's history: 14-year-old boy was admitted to the ward because of tetanic seizure few days before. Severe hypocalcemia (1.49 mmol/L) with hypomagnesemia (13.8 mg/L) as well as metabolic alkalosis pH=7.65) and high phosphorus level (10.5 mg/dL) were noted. The boy was prepubertal, euthyroid and proportionally microsomic. Severely low serum PTH level (2 pg/mL) excluded phosphorus intoxication. Magnesium salts treatment alone (p.o.) was introduced but this treatment did not improve serum magnesium level as well as calcium concentration. Primary magnesium deficiency was excluded and therefore calcium salts supplementation and 1alpha(OH)D3 therapy, typical for HPT, was initiated combined with slow-released magnesium salts. Difficulties in the treatment tended to look for the digestive tract defects and finally, based on endomysial antibodies and duodenal biopsy the coeliac disease was confirmed. With gluten-free diet the significant improvement of calcium-phosphorus parameters has been observed showing that the autoimmune background of hypoparathyroidism is very likely.
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PMID:[Severe hypocalcemia and hypomagnesemia in a 14-year-old boy--difficulties in treatment related to silent coeliac disease]. 1623 74

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

Hypoparathyroidism-retardation-dysmorphism (HRD) or Sanjad-Sakati syndrome (SSS) (OMIM 241410) is a rare autosomal recessive (AR) inherited condition, characterized by congenital hypoparathyroidism (hypoPTH), retardation, seizures, and a typical facial dysmorphism, consisting of prominent forehead, deep-set eyes, and abnormal external ears. This disorder has been mapped to the long arm of chromosome 1 (1q42-q43) and mutations in the gene coding for tubulin-specific chaperone E (TBCE) have been identified as the cause of the disease. Mutations in the same gene were also reported in patients with AR Kenny-Caffey syndrome (KCS). We report on a 41/2-year-old girl with congenital hypoPTH, seizures, developmental delay, and a facial dysmorphism, compatible with HRD syndrome. Mutation analyses revealed no mutations in the TBCE gene. In addition, normal TBCE protein and alpha-tubulin immunostaining were observed in a lymphoblastoid line derived from the patient, excluding the TBCE gene as the causative gene of the syndrome in this patient. A de novo microduplication of probe RP11-262I1 on 4q35 in the proposita was detected by microarray analyses, but this could not be confirmed by additional studies. We review and discuss the clinical findings of our case and those of the other reported cases with SSS and AR KCS. We conclude that a second gene locus for this disorder seems probable and that 4q35 needs further evaluation as a candidate region.
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PMID:Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review. 1721 90

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

Although seizures have been described in hypocalcemia, myoclonus has been rarely reported. We report the first case of a patient with hypocalcemic cortical myoclonus due to hypoparathyroidism following a previous thyroidectomy. The patient was an 84-year-old woman who presented with multifocal myoclonus, which was predominant in the upper extremities, neck, jaw, and facial muscles. Electrophysiological studies revealed enlarged somatosensory evoked potentials, cortical reflexes evoked by peripheral nerve stimulation, and a cerebral potential preceding myoclonic jerks determined by jerk-locked averaging. All these findings were consistent with cortical myoclonus. The myoclonic state disappeared as serum calcium level became normal. Hypocalcemia should be considered in patients who had had a thyroidectomy, even if it was performed more than 10 years previously.
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PMID:Cortical myoclonus due to hypocalcemia 12 years after thyroidectomy. 1664 6

Hypoparathyroidism occurs due to insufficient production of parathyroid hormone to maintain extracellular calcium levels within the normal range. The acute clinical symptoms and signs of hypoparathyroidism are those of hypocalcaemia, ranging from tingling and numbness of limb extremities to intractable seizures. Often seizures are mistaken for epilepsy. Though hypoparathyroidism is not uncommon, the diagnosis is often missed due to its unusual clinical manifestation. This is the first documented report with vitamin D, Parathormone levels and urinary biochemical parameters from India. We present two cases of hypoparathyroidism who presented with seizures along with a short review of literature.
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PMID:Hypoparathyroidism: a rare treatable cause of epilepsy - report of two cases. 1683 12

The value of biochemical tests in treating patients with uncontrolled seizures is unclear. We present the case of an 8-year-old boy with uncontrolled seizures receiving two antiepileptic drugs. He had been diagnosed with recurrent herpes encephalitis and treated with acyclovir 1 year previously. Laboratory blood analyses, performed because of his uncontrolled seizure episodes, revealed hypocalcemia. Hypoparathyroidism was detected with elevated levels of phosphorus and low levels of parathormone. In conclusion, blood tests, especially to measure calcium, in children with uncontrolled seizures are suggested. Hypoparathyroidism causing hypocalcemia, as present here, is not a rare occurrence.
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PMID:Should we routinely perform blood tests in children with uncontrolled seizures? 1700 9

Sanjad-Sakati syndrome (SSS) is a rare genetic disorder characterized by congenital hypoparathyroidism, hypocalcemia and hyperphosphatemia, seizures, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection. It is mainly confined to children in the Middle-East countries. We report the anesthesia management of a 12-year-old boy with SSS for dental treatment, and discuss the anesthesia implications of this disorder.
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PMID:Anesthesia management for the child with Sanjad-Sakati syndrome. 1704 Mar 10

We report a 30-year-old man with temporal lobe epilepsy associated with hypocalcemia due to primary hypoparathyroidism. He had frequent jamais vu since age 14 years, and later developed generalized convulsive seizures. It was initially controlled by phenytoin. The patient also had hypocalcemia due to primary hypoparathyroidism. The presence of jamais vu suggested the seizure focus in the mesial temporal area, being consistent with EEG finding, and it was most likely activated by the associated hypocalcemia. Control of hypoparathyroidism, and furthermore, selection of valproic acid as an antiepileptic drug which did not interfere with calcium metabolism were essential for this particular patient.
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PMID:[A case with temporal lobe epilepsy associated with hypocalcemia due to primary hypoparathyroidism]. 1706 7


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