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

Biochemical evidence for hypoparathyroidism and roentgenographic evidence for hyperparathyroidism were present in a 7-year-old girl with seizures and tetany. She was hypocalcemic (4.7 mg/dl), hyperphosphatemic (11 mg/dl), and normomagnesemic, with elevated parathyroid hormone level (2,603 pg/dl and 3,693 pg/dl in immunoassays utilizing two different antisera). Somatic features of pseudohypoparathyroidism were absent. Increased serum alkaline phosphatase activity (335 IU/liter) with evidence of subperiosteal bone resorption suggested parathyroid hormone activity on bone. Intramuscular administration of parathyroid extract caused a rise in serum calcium level (9.6 mg/dl) and a fall in serum phosphorus level (7.9 mg/dl). The serum calcium, phosphorus, and alkaline phosphatase activity became normal during vitamin D therapy. Parathyroid hormone values and bone roentgenograms became normal. With serum calcium and phosphorus levels normal, ethylenediaminetetraacetic acid infusion was followed by an increase in plasma parathyroid hormone level but not in urinary cyclic adenosine monophosphate (AMP) or phosphaturia; in contrast, parathyroid extract induced cyclic AMP excretion and phosphaturia. These results suggest that endogenous parathyroid hormone in this patient affects bone resorption but not renal handling of phosphate. We infer that this represents a defective endogenous parathyroid hormone.
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PMID:Hypo-hyperparathyroidism: evidence for a defective parathyroid hormone. 19 77

Computerized cranial tomograms (CCTs) unexpectedly showed bilateral symmetrical calcifications in the basal ganglia and frontal areas in two unrelated epileptic patients 12 and 13 years of age. The patients presented with a variety of seizures, some with focal features; these seizures were resistant to medication in the first case. Subsequent testing revealed hypocalcemia and other biochemical and radiologic features of pseudohypoparathyroidism, despite absence of the usual phenotypic features, tetanic symptoms, and positive family history. The CCT scan may provide the first clue to an underlying hypocalcemic disorder in an epileptic patient even when the skull X-ray is normal. Early detection of this metabolic condition by CCT scanning allows specific treatment to restore serum calcium levels to normal, which usually eliminates seizures and favors optimal cerebral functioning. Serial CCT scanning also provides a useful means for following the intracerebral calcifications, which remained unchanged after 1 and 2 years of normocalcemia in our 2 patients.
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PMID:Pseudohypoparathyroidism and epilepsy: diagnostic value of computerized cranial tomography. 47 43

The knowledge of the pseudohypoparathyroidism is of great importance since the consequence of inadequate treatment may be serious. The most important features of the pseudohypoparathyroidism are the hypocalcemia and seizures. The following case concerns a patient with pseudohypoparathyroidism; the clinical symptoms and treatment of this disorder will be discussed.
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PMID:[Diagnostic and therapeutic aspects of cerebral seizures caused by pseudohypoparathyroidism]. 130 83

Striopallidodentate calcinosis (Fahr's disease) is characterized clinically by seizures, rigidity, and dementia and pathologically by mineral deposition in the basal ganglia, dentate nucleus, and cerebral cortex. Disorders of iron and calcium-phosphate metabolism are thought to play a role in its pathogenesis. We present the case of a patient with familial striopallidodentate calcinosis who had porphyria cutanea tarda, refractory anemia, and pseudohypoparathyroidism type 2. The serum level of ferritin was markedly increased, serum iron and iron-binding capacity were below normal, and at autopsy she had deposition of iron in liver, spleen, bone marrow, and brain. She showed intermittent mild hypocalcemia, increased serum values of parathyroid hormone, elevated renal tubular reabsorption of phosphate, and low serum levels of 1,25-dihydroxyvitamin D, suggesting blunted renal responsiveness to endogenous parathyroid hormone. Pseudohypoparathyroidism type 2 was confirmed by infusion of synthetic parathyroid hormone, which gave a normal urinary cyclic adenosine monophosphate response, but a blunted phosphaturic response. After splenectomy for hypersplenism and weekly phlebotomies, she showed progressive improvement in function, mental status, weight, and seizure control. The hypothesis advanced is that the underlying pathophysiology of the separate diseases contributed to the formation of the brain stones through mechanisms of defective iron transport and free radical production.
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PMID:Abnormal systemic metabolism of iron, porphyrin, and calcium in Fahr's syndrome. 281 30

Urine sialic acid was measured in 246 patients evaluated for possible neurodegenerative disorders. Total, free, and bound sialic acid excretion declined significantly with patients' ages. Among 11 patients (4.5%) with age-related excretion rates greater than 2 standard deviations above the mean, 5 had the following disorders: free sialic acid storage disease, mucolipidosis type II, pseudohypoparathyroidism, sinus histiocytosis, and probable Sanfilippo syndrome. Although the remaining 6 were undiagnosed, 2 exhibited deteriorating courses and the other 4 presented variable combinations of organomegaly, developmental delay or mental retardation, seizures, facial dysmorphism, or bony abnormalities. Thus, these individuals also may have metabolic disorders with abnormal excretions of sialic acid-containing compounds. With awareness of age-related excretion rates, sialic acid screening is most useful for the sialidoses, mucolipidoses, and disorders of free sialic acid metabolism.
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PMID:Urinary sialic acid screening in neurologic disorders. 350 81

A 14-year-old boy with focal seizures, syncopal attacks, and progressive intellectual deterioration had intracranial calcifications on a CT scan and hypocalcemia unresponsive to parathyroid hormone. The commonly recognized neurological manifestations of pseudohypoparathyroidism were complicated by signs of Friedreich's ataxia. A marked elevation of serum CPK was unexplained and was unrelated to seizures.
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PMID:Friedreich's ataxia forme fruste and elevated creatine phosphokinase in a child with pseudohypoparathyroidism. 737 40

We report three neonates with transient hypoparathyroidism with elevated parathyroid hormone (PTH) levels to clarify further the pathogenesis of late neonatal hypocalcemia and calcium homeostasis. Clinical signs were seizures starting at age of 10 and 11 days. The biochemical features were characterized by transient hypocalcemia and hyperphosphatemia due to a high transport maximum of the phosphate/glomerular filtration rate, despite high PTH levels. All had normal magnesium and calcidiol levels (at least 5 micrograms/l) for their age, and this precludes hypoparathyroidism due to low magnesium levels and hyperparathyroidism due to overt vitamin D deficiency. To diagnose pseudohypoparathyroidism type I, intravenous human PTH (1-34) infusions were performed; however, they showed brisk responses of plasma and/or urine cyclic AMP in response to the PTH infusion, but the phosphaturic response to the PTH was sluggish compared to the controls. All three showed an increase in serum alkaline phosphatase activity, suggesting PTH stimulation of osteoblasts. They were treated initially with calcium lactate or (1 alpha)-hydroxycalciol/calcitriol. Their hypoparathyroid condition, however, was transient; they maintained normal serum calcium and PTH levels without medication before the age of 6 months. The etiology, possibly intracellular signal transduction distal to cyclic AMP and/or distinct from adenylate cyclase in the kidney, is developmental and the condition was resolved completely within 6 months of age. We have termed this condition "transient pseudohypoparathyroidism of the neonate".
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PMID:Transient pseudohypoparathyroidism of the neonate. 765 38

A 30 year-old, mentally retarded female presented with uncontrolled seizures. The diagnosis of pseudohypoparathyroidism was established on grounds of clinical, laboratory and radiological evaluation. Despite normalization of serum calcium levels with vitamin D treatment, the patient continued to suffer from frequent convulsions. The possible pathogenesis of the therapy-resistant seizures and the therapeutic approach are discussed.
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PMID:Therapy-resistant seizures in pseudohypoparathyroidism. A case report. 852 Nov 97

A 16 year old patient with the typical clinical signs of Albright's hereditary dystrophia developed series of epileptic seizures with loss of consciousness, tonic muscle contractions and bite of the tongue. After termination of the seizures there was coma without focal neurological signs. CT scan revealed diffuse brain edema. Electroencephalographic studies showed generalized slowing. In laboratory tests the only abnormalities were marked hypocalcemia (1.15 mmol/l) and hyperphosphatemia. Blood parathyroid hormone (PTH) was elevated. PTH-Test confirmed the diagnosis of pseudohypoparathyroidism. The patient was treated with calcium and 1,25-dihydroxy-cholecalciferol. After few days the severe encephalopathy, CT and electroencephalographic changes were completely reversible. Hereditary disturbances of the parathyroid hormone metabolism are rare diseases. Hypocalcemia must be included into the differential diagnosis of seizures and brain edema to avoid invasive diagnostic and irrational treatment.
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PMID:[Acute reversible encephalopathy with brain edema and serial seizures in pseudohypoparathyroidism]. 903 61

A formerly healthy 14-year old boy with difficulties at school was admitted after two generalized seizures. Blood samples taken in the emergency room revealed normal serum-values for glucose and magnesium, but low calcium and elevated phosphorus. First evaluations showed normal age-related psychophysical development, serum-PTH was elevated and serum-1,25(OH)2D was normal. A CT-scan disclosed symmetric intracerebral calcifications. Further investigations confirmed the diagnosis of pseudohypoparathyroidism type 1B. Adequate treatment with calcium and calcitriol normalized serum-calcium, phosphorus and serum-PTH. Interestingly, school performance improved, as did personal activity.
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PMID:[Convulsive seizure]. 938 Oct 20


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