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 six dogs with profound hypocalcemia. Muscle tremors, tetany, generalized seizures, ataxia, and behavioral aberrations were the most common clinical signs. Lymphocytic parathyroiditis was found in four of five dogs that were biopsied. The serum concentration of immunoreactive parathyroid hormone was abnormally low in one dog in which it was measured. Treatment with vitamin D and calcium was successful in restoring and maintaining normal concentration of serum calcium in all six dogs. During treatment, large daily doses of vitamin D were required, dose response was unpredictable, serum calcium concentration fluctuated while treatment remained unchanged, and hypercalcemia occurred frequently.
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PMID:Primary hypoparathyroidism in the dog. 735 61

Symmetrical calcification of the basal ganglia was found in 2% of 8000 computerized tomography (CT) scans. Of 19 cases, only 2 were detectable on conventional skull films. The less prominent calcifications were most often found in the region of the pallidum, the knee of the internal capsule. Also, the lesions were generally symmetrical. Thus these factors must be considered basic morphological characteristics of the pathophysiological process. Additional neurological disorders were present in 6 patients. Neurological symptoms in the remaining 13, when present, depended on the extent of the lesion. The most common finding was tremor, although disturbances of fine motor control, transient lateralizing signs, and seizures were also noted. No particular constellation of symptoms or signs permitted accurate clinical localization of the lesions. The patients could be divided into three groups on the basis of clinical findings: (1) young people with marked cerebral calcinosis ('idiopathic' calcification of basal ganglia), (2) patients with hypoparathyroidism, and (3) older patients with relatively little calcification. Most patients with calcific lesions will be included in the third group. Any calcification of basal ganglia detected by CT scans demands careful evaluation of calcium metabolism.
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PMID:[Clinical, endocrinological, and computerized tomography scans for symmetrical calcification of the basal ganglia (author's transl)]. 738 49

In a patient with primary hypoparathyroidism the disease ran for years only generalized convulsions resistant to antiepileptic medication, and was lately complicated by bilateral cataracts. Low serum calcium and elevated serum phosphorus found on occasion of a grand mal status resistant to routine treatment and to intravenous barbiturates revealed the correct diagnosis. The seizures have been suppressed by normalyzing the serum calcium levels. The pathophysiology of convulsive seizures during hypocalcemia is discussed, and the possibility is raised that antiepileptic drugs could have contributed to hypocalcemia through a vitamin D deficiency.
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PMID:[Idiopathic hypoparathyroidism and convulsive seizures]. 746 5

Fahr's disease associates various degrees of neuropsychological impairment and calcium deposits in the basal ganglia. We report 3 cases. The first case was a 54-year-old man with hemichorea of one-year duration. Laboratory results demonstrated idiopathic hypoparathyroidism. In the second case, a 23-year-old man treated for epilepsia for 8 years was hospitalized for subintrant episodes and hemichorea. Dysmorphism and laboratory results led to the diagnosis of pseudo-hypothyroidism. The third case was a 62-year-old woman with generalized seizures of epilepsia and dementia of two-month duration. Physical examination revealed extra-pyramidal rigidity. Hyperparathyroidism due to an adenoma was confirmed histologically. In all three patients, correction of phosphocalcium levels led to clinical improvement, particularly with disappearance of the epileptic seizures and abnormal movements. Clinical expression of Fahr's syndrome varies greatly. Symptoms include psychiatric disorders, epileptic seizures, extra-pyramidal syndrome and various neurological conditions. Diagnosis requires CT brain scan which identifies calcium deposits in the basal ganglia. The main cause is hypoparathyroidism, whether primary or post-operative. Cases due to other causes of dysparathyroidism are rare. The pathophysiology of this condition remains unknown and results of treatment are often unsatisfactory. Since correcting the impaired calcium phosphorus metabolism often leads to considerable improvement, it is essential to systematically search for dysparathyroidism in patients presenting with neuropsychologic manifestations associated with calcifications of the basal ganglia.
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PMID:[Fahr syndrome and dysparathyroidism. 3 cases]. 750 22

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

Forty consecutive patients undergoing thyroid surgery under local anesthesia (LA) by a single surgeon over a 5-year period were included in this retrospective review. In all cases, the indication for LA was patient request. The study included 29 females and 11 males with an average age of 44 years (range 22-66 years). Body habitus was thin in 12.5%, average in 67.5%, and obese in 20%. Operations consisted of 21 unilateral thyroid lobectomies, 3 partial thyroidectomies, 3 subtotal thyroidectomies, and 13 total thyroidectomies. The pathology revealed benign disease in 45% and malignant disease in 55%. All procedures were performed using lidocaine and/or bupivacaine to administer a deep cervical plexus block as well as a field block. Mild additional intraoperative intravenous sedation was provided in most cases. Two patients were converted emergently to general endotracheal anesthesia because of inability to tolerate LA in one and a seizure secondary to intraarterial injection of lidocaine in the other patient. There were no instances of wound infection hemorrhage, recurrent laryngeal nerve injury, or hypoparathyroidism. In conclusion, thyroid surgery in selected patients can be performed safely using LA by experienced surgeons. If patients are carefully prepared preoperatively, LA offers a simple and reasonable alternative to general anesthesia.
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PMID:Thyroid surgery using monitored anesthesia care: an alternative to general anesthesia. 771 8

We report on two adolescents with 22q11 deletion. Their main clinical manifestation was chronic symptomatic hypocalcemia secondary to hypoparathyroidism, together with seizures and cerebral calcifications. Neither congenital cardiac abnormality nor T cell deficiency were detected. The phenotypic manifestations of the observed patients were consistent with velo-cardio-facial syndrome (VCFS). A microdeletion of chromosome region 22q11 has been demonstrated in approximately 90% of DiGeorge syndrome (DGS) patients and in 75% of VCFS patients; the association of the deletion with a wide spectrum of clinical findings suggests the existence of a contiguous gene syndrome. The presence of certain traits of DGS/VCFS should lead to investigations of the parathyroid function and molecular analysis of the 22q11 region hybridization studies.
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PMID:Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions. 774 62

A 34-year-old man with partial DiGeorge syndrome suffered from seizures and mental retardation from the age of three years. He was diagnosed as having primary hypoparathyroidism by the Ellsworth-Howard test at the age of 22. He was also found to have a right aortic arch. Immunological studies revealed the presence of immature T cells (CD 38+, OKT 9+), although the subsets and function of his T cells were almost normal. The facts that the cardiovascular anomaly and immunodeficiency were mild and the hypoparathyroidism was well controlled, may account for his survival to this age.
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PMID:Partial DiGeorge syndrome at the age of thirty-four. 794 42

Six female patients with hypoparathyroidism (2 idiopathic and 4 postoperative cases following total thyroidectomy) were examined with brain CT scans; 4 of them underwent MR exams too. Two patients presented with no symptoms, 4 exhibited extrapyramidal syndrome, tetany, fainting seizures or ischemic attacks and only 2 presented with abnormal calcium-phosphorus balance. CT showed calcifications of the basal nuclei in 5 patients. The caudate nucleus was always affected (100%). The calcifications were in the putamen, globus pallidus and thalamus in 4 cases (80%), in the dentate nuclei, centrum semiovale and cerebral cortex in 2 cases (40%) and in the mesencephalic gray matter in 1 case (20%). In one case only CT failed to detect the abnormalities, which were nevertheless depicted by MRI. In the other 3 patients who underwent MRI, CT findings were confirmed as low-signal areas on SE T1- and T2-weighted MR scans where the calcifications were present, but areas of increased signal intensity were also evident on SE T2-weighted images; in one patient, low-signal areas were surrounded by a ring of increased signal intensity on SE T1-weighted scans. Low-signal areas reflect an early stage of calcium deposition; on the other hand, high-signal areas are probably caused by proteins and mucopolysaccharides or by liquid pools secondary to endothelial membrane incompetence. CT better defined the site and extent of the calcifications which may be found in both idiopathic and postoperative hypoparathyroidism, in symptomatic or asymptomatic patients. On the other hand, MRI seems to be capable of depicting the various stages of calcium deposition on the basis of the presence of reduced or increased SE T2 signal intensity.
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PMID:[Calcification of the basal nuclei in hypoparathyroidism. The computed and magnetic resonance tomographic aspects]. 812 14

We report on a male infant with congenital hypoparathyroidism who developed primary hypothyroidism at 3 months and insulin-dependent diabetes mellitus at 25 months. He had evidence of widespread and progressive neurologic dysfunction characterized by severe developmental delay, blindness, deafness, seizures, atrophy of the cerebellar and frontal lobes, and elevated spinal fluid protein. Also noted were renal hypoplasia, hyporeninemic hypoaldosteronism, chronic anemia, persistent elevation of liver transaminase levels, abnormal intraventricular cardiac conduction, reduction in numbers of helper T-cells, and distinctive facial anomalies. The child died of multiorgan failure at 29 months. A mitochondrial basis for the syndrome was considered but a molecular mechanism has, as yet, not been identified.
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PMID:Multiple endocrinopathies in an infant with fatal neurodegenerative disease. 909 56


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