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)

A previously healthy woman experienced Adams-Stokes attacks ten weeks after the initiation of antithyroid medication for Graves' disease. The patient manifested advanced atrioventricular (A-V) block requiring a temporary transvenous pacemaker. The site of heart block was localized to the A-V node by utilizing a His bundle electrogram. With control of the hyperthyroid state, normal A-V conduction was restored. Review of the literature identified twenty-five additional cases of second or third degree A-V block associated with Graves' disease, ten of whom had Adams-Stokes syncope or convulsive seizures. The A-V nodal block was reversible with cure of the primary endocrine disease. It is postulated that excessive thyroid hormone has a direct effect on the cardiac conduction system, specifically, the region of the A-V node and bundle of His. Recommendations are made regarding the recognition and management of patients at risk for developing heart block associated with Graves' disease.
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PMID:Second and third degree atrioventricular block with Graves' disease: a case report and review of the literature. 616 53

We reach the conclusion that histidinaemia in the typical form (autosomal recessive impairment of L-histidine ammonia lyase activity (EC4.3.1.3)) is not a 'disease' in man. Retrospective and prospective studies (Rosenmann et al., 1983; Coulombe et al., 1983) together indicate that the prevalence of disadaptive phenotypes (e.g. impaired intellectual or speech development, seizures, behavioural or learning disorder) in the histidinaemia population, is not higher than the frequency of these functional disorders in the non-histidinaemia population. However, one cannot exclude the possibility that histidinaemia is a risk factor for development of an unfavourable CNS phenotype, in particular individuals under specific circumstances (e.g. abnormal perinatal events). From this viewpoint, we propose that newborn screening for early diagnosis and treatment of histidinaemia does not meet the criteria for a public health service. Screening for continuing research on histidinaemia remains justifiable, for example, to discern whether there are atypical forms of the biochemical and enzymatic phenotypes.
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PMID:Histidinaemia. Part I: Reconciling retrospective and prospective findings. 619 84

The study comprises 10 consecutive medicolegal autopsies of patients treated with intraventricular cardiac pacing who died unexpectedly outside of a hospital. The treatment was indicated by AV-block grade I-III in eight cases, by bradyarrhythmia in one case, and sick sinus syndrome in the last case. Four patients died during a sudden epileptiform seizure, three were found dead, and three died in their sleep. Recent hemorrhages close to the AV-node and His bundle were seen in five cases. The local findings in the vicinity of the pacemaker leads were numerous and multiple consisting of thrombosis of the superior vena cava, tortuous and corroded leads, leads attached to the atrial endocardium, constricted orifice of the coronary sinus, and acute ulcerations, endocarditis, shrinking, and ruptures of the cusps of the tricuspid valve. The right atrium of the pacemaker patients was significantly dilated. The mean value of the ratios between right atrial and ventricular length (AV ratio) of the 10 pacemaker patients was 1.2 in contrast to the mean value of the same ratio of 30 controls, which was 0.6. The AV ratio was particularly increased in patients with lesions of the tricuspid valve and with a long history of cardiac pacing. In 3 of the 10 patients the immediate cause of death was related to anatomical and technical complications of long-term intraventricular pacing. Such complications were clinically unrecognized thrombosis of the superior vena cava, rupture of the chordae tendinae, and cable breakage.
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PMID:Postmortem findings and possible causes of unexpected death in patients treated with intraventricular pacing. 619 10

A 2 year-old non-Jewish boy had muscle hypertonia, a black cherry spot, dementia, and seizures. His skin biopsy showed membranous cytoplasmic bodies in axonal terminals and zebra body-like inclusions in Schwann cells. Biochemically, a deficiency of Hex A and two separate Hex B peaks indicated a type 1 (B variant, Tay Sachs) like subvariant of GM2-gangliosidosis.
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PMID:Ultrastructural pathology of skin biopsy and fibroblast enzyme studies in a case of GM2-gangliosidosis with deficient hexosaminidase A and thermolabile hexosaminidase B. 625 71

Forty-two articles published between 1961 and 1977 describing 43 probands and 26 siblings with histidinaemia were used for the retrospective study. Our objective was to describe the apparent impact of the mutation on development and health in human histidinaemia. The findings were similar to those of an earlier survey (Popkin et al., 1974). Most probands (79%) had a disadaptive CNS phenotype (mental retardation, impaired speech, seizures, aberrant behaviour, and/or learning disorder); half the histidinaemic siblings had a similar phenotype. The modal IQ score was 70; age at recognition of symptoms (CNS phenotype) varied from 1 month to 16 y (modal age 2 1/2 y). There was no correlation between blood histidine (reported values) and occurrence of severity of CNS phenotype. Thirty per cent of histidinaemia subjects, for whom the perinatal history was described, had an abnormal experience. Reported cases with the CNS phenotype apparently represent a very small fraction (about 1%) of all subjects with histidinaemia; this implies that the histidinaemia phenotype is not disadaptive in man.
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PMID:Histidinaemia. Part II: Impact; a retrospective study. 641 Jan 18

We describe an 8-year-old child who had had seizures since age 2. Initially, the seizures involved staring and turning the head to the left. Later, his seizures were brief, frequent staring spells. At age 8, an occasional seizure occurred involving back arching, eyelid fluttering, lip smacking, and pulling at clothing. Also at age 8, the seizures became refractory to phenobarbital, phenytoin, ethosuximide, and carbamazepine. Electroencephalogram showed fairly frequent bilaterally synchronous spike- slow-wave discharges. Computerized tomography showed a hypodense lesion in the right frontoparietal region, with a small contrast-enhancing nodule on one side. The lesion was resected at craniotomy and found to be a cystic Grade I astrocytoma. The patient has been seizure-free for the 2 years that have elapsed since the tumor was removed, the last 18 months without anticonvulsants. His EEG is normal. We conclude that the tumor caused his EEG findings and his long-standing absence seizure disorder.
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PMID:Frontoparietal astrocytoma causing absence seizures and bilaterally synchronous epileptiform discharges. 643 52

A 22-month-old child suffered accidental strangulation, which rendered him comatose with intermittent generalized tonic-clonic seizures. His elecroencephalogram (EEG) displayed widespread activity of alpha frequency unreactive to sensory stimuli. Upon clinical recovery, a slower posterior EEG rhythm, attenuated by eye opening, was detected, which was more consistent with the patient's age. This observation is remarkable, because of the rarity of reports of an alpha pattern after cerebral anoxia in young children and the subsequent EEG and clinical evolutions.
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PMID:EEG rhythm of alpha frequency in a 22-month-old child after strangulation. 645 Mar 33

A 2-year-old boy of above-average intelligence experienced seizures, manifested by ticlike turning movements of the head, which were induced consistently by his own singing--not by listening to or imagining music. His seizures were also induced by his recitation and by his use of silly or witty language such as punning. The neurologic examination showed only a right-sided Babinski's sign. Seizure activity on an EEG was present in both temporocentral regions, especially on the right side, and was correlated with clinical attacks. A computed tomographic scan was normal. Phenobarbital therapy did not reduce seizure frequency.
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PMID:Seizures induced by singing and recitation. A unique form of reflex epilepsy in childhood. 647 21

We describe a 29-year-old man with mitochondrial encephalomyopathy. The patient's disorder was characterized by lactic acidosis, hemiparesis, seizures, aphasia, and hemianopia. CT revealed low-density areas that corresponded to the symptoms. His 56-year-old mother is also involved subclinically, demonstrating that muscle biopsy is an important requisite in the final determination of a familial inheritance pattern in mitochondrial myopathy. Neuronal mitochondrial disorders are suggested as the pathogenesis of his neurologic symptoms.
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PMID:Mitochondrial encephalomyopathy: fluctuating symptoms and CT. 649 93

A 43-year-old man suddenly experienced severe headaches and involuntary flexion-extension movements of four limbs, which were followed by hypertonic extension of the limbs lasting for a few hours. Two days later, he experienced generalized tonic seizure without loss of consciousness. After the seizures, he remained hemiparetic on the right side. His past medical history was non-remarkable, and the histories of hypertension, diabetes mellitus, head trauma and significant infectious diseases were all denied. Cerebral angiography performed 22 days after the onset showed a segmental, irregular narrowing of the left A2 segment and an aneurysmal outpouching immediately proximal to the stenosis. CT scan revealed a low density area in the left frontal lobe, corresponding to the territory of the involved left anterior cerebral artery. Cerebral angiography was repeated twice in the succeeding 6 months. Each time, the involved A2 segment showed persistence of narrowing, but its shape showed definite changes with the passage of time. A diagnosis of dissecting aneurysm of the anterior cerebral artery was reached by the characteristic angiographic features, and the patient was treated conservatively. Dissecting aneurysm of the cerebral arteries have been reported much less frequently than those of the aorta or other extracranial arteries. Recently, however, such reports are increasing in number, seemingly due to enhancement of knowledge of typical angiographic features, such as string sign, rosette sign, pearl reaction, double lumen and several others. Most of intracranial dissecting aneurysms involve the middle cerebral artery or vertebral-basilar artery, and the ones involving solely the anterior cerebral artery as in this present case are very rare.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Dissecting aneurysm of the anterior cerebral artery: report of a case]. 650 59


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