Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 4 year old girl with mild mental retardation presented with convulsions, coma and hepatomegaly. She died rapidly. The main biochemical findings were hypoglycaemia, metabolic acidosis, generalised aminoaciduria, elevation of the plasma and urine alpha-amino adipic acid, massive urine excretion of glutaric and glutaconic acids with traces of alpha-hydroxyglutaric acid. The diagnosis of glutaric aciduria was confirmed by the low activity of glutaryl CoA dehydrogenase in liver tissue. This diagnosis should be considered in children with progressive neurological disorders (dystonia, choreoathetosis) and in children with an illness similar to Reye's syndrome.
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PMID:[Glutaric aciduria. 1 new case]. 49 39

The clinical spectrum of toxic effects and serum concentrations after ingestion of carbamazepine were studied in 82 pediatric patients. Serum carbamazepine level was related to the depth of coma (p less than 0.001), convulsions (p = 0.002), hypotension (p less than 0.001), and the requirement for mechanical ventilation (p less than 0.001). In 10 patients in deep coma with a Glasgow Coma Scale (GCS) of 3-4, the mean serum level was 213 mumol/L (range 143 to 343); seizures, ventilatory failure, or hypotension caused by myocardial failure and conduction defects were observed. In four of these, large doses of inotropic agents were required, one patient was treated with plasmapheresis, and two died--one of cardiac failure and one of aspiration pneumonitis. In 27 patients with moderate coma (GCS 5-8), the mean serum level of carbamazepine was 112 mumol/L (range 63 to 176); convulsions were observed in two patients in this group. In 45 patients whose conscious state was mildly depressed or normal (GCS 9-15), the mean serum level was 73 mumol/L (range 37 to 128); additional effects were drowsiness (80%), ataxia (53%), nystagmus (38%), vomiting (17%), and dystonia (7%). I conclude that patients with serum carbamazepine levels of approximately 100 mumol/L require close observation, whereas those with levels greater than 150 mumol/L may require intensive life support.
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PMID:Acute toxic reaction to carbamazepine: clinical effects and serum concentrations. 164 Mar 2

The reported cases of betolepsy, namely convulsive fits and syncopal attacks induced by cough were observed in patients suffering from different pulmonary diseases, vegetovascular dystonia, and venous encephalopathy. The extracerebral mechanism occurring by the Valsalva type related to the lowering of cardiac output and blood supply to the brain was assumed to be implicated in the origin of betolepsy. In the described group of the patients with multiple occlusive lesions of the cerebral arteries, the pathogenesis of betolepsy is obviously connected with a decrease of the arteriovenous gradient of cerebral circulation to the level close to the critical one. In this case, enhancement of the cerebral blood flow attained by different approaches including reconstructive operations on cerebral vessels rather than administration of anticonvulsants is an effective means of counteracting betolepsy.
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PMID:[Betolepsy in patients with multiple lesions of major cerebral blood vessels]. 166 74

A patient with choreoathetosis and dystonia who had computerized tomography evidence of basal ganglia damage resulting from tuberculous meningitis is presented. It is important to distinguish these extrapyramidal movements from fits, and the observation of such movements in a clinical setting of meningitis should alert physicians to the diagnosis of tuberculous meningitis.
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PMID:Radiological and clinical features of basal ganglia infarction in tuberculous meningitis. 261 40

Four cases of hypnogenic paroxysmal dystonia are described. The patients (three males and one female), aged between 12 and 39 were subjected to neurological, physical and psychological examination, and routine lab tests and brain CT scan were carried out within normal limits. One of the patients suffered from diurnal epileptic seizures. Repeated EEG recordings during wakefulness were normal. During polysomnographic and TV recordings the patients showed different types of dystonic fits occurring several times a night, always brief, and starting during NREM sleep. Carbamazepine therapy proved to be relatively effective in three subjects.
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PMID:Hypnogenic paroxysmal dystonia: a new type of parasomnia? 339 5

Case report of a 7 1/2-year-old girl considered as being normal until the age of 2 years. From then on she progressed with gait disturbance, mental deterioration, dystonic movements, convulsions and dysarthria. She died of bronchopneumonia one year later. CT scan showed hyperdensity at the putamen, with no signs of cerebral atrophy. Pathological examination disclosed an intense red coloration of the putamen and axonal "spheroids" at electron microscopy.
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PMID:"Hallervorden-Spatz syndrome--infantile neuroaxonal dystrophy" complex. Case report. 340 85

A 21 year old male, well-nourished and non-alcoholic, died after five weeks illness. He had suffered epileptic fits, bilateral internuclear ophthalmoplegia, bulbar and pontine paralysis, tetraparesia, ataxia and dystonia. A CT brain scan showed low density lesions of the striatum bilaterally. Post-mortem studies revealed pathological anomalies compatible with Leigh's disease, although the presence of haemorrhages and involvement of the mamillary bodies could also suggest Wernicke's encephalopathy.
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PMID:Necrotising haemorrhagic encephalomyelopathy in an adult: Leigh's disease. 357 37

This review discusses several aspects of epilepsy and sleep. The level of wakefulness is controlled by transmitters such as acetylcholine, norepinephrine, serotonin, and histamine. These neurotransmitters are involved in modulatory neurotransmission of the ascending brain stem systems, which play an important role in controlling the sleep-wake cycle. Experimental evidence suggests that rapid eye movement sleep atonia is induced by increased endogenous acetylcholine release. Regarding sleep factors, recent data suggest that prolactin may stimulate rapid eye movement sleep and that growth hormone-releasing factor is involved in non-rapid eye movement sleep regulation. The neuropharmacologic features of several animal models of epilepsy have been investigated. Epileptiform discharges of genetic absence seizures in rats have been found to be suppressed by cholinergic drugs. The beta-carboline abecarnil has a strong antiepileptic effect on spike-wave discharges in rats that generate spontaneous spike-wave discharges, and it may be useful as an antiepileptic drug. Sleep epilepsy has been studied in a model of amygdala-kindled kittens. During the postkindling development, multifocal epilepsy with convulsions occurred that were distributed throughout the sleep-wake cycle; this finding agrees with the clinical literature. A typical feature of juvenile myoclonic epilepsy is the occurrence of seizures in a strict relationship to the sleep-wake cycle. There is now some neurophysiologic evidence that this syndrome also causes disturbance of sleep stability with increased arousal reactions. Nocturnal paroxysmal dystonia is not a homogeneous entity. Several clinical reports indicate that the short-lasting variant is most likely a form of frontal lobe epilepsy, but the nature of the longer-lasting variants is still obscure.
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PMID:Epilepsy and sleep. 791 13

A solution containing S-nitroso-N-acetylpenicillamine (SNAP), a nitric oxide (NO.-releasing compound, was microinjected in doses of 0.25-2 mumol into a lateral ventricle of conscious rats. SNAP produced dose-dependent convulsions similar to those associated with limbic stimulation, such as tonic extension of the hindlimbs and tail, and dystonia of the forepaws. At 2 mumol, SNAP evoked hyperventilation (arterial hypocapnia), arterial hyperglycemia and caused necrotic lesions of periventricular gray (e.g. lateral septal nucleus) and white matter structures. In the caudate nucleus and lateral septal nucleus ipsilateral to injection, SNAP elicited a bipolar metabolic pattern of low glucose metabolism proximal to the ventricle with higher values occurring more distally. In control studies, we proved that the residue of SNAP decomposition, N-acetylpenicillamine disulfide injected intraventricularly (2 mumol), was without physiological, behavioral, or histological effects. Ventricular pretreatment with methylene blue (2 nmol), a putative inhibitor of guanylate cyclase and superoxide generator, suppressed several of the behavioral manifestations of 1 mumol SNAP, such as the forepaw dystonia, squinting, and facial clonus, but was ineffective on the physiological and histological variables affected by the 2 mumol SNAP dose. Another NO. donor, sodium nitroprusside (2 mumol), produced fewer behavioral and cytotoxic effects over a 55-min observation period, but caused more intense and widely distributed metabolic stimulation, especially in commissural and projection white matter tracts. The results are the basis for a conscious rat model using intraventricular injection of nitrocompounds to examine the physiological, behavioral, metabolic and cytotoxic properties of NO. in the brain.
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PMID:Neurotoxicity in conscious rats following intraventricular SNAP, a nitric oxide donor. 796 12

According to the record of the Poison Control Centre in Zagreb, drugs most frequently implicated in poisoning episodes were benzodiazepines, neuroleptics, anticonvulsants including barbiturates, fluorides and antidepressants, which comprised more than 40% of all drug poisonings. More than 90% of neuroleptic poisonings were symptomatic on admission, 19% were comatose, 45% were drowsy, in 15% extrapyramidal symptoms were present, and only 9% were without symptoms. Severe poisonings in adults were almost all due to suicidal ingestion, while in children low to moderate doses of different neuroleptics caused severe poisoning in 13 cases, with coma, convulsions and most often with acute dystonic reactions. In 30 cases of neuroleptic ingestion more than one drug was involved. The usual combinations were with other neuroleptic or psychoactive drugs such as benzodiazepines, biperiden, carbamazepin and antidepressants. Therapeutic measures were gastric emptying in 32% of cases, biperiden when dystonia was present but only after consultation with the Centre and with 12-14 hours delay, and supportive treatment in all symptomatic patients.
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PMID:[Acute neuroleptic poisoning]. 864 64


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