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 paper deals with a study of the nervous system in 121 patients with acute poisening with dichlorethane. Among the studied contingent there were 110 males and 11 females. According to the severity of the intoxication the patients were divided into 3 groups: mild--23 cases, moderate--11 cases, severe--87 cases. The following 6 neurological syndromes were distinguished: comatose, convulsive, atactic, extrapyramidal, psychotic and asthenic with vegetative-vascular insufficiency. Morphological studies detected the following: congestion plethora, vascular dystonia, microfoci hemorrhages, acute swelling of the nervous cells with signs of chromatolyses, shrunk cells, severe and ischemic change of the nervous cells. The treatment consisted in an accelerated elimination of dichlorethane from the organism and symptomatic therapy. The results of these studies demonstrated that in poisoning with dichlorethane there were diffuse, mainly dystrophic changes in the cells of the brain and spinal cord, which clinically may be expressed by symptoms of a lesion of many systems and may be qualified as toxic encephalomyelopathy.
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PMID:[Neurologic disorders in acute dichloroethane poisoning]. 66 65

We report six previously healthy children who several days after a prodromal illness had an acute encephalopathy that ran a biphasic course. It appears to constitute a recognizable syndrome with a good prognosis that can be differentiated from other encephalopathies of obscure origin as previously defined by Lyon et al. The active phase was dominated by coma or confusion and by abnormal movements, including disordered gesticulation and attacks of orofacial dyskinesia or limb dystonia associated with permanent rigidity and culminating in opisthotonic posturing. Repeated seizures were observed in only two patients. Permanent slow waves were recorded on the electroencephalogram in all patients, even during bursts of abnormal movements. Cerebrospinal fluid and results of serologic studies were normal throughout the course of the disease, and attempts at viral isolation and antiviral antibody detection yielded negative results. Brain imaging either showed no abnormalities or suggested a moderate degree of brain edema. The recovery phase, which extended for several weeks, was characterized by a rapid return of motor function and persistent behavioral and cognitive disturbances. Nonverbal reasoning recovered long before verbal expression returned to normal. Four patients eventually recovered fully, whereas two had mild sequelae.
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PMID:Coma associated with intense bursts of abnormal movements and long-lasting cognitive disturbances: an acute encephalopathy of obscure origin. 144 43

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

A 43 year-old woman suffered a cardio-circulatory arrest with a post-anoxic coma during 24 hours. This was followed by and akinetic-hypertonic syndrome. There was also dystonia of both hands and of right big toe. After and initial mutism, the patient spoke with dysarthria, a monotonous weak voice of poor timbre and low vocal volume. She had in addition mood disturbances with indifference to her condition and compulsive activity. Extrapyramidal syndromes after ischemic anoxia are rare, when compared to their relative frequency after carbon monoxide poisoning. Early CT scan with contrast can identify symmetrical and bilateral lenticulocaudal high densities and MRI is also useful for the diagnosis.
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PMID:[Extrapyramidal syndrome after cardiocirculatory incompetence]. 274 Jun 88

Immunoreactive vasoactive intestinal peptide (VIP) was measured in lumbar and ventricular cerebrospinal fluid (CSF) from patients with various neurological disorders and in 2 hour aliquots of cisternal fluid removed continuously from rhesus monkeys. Although most of the VIP in concentrated pools of human ventricular fluid and of monkey cisternal fluid co-eluted with synthetic porcine VIP28 on a column of Sephadex G-25 superfine, there was evidence that smaller immunoreactive fragments were also present. A circadian pattern of CSF VIP concentration was observed in 2 of the 3 monkeys studied, with highest levels occurring at night and lowest during the day. Ventricular fluid VIP levels were highest in hydrocephalic children and lowest in patients with multiple sclerosis or epilepsy, while VIP was not detectable in ventricular fluid from patients in coma following a severe head injury. There were no significant differences in VIP concentrations in CSF from patients with dystonia. Parkinson's disease, or Alzheimer's disease, suggesting that VIP containing neurons are not affected in these disorders. Lumbar fluid VIP levels were low in patients undergoing aneurysm surgery. Since VIP is a potent vasodilator, these findings may have important implications in relation to the development of vasospasm following subarachnoid hemorrhage.
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PMID:Vasoactive intestinal peptide in cerebrospinal fluid. 647 66

We report a patient with methylmalonic acidemia who developed an acute extrapyramidal disorder after severe ketoacidosis. The neurologic findings resulted from bilateral destruction of the globus pallidus. A 10-year-old girl was the term product of an uncomplicated pregnancy and delivery. Poor feeding and vomiting were noted after one month. She was hospitalized at 6 months of age with vomiting, coma and tachypnea. Analysis of urinary organic acids revealed a massive amount methylmalonic acid. She was not vitamin B 12-responsive and was maintained on a low-protein diet. At 33 months of age, she was able to walk and speak, but she developed acute severe ketoacidosis. Involuntary movements and spastic paraplegia became evident two days after admission. Subsequently, the patient has had metabolic ketoacidosis once or twice a year. Her intelligence quotient was 47. Neurologic examination revealed spastic paraplegia and generalized hypotonicity with mild dystonia. Some relief from dystonic symptoms has been obtained through the use of L-dopa. A brain CT scan at 5 years of age disclosed bilaterally symmetric lucencies of the globus pallidus. T2-weighted brain MRI at 8 years of age showed bilateral symmetric high intensities of the globus pallidus.
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PMID:[Methylmalonic acidemia with bilateral MRI high intensities of the globus pallidus]. 826 Feb 10

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

We describe a clinical syndrome of delayed dystonia in children subsequent to initial gastrointestinal symptoms and acute noninflammatory encephalopathy. The syndrome was caused by the ingestion of mildewed sugarcane containing the Arthrinium-produced mycotoxin, 3-nitropropionic acid (3-NPA). In the severely affected patients, intoxication usually was heralded by coma, with dystonia appearing 7 to 40 days after recovery from the coma. The dystonia was manifested as choreoathetosis, torsion spasms, or painful paroxysmal spasms of the extremities and was neither progressive nor reversible. CTs of the dystonic patients consistently showed bilateral hypodensities in the lenticular nuclei. The pathogenesis of the selective lenticular lesions induced by 3-NPA is not yet clear.
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PMID:Delayed dystonia with striatal CT lucencies induced by a mycotoxin (3-nitropropionic acid). 884 89

The present study investigates the occurrence of post-traumatic movement disorders in survivors of severe head injury. We studied a series of 398 consecutive patients who were admitted to the hospital with a Glasgow Coma Score of 8 or less after they sustained a head trauma. One hundred thirty-four out of 398 patients (34%) died after they were admitted to the hospital or in the further course. A recent follow-up was obtained in 221 of the 264 remaining patients (84%). Follow-up consisted of a three-level assessment, including questionnaires, telephone interviews, and personal examinations. Fifty out of 221 patients (22.6%) had developed movement disorders secondary to the head trauma, which were transient in 23 patients (10.4%) and persistent in 27 patients (12.2%). Forty-two patients (19%) had tremors, nine (4.1%) had dystonia, and seven (3.2%) had other movement disorders. Twelve patients (5.4%) had disabling low-frequency kinetic tremors (2.5 to 4 Hz) or dystonia, or both. Low-frequency kinetic tremors developed with a latency from 2 weeks to 6 months after trauma, and dystonia with a latency from 2 months to 2 years. When compared with patients without movement disorders, this subgroup was characterized by a different distribution profile of Glasgow Coma Scores with a higher proportion of lower scores on admission (p < 0.05). When we compared the initial CT findings, there were highly significant associations between generalized brain edema and the occurrence of any movement disorders, between generalized brain edema and the occurrence of persistent movement disorders, and between generalized brain edema and the occurrence of kinetic tremors and dystonia. We detected similar associations for focal cerebral lesions, but not for subdural and epidural hematomas. In conclusion, transient or persistent movement disorders are common sequelae in survivors of severe head injury. Disabling movement disorders such as kinetic tremors and dystonia, however, occur only in a small group of patients.
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PMID:Post-traumatic movement disorders in survivors of severe head injury. 896 Jul 32


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