Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two children and 29 of 31 crew members aboard a grain freighter became acutely ill after inhaling the toxic fumigant phosphine; one child died. Predominant symptoms were headache, fatigue, nausea, vomiting, cough, and shortness of breath. Abnormal physical findings included jaundice, paresthesias, ataxia, intention tremor, and diplopia. Focal myocardial infiltration with necrosis, pulmonary edema, and widespread small-vessel injury were found at postmortem examination of the dead child. The surviving child showed ECG and echocardiographic evidence of myocardial injury and transient elevation of the MB fraction of serum creatinine phosphokinase. Illness was significantly associated with living or working amidships or on the forward deck areas of the vessel. Phosphine gas was found to have escaped from the holds through a cable housing located near the midships ventilation intake and around hatch covers on the forward deck. The outbreak illustrates the hazards associated with shipboard fumigation.
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PMID:Acute phosphine poisoning aboard a grain freighter. Epidemiologic, clinical, and pathological findings. 738 74

A Danish pedigree with olivo-ponto-cerebellar ataxia, transmitted as an autosomal dominant trait through six generations, has been studied. Forty-nine individuals were affected, and the main signs were staggering, ataxic gait, dysmetria and dysarthria. Early symptoms were always imbalance and clumsiness. Clinical features varied greatly, and many types of heredo-familial ataxia had previously been assigned to the family members. Ten had been diagnosed as having multiple sclerosis (MS), although symptoms typical of MS, such as paresthesias, mental disturbances and optic atrophy were extremely uncommon. The variations in the clinical picture show that the manifestations of a single dominant gene may appear to mimic different clinical entities unless the genetic evidence is taken into account.
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PMID:Hereditary ataxia in a large Danish pedigree. 739 10

A man with a subclinical cobalamin deficiency developed syncope, vertigo, paresthesias, and ataxia after two exposures to nitrous oxide anesthesia. Patients with unrecognized cobalamin deficiency may be particularly susceptible to brief exposures to nitrous oxide, which inactivates the cobalamin-dependent enzyme methionine synthase and may cause a myeloneuropathy. Clinicians should consider this entity when confronted with patients with neuropathic symptoms after surgical or dental procedures.
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PMID:'Anesthesia paresthetica': nitrous oxide-induced cobalamin deficiency. 764 61

A 37-year-old female physician was admitted to the hospital with severe headache, facial and hand paresthesias, dysarthria, and ataxia. Neurologic examination disclosed signs of brain stem dysfunction. There was rapid neurologic deterioration, and she died in 28 hours. Postmortem studies showed the characteristic features of acute hemorrhagic leukoencephalitis.
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PMID:Acute hemorrhagic leukoencephalitis: a cause of acute brainstem dysfunction. 805 3

The authors report a case of dumbbell-shaped hypoglossal neurinoma. A 46-year-old female was admitted to our clinic with a history of right hemiatrophy of the tongue for more than 10 years and bilateral paresthesia on the face and legs for half a year. Neurological findings on admission were right hypoglossal palsy, attenuation of right gag and palatal reflex, mild truncal ataxia, right Bruns nystagmus, bilateral paresthesia on the face and legs (left > right), bilateral hyper-reflexia on the extremities. No sign of increased intracranial pressure was noted. Conventional computed tomography demonstrated the bone destruction around the right hypoglossal canal, and three-demensional computed tomography clearly revealed the extent of the bone destruction. Magnetic resonance imaging showed a large dumbbell-shaped mass extending both intra-and extra-cranially through the right hypoglossal canal, which severely compressed the brainstem postero-medially. Right suboccipital craniotomy with C1 laminectomy was performed in the prone position, and the occipital bone was drilled far-laterally around the Foramen Magnum with right occipital condyle rongeured to expose the intracanallicular mass. The mass was totally removed except around the IX Xth cranial nerves near the jugular foramen. Hypoglossal neurinoma is rare, and our case is the 62nd case, and the 15th dumbbell-shaped case in the literature. Hypoglossal nerve palsy is characteristic in dumbbell-shaped hypoglossal neurinoma. Enlargement of the hypoglossal canal can be detected by conventional and three-dimensional CT. MRI is more effective than CT in revealing the mass. Total removal of the dumbbell-shaped tumor requires that the hypoglossal canal can be exposed sufficiently.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of dumbbell-shaped hypoglossal neurinoma]. 807 37

A case in which SPECT brain imaging was used in the diagnosis and treatment of chronic effects from acute acetylcholinesterase inhibitor poisoning is presented. The patient was exposed to an insecticide mixture containing phosphorothiate, pyrethrin, piperonyl butoxide, and petroleum distillates, which produced symptoms consistent with acute acetylcholinesterase inhibitor poisoning as well as an upper respiratory tract irritant. Delayed sequelae of gross neurologic symptoms followed, that is, coarse tremor, intermittent hemiballistic movements of the right arm and leg, flaccid muscular tone, fasciculations of muscle groups, muscle cramps, and sensory disturbances. A brain single-photon emission computerized tomography (SPECT) scan was performed 34 mo postexposure, revealing significantly decreased blood flow to the left temporal lobe and to the right and left basal ganglia. The patient's paresthesias were treated with phenytoin, which resulted in worsening of her movement disorder. A trial of amantadine and selegiline (Deprenyl) resulted in a dramatic reduction in dysfunctional movements and ataxia. Post amantadine and selegiline therapy, brain SPECT images revealed significantly improved blood flow with minimally decreased blood flow to the right and left basal ganglia. The use of SPECT scan techniques helped to elucidate objective chronic central nervous system effects subsequent to an acute insecticide exposure and also assisted in the evaluation of the effectiveness of therapeutic intervention.
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PMID:Evaluation of chronic neurological sequelae after acute pesticide exposure using SPECT brain scans. 812 50

Pure sensory neuropathies are clinically characterized by paresthesias, sensory ataxia and areflexia without muscle weakness. We report the case of a 21 years-old female patient with acute onset of distal paresthesias, marked sensory ataxia and hyporeflexia. Motor strength was normal. Sensory nerve conduction was absent and motor nerve conduction slightly decreased. CSF showed 2 leucocytes/mm3 and 1.06 g/dL protein. Collagen disorder and neoplasia were not found. Type 2 fiber atrophy was observed on muscle biopsy, and axonal demyelination on sural nerve biopsy. The patient was treated with prednisone. After 1.5 years she was recovered, but a minor proprioceptive deficit persisted. A revision is made on the etiology, pathophysiology and clinical manifestations of the disease.
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PMID:[Acute idiopathic sensory neuropathy: a case report]. 829 47

In the past, methylmercury compounds were manufactured as fungicides or appeared as unwanted byproducts of the chemical industry, but today the methylation of inorganic mercury in aquatic sediments and soils is the predominant if not the sole source of methylmercury. This form of mercury is bioaccumulated to a high degree in aquatic food chains to attain its highest concentrations in edible tissues in long-lived predatory fish living in both fresh and ocean waters. It is well absorbed from the diet and distributes within a few days to all tissues in the body. It crosses without hindrance the blood-brain and placental barriers to reach its principal target tissue, the brain. It is eliminated chiefly in the feces after conversion to inorganic mercury. The biological half-time of methylmercury in human tissues is about 50 days, but there is wide individual variation. Adult poisoning is characterized by focal damage to discrete anatomical areas of the brain such as the visual cortex and granule layer of the cerebellum. A latent period of weeks or months may ensue before the appearance of signs and symptoms of poisoning. The latter manifest themselves as paresthesia, ataxia, constriction of the visual fields, and hearing loss. The prenatal period is the most sensitive stage of the life cycle to methylmercury. Prenatally poisoned infants exhibit a range of effects from severe cerebral palsy to subtle developmental delays. Methylmercury is believed to inhibit those processes in the brain specially involved in development and growth such as neuronal cell division and migration.
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PMID:Mercury: major issues in environmental health. 835 79

Since the discovery of the biologically active platinum complexes 30 years ago, 2 agents have become widely established in clinical oncology practice. Both cisplatin and carboplatin are platinum(II) complexes with 2 ammonia groups in the cis- position. However, they differ in their solubility, chemical reactivity, dichloride or alicyclic oxygenated leaving groups, pharmacokinetics and toxicology. Cisplatin causes severe renal tubular damage and reduces glomerular filtration, and requires concurrent saline hydration and mannitol diuresis to eliminate potentially lethal and unacceptable damage to the kidneys. Carboplatin, at conventional doses, causes no decrease in glomerular filtration and only minor transient elevations in urinary enzymes. Cisplatin is the most emetic cancer drug in common use, while nausea and vomiting associated with carboplatin are moderately severe. Serotonin release from enterochromaffin gut mucosal cells and stimulation of serotonin 5-HT3-receptors mediates acute emesis. Selective inhibitors of the 5-HT3-receptor protect against cisplatin- and carboplatin-induced nausea and vomiting. Peripheral neurotoxicity is the most dose-limiting problem associated with cisplatin. Loss of vibration sense, paraesthesia and sensory ataxia comes on after several treatment cycles. Carboplatin, however, is relatively free from peripheral neurotoxicity. Audiometry shows cisplatin-induced ototoxicity in 75 to 100% of patients, which may be associated with tinnitus and hearing loss. Ototoxicity is rare with conventional dose carboplatin therapy. Monitoring hearing with audiograms may identify early signs before significant impairment occurs. Cisplatin causes mild haematological toxicity to all 3 blood lineages. Haematological toxicity is dose-limiting for carboplatin, with thrombocytopenia being a greater problem than leucopenia. Although carboplatin is not toxic to the kidney, renal function markedly affects the severity of carboplatin-induced thrombocytopenia. The major clearance mechanism of cisplatin is irreversible binding in plasma and tissues, while carboplatin is cleared by glomerular filtration. Metabolism of cisplatin to aqua, amino acid and protein species is extensive, whereas carboplatin exists mainly as the free unchanged form. Strong relationships between carboplatin renal clearance, glomerular filtration rate, area under the plasma concentration-time curve (AUC) of filterable platinum and severity of thrombocytopenia have prompted dose adjustment according to renal function. New analogues such as JM216 offer the potential advantages of oral administration and few nonhaematological toxicities. Analogues based on the diaminocyclohexane ligand have encountered problematic neurotoxicity.
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PMID:Comparative adverse effect profiles of platinum drugs. 857 96

We describe the clinical details of 20 elderly patients with idiopathic small fiber neuropathy. This neuropathy is ubiquitous in practice but has not been well characterized. The clinical syndrome is relatively stereotyped and appears to be a frequent cause of burning feet in the elderly. The main features were burning, painful paresthesias and dysesthesias in the feet, lancinating pains, moderate to severe distal small fiber sensory loss, absent ankle reflexes, and minimal or no distal foot weakness. All but 2 had mild loss of vibration sense but none had significant proprioceptive loss or sensory ataxia. EMG was normal in 9 while the others had a mild sensorimotor axonal neuropathy. Sural nerve biopsy was normal in 3 and showed axonal loss in 6. Progression was slow, and although pain was a troublesome symptom, no patient became disabled. Symptoms were refractory to most symptomatic therapies but several patients improved with gammaglobulin infusions.
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PMID:Idiopathic distal small fiber neuropathy. 861 Apr 90


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