Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0152025 (polyneuropathy)
 7,862 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A neurological disorder developed after prolonged exposure to nitrous oxide in 15 patients, all but 1 of whom were dentists. 13 patients had abused nitrous oxide to some extent for periods ranging from 3 months to several years, but 2 patients were exposed to nitrous oxide only professionally, by working in poorly ventilated surgeries. Symptoms included early sensory complaints, Lhermitte sign, loss of balance, leg weakness, gait ataxia, impotence, and sphincter disturbances. Neurological examination showed sensorimotor polyneuropathy, often combined with signs of involvement of the posterior and lateral columns of the spinal cord. Electrodiagnostic tests pointed to an axonal polyneuropathy, but other laboratory results were normal, including examination of the spinal fluid. The neurological picture is similar to that of subacute combined degeneration of the spinal cord, and it is possible that nitrous oxide interferes with the action of vitamin B12 in the nervous system.
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PMID:Myeloneuropathy after prolonged exposure to nitrous oxide. 8 36

Dapsone proved to be effective treatment in a patient who suffered from erthema elevatum diutinum. Serious neurological side effects, however, appeared. The basic mechanism appeared to be a distal axonal degeneration of the motor neurons. Sensory conduction studies were normal in five consecutive EMG examinations. A diagnosis of anemia pernicosa was also made bu the blood values returned to normal after starting B12-vitamin therapy. Penicous anemia seemed not be an etiological factor in the polyneuropathy of our patient because we were not able toshow any damage to the sensory axons.
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PMID:Dapsone-induced distal axonal degeneration of the motor neurons. 65 72

This paper describes the progress of two previously reported brothers with familial glucocorticoid deficiency, achalasia of the cardia, and alacrima. In their early 'teens both boys developed polyneuropathy with sensory, motor and autonomic components, Parkinsonism, and signs of both dorsal column and pyramidal tract damage. The older boy also showed signs of dementia. Red cell folate levels were markedly reduced but plasma and CSF folate were normal. Serum B12 and erythrocyte concentrations were at or below the lower limit of normal CSF levels of homovanillic acid and 5-hydroxyindole acetic acid (the major metabolites of dopamine and serotonin in brain) were low, indicating impaired turnover of the two amines within the nervous system. Positron emission photometry scans in the older boy showed low binding of c-methyl-spiperone and reduced uptake of 18-F-L-fluorodopa in the striatum, confirming the impairment in dopamine metabolism and suggesting both reduced synthesis and reduced receptor density. Treatment with L-dopa up to 800 mg/day (along with carbidopa 200 mg/day) corrected the low CSF homovanillic acid levels and produced some improvement in the Parkinsonism but no other obvious clinical benefit. Empirical treatment with hydroxycobalamin (1000 micrograms three times a week) and folinic acid (15 mg/day) was without clinical effect. The cause of the neurological disorder, low red-cell folate concentrations, and amine disturbance remains unknown, as does the pathogenesis of the adrenocortical failure.
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PMID:Familial glucocorticoid deficiency with achalasia of the cardia associated with mixed neuropathy, long-tract degeneration and mild dementia. 153 68

Detailed electrophysiological studies were performed in 4 patients with myeloneuropathy induced by abuse of nitrous oxide for 1 to 4 years. All presented with paresthesias, weakness, and Lhermitte's phenomena, and exhibited signs of sensorimotor polyneuropathy, ataxia, and arreflexia. Two had subnormal serum vitamin B12 levels. Baseline electrophysiologic testing revealed reduced motor unit potentials, prolonged F wave latencies, absent H reflexes, denervation potentials, and delays in motor and sensory conduction. Three had peripheral and nuchal delay after median nerve stimulation. All were reevaluated after 3 to 12 months' abstinence and treatment with vitamin B12, and all showed substantial clinical improvement. Parallel improvement in electrophysiologic findings occurred, but residual minor conduction delays, loss of H reflexes, electromyographic evidence of denervation, or abnormalities of posterior tibial SEP were noted. These findings confirm the reversibility of myeloneuropathy of nitrous oxide abuse and describe the profile of electrophysiologic recovery in subjects who abstain from further neurotoxic exposure.
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PMID:Reversible myeloneuropathy of nitrous oxide abuse: serial electrophysiological studies. 199 94

This case report concerns a patient with a vitamin B12 deficiency and a normal Schilling test, who had macrocytosis of many years' duration and finally polyneuropathy. All known causes of a vitamin B12 deficiency were excluded. When the Schilling test was performed with egg consumption, excretion of vitamin B12 was clearly diminished. It appears highly likely that this vitamin B12 deficiency developed as a result of malabsorption of protein-bound vitamin B12.
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PMID:[Macrocytosis, polyneuropathy and posterior column disorders caused by malabsorption of protein-bound vitamin B12]. 215 68

Sibling cases of familial vitamin E deficiency accompanied by ataxia, polyneuropathy and mental retardation were reported. Case 1 was a 37-year-old male who developed progressive gait disturbance, deformity of the feet and head tremor from childhood, after normal delivery and development of early childhood. On physical examination, he had cataract, high arched palate and pes cavus. Neurological examination revealed mental retardation (WAIS 68), scanning speech, muscular atrophy of the face and extremities with predominance in the lower limbs, absent Achilles tendon reflex, disturbance of superficial and deep sensation predominant in distal limbs, and marked gait ataxia. Ataxia was both cerebellar and sensory in nature. Laboratory data of the blood showed no significant abnormalities including blood glucose and vitamin B12 except a markedly low level of serum vitamin E. The brain CT scan revealed severe cerebellar atrophy and marked dilatation of the cisterna magna and the subarachnoid space around the cerebellum. Motor nerve conduction velocity in the leg was decreased. Biopsy specimen from the quadriceps muscle showed neurogenic atrophy. Sural nerve biopsy revealed decrease in large myelinated fibers with axonal degeneration and regeneration. Oral administration of alpha-tocopherol acetate, 600 mg per day, diminished ataxia significantly. Based on lysosomal enzyme activity in leukocytes, clinical and laboratory examination, lipidosis or spinocerebellar degeneration was excluded. Chronic lipid malabsorption or beta lipoprotein deficiency which can cause decrease in vitamin E absorption, was not recognized. On oral loading with 2 g of alpha-tocopherol acetate, the decrease rate of serum vitamin E was normal. Consequently the low vitamin E was considered to have resulted from selective impairment of vitamin E absorption.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Familial idiopathic vitamin E deficiency associated with cerebellar atrophy]. 226 7

A case of 78-year old man with megaloblastic anemia occurring 20 years after partial gastrectomy is reported. Since about 2 years earlier he had an episode of convulsion, and he had been on anti-convulsants (diphenylhydantion, phenobarbital) until admission. Physical examination revealed a pale lean man with polyneuropathy and mental impairment. Laboratory findings revealed WBC 3100/microliters, RBC 187 X 10(4)/microliters, HB 7.9 g/dl, MCV 124.4 microns3, MCH 42.7 micrograms, platelet counts 15.7 X 10(4)/microliters, serum vitamin B12 (VB12) 380 pg/ml, and serum folic acid 5.1 ng/ml. Serum autoantibodies to intrinsic factor (IF) and parietal cells were positive. Bone marrow examination revealed erythroid hyperplasia and megaloblastic changes. Schilling test revealed impaired absorption of VB12 with or without IF, but X-ray study of the small bowels was unremarkable. Treatment with intramuscular cyanocobalamin resulted in a rapid clinical improvement. A repeat Schilling test after 4 months of therapy showed a normal VB12 absorption in the presence of IF. These findings suggest that VB12 malabsorption of the 1st Schilling test was due to intestinal dysfunction caused by the VB12 deficiency state itself, and the improvement of VB12 absorption with IF after therapy suggests a pathogenesis similar to pernicious anemia in this patient.
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PMID:[Postgastrectomy megaloblastic anemia--possible participation of anti-intrinsic factor antibody in its pathogenesis--report of a case]. 236 43

A 34-year old woman developed megaloblastic anemia and peripheral polyneuropathy following the use of oral contraceptives (OCs) for 4 years. Low levels of folic acid and vitamin B12 were found. Both the complete recovery after therapy with the vitamins and the absence of other causes of vitamin B12 and folate deficiency suggest that these were caused by OCs and resulted in the rare combination of megaloblastic anemia and polyneuropathy. The poor response to vitamin B12 alone, and the development of anemia and polyneuropathy 4 months after cessation of vitamin B12 therapy suggest that folate deficiency was the primary problem.
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PMID:Folic acid deficiency, megaloblastic anemia and peripheral polyneuropathy due to oral contraceptives. 254 Jan 15

A 65-year-old woman had chronic myelomonocytic leukemia with peripheral neuropathy and IgA paraprotein with kappa type light chain. Plasma cells with "flaming" cytoplasma were seen in the bone marrow specimens. The findings suggest that chronic myelomonocytic leukemia may involve B-lymphocytes in the proliferative process and that it may be a clonal disease. Moreover, this case was associated with peripheral sensori-motor polyneuropathy. The disorder was responsive to prednisolone, as oral administration of prednisolone improved not only the peripheral polyneuropathy, but also the hematological findings. Serum vitamin B12 and lysozyme in the serum and urine were decreased by the steroid therapy. The administration of prednisolone is effective not only for polyneuropathy but also chronic myelomonocytic leukemia.
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PMID:Chronic myelomonocytic leukemia with polyneuropathy and IgA-paraprotein. 256 Dec 95

We present a case of a 56 year old woman who, in consequence of repeated surgical resections of the small bowel, developed a slowly progressive and mainly motor polyneuropathy affecting the lower limbs. The polyneuropathy due to a combined deficiency of vitamin B12 and folate, was associated with intellectual deterioration, involving especially the mnesic functions. Light microscopy and ultrastructural study of sural nerve revealed: marked reduction of every order of myelinated fibers: aspects of wallerian-like myelin degeneration; various stages of myelin leaflet delamination into the cytoplasm of Schwann cells and/or macrophages; lack of alterations attributable to a primary axonal degeneration. The morphological results suggest a primary demyelination, followed secondarily by either axonal changes or some aspects of wallerian-like degeneration.
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PMID:Dementia-peripheral neuropathy during combined deficiency of vitamin B12 and folate. Light microscopy and ultrastructural study of sural nerve. 302 96


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