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Query: UMLS:C1762617 (weakness)
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The objective of this study was to outline the epidemiology of Ciguatera fish poisoning as seen in a general practice serving two industrial seaports in Trinidad and Tobago, in order to highlight the potential public health implications. A retrospective study was undertaken of all the cases of Ciguatera fish poisoning identified between November 1, 1992 and October 31, 1998 in a seaport general practice to identify signs, symptoms and treatment. An investigation of one outbreak was undertaken. Four outbreaks affecting 42 male ship crewmembers were identified. The suspect fish were caught in northern Caribbean waters en route to Trinidad and Tobago. The most common early symptoms were diarrhoea, vomiting, abdominal cramps, pruritus and tiredness. In the third outbreak, dysaesthesia was common. Progression to muscular weakness, ataxic gait, unsteadiness and other neurotoxic signs were seen in moderate to severe disease. Hypotension was an important prognostic sign in the initial case. Treatment was symptomatic and supportive and included vitamins B12 and BCO, folic acid, prostigmine, steroids and antihistamines as indicated. In the investigation of the second outbreak, the relative risk of 'eating fish meat' was 5 (95% CI 1.45, 17.27, p < 0.0001). Abdominal symptoms, pruritus, and muscle weakness with a history of consuming a fish-meal were diagnostic indicators of 'ciguatera fish poisoning.' All cases were industrial ship crewmembers. It is suggested that increased clinician awareness with early and appropriate treatment, and focussed public health intervention may help limit the potential public health impact of ciguatera poisoning in industrial ship crewmembers and other fish-consuming communities in the future.
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PMID:Ciguatera fish poisoning in industrial ship crewmembers: a retrospective study in a seaport general practice in Trinidad and Tobago. 1562 74

The spinal cord, brain, optic nerves and peripheral nerves may be affected by vitamin B12 (cobalamin) deficiency. Deficiency of vitamin B12 also causes megaloblastic anaemia, meaning that the red blood cells are usually larger than normal. In this paper we report a 16-year old girl who was referred to us for the evaluation of mild paraparesis and paresthesias marked by tingling "pins and needles" feelings and general weakness. The patient, her parents and sisters were on a strict vegan diet, which made us believe that vitamin B12 deficiency may be the possible cause of the neurologic clinical manifestations. The serum level of vitamin B12 was low, but there was no macrocytosis in the routine blood examination. The electrophoresis of haemoglobin was pathologic, there was 3.7% of HbA2 and 11.6% of HbF (heterozygous form of beta-thalassaemia). When megaloblastic anaemia occurs in combination with a condition that gives rise to microcytic anaemia, many megaloblastic features may be masked. Instead of being macrocytic, the anaemia could be normocytic or even microcytic. Vitamin B12 deficiency is a diagnosis that must not be overlooked. This case report turns the light on the fact that increased MCV is a hallmark in vitamin B12 deficiency, but it is not an obligatory sign.
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PMID:Masked deficit of vitamin B12 in the patient with heterozygous beta-thalassemia and spastic paraparesis. 1574 9

A 34 years old male, presenting with progressive proximal weakness, with a neurogenic pattern on needle EMG, and a family history suggestive of an autosomal recessive disorder, was found to have additional features of myeloneuropathy and a down beat nystagmus. A low serum vitamin B12 level was found, and on vitamin B12 supplementation there was a partial clinical as well as electrophysiological recovery.
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PMID:Down beat nystagmus in vitamin B 12 deficiency syndrome. 1679 99

A 48-year-old man was referred to our hospital in December, 2005 because of general fatigue, gait disturbance and bradycardia. He had a history of polysurgery due to recurrent ileus and had been treated with home total parenteral nutrition for the short-bowel syndrome since 2003. Clinical findings on admission included marked emaciation and severe weakness of the extremities. Pancytopenia was noted in the peripheral blood. The serum levels of copper and ceruloplasmin were 3 microg/dl and 3 mg/dl, respectively, while Vit. B12 and folate were within the normal range. The bone marrow demonstrated cytoplasmic vacuolation in the myeloid and megakaryocytic series, and sideroblastic changes. No evidence of hematologic malignancies was presented. The diagnosis was copper deficiency and the patient was treated with copper supplementation. Four weeks after copper therapy, the serum level of copper rose to 50 microg/dl and ceruloplasmin to 14 mg/dl. Significant improvements in the hematologic profile, ECG findings and weakness of extremities were noted. Although bicytopenia (anemia and neutropenia) is considered to be a feature of hematologic disorders caused by copper deficiency, the present case showed pancytopenia. The exact mechanism of the unusual association of thrombocytopenia and other abnormalities with copper deficiency remains to be elucidated.
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PMID:[Copper deficiency with pancytopenia, bradycardia and neurologic symptoms]. 1744 78

A 26-year-old patient developed ascending weakness and paresthesias. Megaloblastic anemia and mildly reduced serum vitamin B12 (B12) concentration were noted. Myoclonus-like muscular contractions appeared over four extremities and in the trunk. She admitted inhaling nitrous oxide (N2O) as a euphoriant repeatedly at party. Following parenteral B12 administration, her neurological deficit promptly resolved. This case demonstrated the abuse of N2OI is an important cause of subacute combined degeneration (SCD) of the spinal cord. To our knowledge, this is the first report of involuntary movements in a patient with N2O intoxication. Although the mechanism remains unknown, involuntary movements similar to myoclonus should be considered as one of the extraordinary neurological manifestations of N2O intoxication.
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PMID:Spinal myoclonus in subacute combined degeneration caused by nitrous oxide intoxication. 1768 35

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting both upper and lower motor neurons. Weakness may begin in the legs, hands, proximal arms, or pharynx. The course is relentless and progressive without remissions, relapses, or even stable plateaus. There is no effective drug therapy for ALS, although riluzole has been shown to prolong life in sufferers, without tracheostomy. A vitamin B12 analog, methylcobalamin, has a protective effect on cultured cortical neurons against glutamate-induced cytotoxicity. We have shown the ultra-high-dose methylcobalamin (25 mg/day i.m.) slows down the progressive reduction of the CMAP (compound muscle action potential) amplitudes in ALS in the short term (4 weeks). The latencies of SSR (sympathetic skin response) were shorter after treatment (50 mg/day i.v., 2 weeks). In the long-term effect of methylcobalamin (50 mg/day i.m., twice a week), the survival time (or the period to become respirator-bound) was significantly longer in the treated group than in the untreated. Larger-scale randomized double blind trial was started in Japan in order to evaluate the long-term efficacy and the safety of ultra-high-dose methylcobalamin for sporadic or familial cases of ALS.
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PMID:[Clinical trials of ultra-high-dose methylcobalamin in ALS]. 1796 54

Several forms of genetically defined juvenile amy-otrophic lateral sclerosis (ALS) have now been charac-terized and discussion of these conditions will form the basis for this chapter. ALS2 is an autosomal recessive form of ALS with a juvenile onset and very slow progression that mapped to chromosome 2q33. Nine different mutations have been identified in the ALS2 gene that result in premature stop codons, suggesting a loss of function in the gene product, alsin. The alsin protein is thought to function as a guanine-nucleotide exchange factor for GTPases and may play a role in vesicle transport or membrane trafficking processes. ALS4 is an autosomal dominant form of juvenile onset ALS associated with slow progression, severe muscle weakness and pyramidal signs, in the absence of bulbar and sensory abnormalities. Mutations in the SETX gene cause ALS4, and the SETX gene product senataxin may have DNA and RNA helicase activity and play a role in the regulation of RNA and/or DNA in the cell. A third form of juvenile-onset ALS (ALS5) is associated with slowly progressing lower motor neuron signs (weak-ness and atrophy) initially of the hands and feet, with eventual bulbar involvement. Progressive upper motor neuron disease becomes more obvious with time. ALS5 has been linked to a 6 cM region of chromosome 15q15.1-q21.1, but the causative gene mutation for ALS5 has yet to be identified. The high degree of clin-ical and genetic heterogeneity in the various forms of juvenile ALS can make differential diagnosis difficult, other genetic disorders that must be considered include: spinal muscular atrophy, hereditary spastic paraplegia, SBMA, GM2 gangliosidosis and the hereditary motor neuronopathies/motor forms of Charcot-Marie-Tooth disease. Acquired disorders that must also be consid-ered include heavy metal intoxications (especially lead), multifocal motor neuropathy, paraneoplastic syndromes, vitamin deficiencies (B12) and infections (HTLV-II, HIV and poliomyelitis).
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PMID:Chapter 15 Juvenile amyotrophic lateral sclerosis. 1880

A 27 year-old man who presented to the hospital with progressive lower extremity weakness, developed an acute ST elevation myocardial infarction on his second hospital day. Primary angioplasty to the left anterior descending coronary artery was performed. Due to persistent dyspnea, the patient underwent a diagnostic chest computed tomography which confirmed multiple small pulmonary emboli. Laboratory analysis revealed a megaloblastic anemia with a reduced vitamin B12 level and positive titers for antibodies against intrinsic factor, establishing a diagnosis of pernicious anemia. Screening for hypercoaguable markers documented an isolated severely elevated homocysteine levels (105 mumol/l). No other significant risk factors for coronary artery disease including a family history of premature atherosclerosis were identified. This case illustrates the importance of testing for hyperhomocysteinemia as part of a workup for atherothrombotic disease, especially in patients without other significant risk factors. The severity of hyperhomocysteinemia found in our patient is unusual for patients with vitamin B12 malabsorption and raises the question of whether the widely practiced folic acid fortification in the United States may mask or even worsen vitamin B12 deficiency over time, leading to more severe cases of vitamin B12 deficiency and hyperhomocysteinemia than seen in the past.
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PMID:Acute myocardial infarction and pulmonary embolism in a young man with pernicious anemia-induced severe hyperhomocysteinemia. 1943 95

A patient developed numbness and tingling in distal extremities with subsequent weakness. Evaluation revealed B12 deficiency. She had evidence of myelopathy on imaging studies and polyneuropathy on electrodiagnostic testing. Treatment with B12 caused remittance of symptoms and resolution/improvement of abnormalities found on the imaging and electrodiagnostic studies. This case demonstrates that early intervention with B12 supplementation can cause reversal of both central and peripheral nervous system dysfunction.
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PMID:Recovery of neurologic dysfunction with early intervention of vitamin B12. 2051 8

Vitamin B12 or cyanocobalamin is an important substance that is included in several metabolic pathways. Its deficiency is a common event after bariatric surgery, decreasing the vitamin B12 absorption after almost all of the stomach and duodenum are eliminated from the digestion process. Neurological manifestations of cyanocobalamin deficiency are not uncommon. We report a case of a young woman who developed ataxia, weakness and peripheral neuropathy after bariatric surgery, but with normal value of vitamin B12 dosage. For the diagnosis, it was necessary to dose methylmalonic acid. We discuss the importance of methylmalonic acid dosage after bariatric surgery in patients who present suspect of cyanocobalamin deficiency with normal values of this vitamin and the role of proton pump inhibitor use and vitamin supplementation in patients with early neurological presentation.
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PMID:The importance of methylmalonic acid dosage on the assessment of patients with neurological manifestations following bariatric surgery. 2168 16


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