Cases reported "Neuromuscular Diseases"

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1/145. Alternate four-point sweep-through gait--a technique for patients with combined neuromuscular and visual impairments: case reports.

    This article reports on two patients with combined neuromuscular and visual impairments who used a modification of the classic alternate four-point crutch gait, which allowed them to simultaneously explore the upcoming environment for obstacles or change in terrain while maintaining sufficient support for their lower limbs. The technique should be useful for patients with diabetic neuropathy/retinopathy combinations, multiple sclerosis with optic neuritis, and neurosarcoidosis and in elderly patients with multiple disabilities.
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keywords = neuropathy
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2/145. A case of McLeod syndrome with chronic renal failure.

    A 50-year-old man with the rare McLeod syndrome, associated with glomerular lesion to the end stage of chronic renal failure and death, is reported. McLeod syndrome is an X-linked recessive disorder on the basis of abnormal expression of the Kell blood group antigens and absence of erythrocyte surface Kx antigen. Most often the clinical and pathological findings are retinitis pigmentosa to blindness, progressive chronic neuropathy, cortical atrophy, dilated cardiomyopathy, and glomerular lesion with chronic renal failure. Among the laboratory parameters the most important are very low level of cholesterol and triglycerides, then various numbers of acanthocytes in peripheral blood smears and sometimes in urine (as in our case).
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3/145. Autonomic failure and proximal skeletal myopathy in a patient with primary Sjogren syndrome.

    Autonomic failure and proximal skeletal myopathy are rare features of the Sjogren syndrome (SS). We describe a 51-year-old woman with primary SS who had development of esophageal dysmotility, urinary retention, severe orthostatism, and skeletal myopathy during a 3-month period after the diagnosis of SS. Her symptoms and signs responded well to corticosteroid therapy. Although dysfunction of the peripheral nervous system has a prevalence rate of 20% in patients with SS, most commonly the nerve dysfunction is a sensory deficit, and autonomic neuropathy is less frequent. Autonomic neuropathy due to SS may be underreported. The cause of our patient's myopathy remains undetermined. We speculate that the myopathy was due to either a form of polymyositis or an immune-mediated neuropathy with muscle involvement.
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ranking = 3
keywords = neuropathy
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4/145. Hereditary neuropathy and vocal cord paralysis in a man with childhood diphtheria.

    We present the case of a 37-year-old Afghani man with a history of childhood diphtheria, who was diagnosed with bilateral vocal cord paralysis at age 15 years. At about this time he developed progressive muscular wasting and distally predominant weakness, and subsequently developed respiratory insufficiency, necessitating nocturnal ventilatory support. His examination suggested a distal symmetric sensorimotor neuropathy, and his brother was similarly affected, although to a lesser degree. electromyography (EMG) and nerve conduction studies revealed this process to be purely axonal. A diagnosis of possible hereditary motor and sensory neuropathy (HMSN) type IIc, hereditary axonal polyneuropathy with vocal cord paralysis, is proposed, although the question of early diphtheritic involvement of the vocal cords and peripheral nerves is also considered.
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keywords = neuropathy
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5/145. Hereditary motor and sensory neuropathy type II (HMSN-II) and neurogenic muscle hypertrophy: a case report and literature review.

    We present two siblings affected by hereditary motor and sensory type II neuropathy (HMSN-II) with neuromyotonia, and associated with muscle hypertrophy of the thighs and calves in one. We review the literature about the association between HMSN-II, neuromyotonia and muscle hypertrophy. Muscle enlargement in HMSN-II is rare and may be sporadic or under genetic control. In our patient, muscle hypertrophy was sporadic and probably due to neuromyotonia. The relationship between muscle hypertrophy and neuromyotonia can be deduced by the fact that both conditions were reduced after diphenylhydantoin treatment (200 mg/day).
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ranking = 5
keywords = neuropathy
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6/145. Mononeuropathy of the deep palmar branch of the ulnar nerve. A case occurring in a diabetic woman.

    A diabetic woman developed mononeuropathy of the deep palmar branch of the ulnar nerve six months following repetitive palmar trauma. The illness was initially incorrectly diagnosed as motor neuron disease, emphasizing the importance of accurate diagnosis of diseases that cause wasting of intrinslc muscles in the hand.
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keywords = neuropathy
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7/145. critical illness neuromuscular disease: clinical, electrophysiological, and prognostic aspects.

    BACKGROUND: critical illness neuromuscular disease, which has been recognised as a distinct clinical entity in adults, remains poorly described in children. AIMS: To assess retrospectively the clinical, electrophysiological, and prognostic features of the disease. methods: Retrospective study in a children's university hospital. RESULTS: Five critically ill patients presented with generalised paralysis, associated with long lasting failure to breathe in three. The cause of the generalised paralysis was critical illness neuropathy in two, acute myopathy in two, and mixed neuromyopathy in one. CONCLUSIONS: Neuromuscular disease should be suspected in critically ill children with muscle weakness. Because corticosteroids and muscle relaxants appear to trigger some types of intensive care unit neuromuscular disease in children, their use should be restricted or administered at the lowest doses possible.
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ranking = 1
keywords = neuropathy
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8/145. Resection of the hook of the hamate. Its place in the treatment of median and ulnar nerve entrapment in the hand.

    Poor results can be anticipated with conventional surgical decompression of nerves entrapped within the hand in (1) those with underlying systemic disease causing primary neuropathy, (2) those with combined median and ulnar nerve palsies, and (3) those who have been previously operated upon for nerve entrapment within the hand. Eighteen patients belonging in these categories were surgically treated by resection of the hook of the hamate and (in some) by intraneural neurolysis. Using this technique, we have decreased our failure rate from 20 percent to less than one percent. We believe that failures can be eliminated if the patients destined to have poor results from the usual treatment are identified preoperatively and a more aggressive surgical decompression is used on this "at risk" group.
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keywords = neuropathy
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9/145. colchicine myoneuropathy in a renal transplant patient.

    colchicine is widely employed for the treatment of gout in renal transplant patients where NSAIDs are contra-indicated and allopurinol prophylaxis is often avoided due to concomitant azathioprine immunosuppression. We report here a case of colchicine-induced myoneuropathy in a renal transplant recipient. Our patient had myalgia, muscle weakness, elevated creatine kinase levels, myopathic changes on electromyography and peripheral neuropathy. Withdrawal of colchicine resulted in recovery within 4 weeks. Renal transplant recipients are likely to be at greater risk of colchicine-induced myoneuropathy due to the unique concurrence of risk factors predisposing to toxicity in such patients. These risk factors include the high incidence of gout in this population, widespread use of colchicine as first-line therapy, impaired renal function and concomitant cyclosporin treatment. The diagnosis should be considered in any renal transplant recipient receiving the drug who develops myopathy. Prompt withdrawal of colchicine therapy should result in rapid clinical and biochemical improvement.
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ranking = 7
keywords = neuropathy
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10/145. colchicine neuromyopathy: a report of six cases.

    colchicine has been in use for therapeutic purposes for many years. It can, however, cause subacute onset muscle and peripheral nerve toxicity in patients with chronic renal failure. In this report we describe 6 patients who developed neuromyopathy after the administration of colchicine. All patients presented with proximal muscle weakness, elevated serum creatine kinase (CK) levels, and neuropathy and/or myopathy on electromyography (EMG). The diagnosis of colchicine toxicity was confirmed in all cases by the normalization of CK levels and EMG after discontinuation of the drug. Toxicity developed in 4 renal failure patients on therapeutic doses of the drug, while one patient took a massive dose for suicidal reasons, and the other was on high-dose therapy. patients using colchicine--especially those with renal failure--should be warned about the side effects of the drug and physicians should be careful in the administration of the drug.
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keywords = neuropathy
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