1/308. Cervicomedullary astrocytoma simulating a neuromuscular disorder.A 12-year-old male developed progressive proximal upper extremity weakness over a 3- to 4-year period. The clinical findings of proximal upper extremity weakness and atrophy, prominent scapular winging, and no sensory deficits or upper motor neuron signs suggested a neuromuscular disorder. electromyography was consistent with a chronic denervating disorder involving the upper cervical anterior horn cells or their axons. A cervical magnetic resonance image revealed a large intramedullary mass extending from the inferior aspect of the fourth ventricle down to the level of T2. A biopsy of the lesion was consistent with a low-grade astrocytoma.- - - - - - - - - - ranking = 1keywords = atrophy (Clic here for more details about this article) |
2/308. An uncommon mechanism of brachial plexus injury. A case report.PURPOSE: To report a case of brachial plexus injury occurring on the contralateral side in a patient undergoing surgery for acoustic neuroma through translabrynthine approach. CLINICAL FEATURES: A 51-yr-old woman underwent surgery for acoustic neuroma through translabrynthine approach in the left retroauricular area. She had a short neck with a BMI of 32. Under anesthesia, she was placed in supine position with Sugita pins for head fixation. The head was turned 45 degrees to the right side and the neck was slightly flexed for access to the left retroauricular area, with both arms tucked by the side of the body. Postoperatively, she developed weakness in the right upper extremity comparable with palsy of the upper trunk of the brachial plexus. hematoma at the right internal jugular vein cannulation site was ruled out by CAT scan and MRI. The only remarkable finding was considerable swelling of the right sternocleidomastoid and scalene muscle group, with some retropharyngeal edema. An EMG confirmed neuropraxia of the upper trunk of brachial plexus. She made a complete recovery of sensory and motor power in the affected limb over the next three months with conservative treatment and physiotherapy. CONCLUSIONS: brachial plexus injury is still seen during anesthesia despite the awareness about its etiology. Malpositioning of the neck during prolonged surgery could lead to compression of scalene muscles and venous drainage impedance. The resultant swelling in the structures surrounding the brachial plexus may result in a severe compression.- - - - - - - - - - ranking = 14.40609457534keywords = muscle (Clic here for more details about this article) |
3/308. The exercise test in andersen syndrome.BACKGROUND: andersen syndrome is a rare form of periodic paralysis (PP) associated with dysmorphic features and potentially fatal cardiac dysrhythmias. To date, no electrodiagnostic abnormalities have been reported that can be used to confirm the presence of PP in this condition. OBJECTIVES: To determine if the exercise test could be used to confirm the diagnosis of PP in andersen syndrome. To evaluate the exercise test as a means to assess neuromuscular status during treatment. methods: We performed the exercise test on 2 patients with andersen syndrome. In 1 patient, we used a modified version of the test to document responsiveness to treatment with tocainide. RESULTS: Studies in both patients demonstrated a progressive decline in the compound muscle action potential amplitude after exercise that was characteristic of the phenomenon seen in other forms of PP. In 1 patient, improvement in interattack strength and a reduction in the number of attacks of weakness correlated with improvement in the test results. CONCLUSIONS: Our cases demonstrate that the exercise test can confirm the diagnosis of PP in andersen syndrome. A modified version of exercise testing may also be considered as an objective method for documenting treatment responses in PP.- - - - - - - - - - ranking = 7.2030472876701keywords = muscle (Clic here for more details about this article) |
4/308. Autosomal dominant distal myopathy not linked to the known distal myopathy loci.The distal myopathies are clinically, pathologically and genetically heterogenous. Thus far, seven types of distal myopathy have been linked to four chromosome loci. We recently examined four affected members from three generations of an autosomal dominant distal myopathy kindred. A muscle biopsy was performed on the index case. Muscle histopathology showed non-specific myopathic findings including increased variation in fiber size and increased internalized nuclei. No abnormal inclusions or vacuoles were present. Microsatellite markers for the four distal myopathy loci on chromosomes 2, 9 and 14 were studied on affected and several unaffected family members. Affected patients developed distal weakness in anterior foreleg muscles followed by progressive distal upper and proximal lower extremity involvement. Chromosome 2, 9 and 14 regional markers were informative and demonstrated recombinations with affected individuals in the pedigree. The resulting LOD scores obtained from the multipoint analyses gave no evidence of positive linkage to any of the regions and positively excluded (lod score less than -2) all, or virtually all, of the candidate regions examined. This autosomal dominant distal myopathy family does not show evidence of linkage to any of the known distal myopathy loci, suggesting the existence of at least one more distal myopathy locus. Furthermore, the clinical and pathological features appear distinct from other previously described but genetically-undetermined autosomal dominant distal myopathies.- - - - - - - - - - ranking = 14.40609457534keywords = muscle (Clic here for more details about this article) |
5/308. An unusual manifestation of diabetes mellitus.MEDICAL history: Type 2 diabetes mellitus for five years; unexplained 35-lb weight loss three years ago; Bell's palsy on right side many years ago. MEDICATIONS: glipizide, 10 mg/day. family history: Father died of leukemia at age 65; mother has kidney stones; no diabetes or neuromuscular disease. SOCIAL history: insurance salesman; heterosexual, promiscuous, uses condoms; smokes (25 pack years); does not drink. physical examination: Well-nourished, well developed, not in acute distress; had difficulty rising from a sitting position because of right lower extremity weakness. blood pressure, 154/74; pulse, 88; temperature, 36.6 degrees C; respiratory rate, 16. head, eyes, ears, nose, and throat: normal. neck: normal. heart: S4. Lungs: clear. abdomen: mildly obese. extremities: no cyanosis, clubbing, or edema; atrophy and weakness of right thigh and both calves; wide-based gait; able to walk on toes but not heels. Neurologic responses: cranial nerves intact; deep tendon reflexes, 1 symmetrically; plantar reflexes, flexor bilaterally. skin: macular rash in sun-exposed areas. LABORATORY FINDINGS: Hemoglobin, 13.2 gm/dL; mean corpuscular volume, 80 micron 3; white blood cell count, 7,200/mm3 (normal differential); platelet count, 137,000/mm3. serum: electrolytes, normal; blood urea nitrogen, 18 mg/dL; creatinine, 0.8 mg/dL; glucose, 308 mg/dL; total protein, albumin, liver enzymes, and creatine kinase, normal. urine: 1 glucose. Venereal disease test: nonreactive; hiv test: negative. DIFFERENTIAL diagnosis: dermatomyositis; heavy-metal poisoning; diabetic amyotrophy. HOSPITAL COURSE: The patient was given 50 mg/day of oral amitriptyline to alleviate the painful paresthesias and was switched to 20 U/day of subcutaneously injected neutral protamine Hagedorn (NPH) insulin to normalize the blood glucose level. Histologic studies of skin and muscle showed sun damage and neuropathic changes, respectively. There was no evidence of vasculitis. Screening for heavy-metal toxins produced negative results.- - - - - - - - - - ranking = 8.2030472876702keywords = muscle, atrophy (Clic here for more details about this article) |
6/308. MRI of the spinal cord in myelopathy complicating vitamin B12 deficiency: two additional cases and a review of the literature.Focal spinal cord lesions have been present in all previously reported cases of MRI appearances in myelopathy complicating vitamin B12 deficiency. We describe two further cases showing mild atrophy only and review the salient features of the previous 11 publications. MRI findings reflect quite closely the known pathological changes in this condition.- - - - - - - - - - ranking = 1keywords = atrophy (Clic here for more details about this article) |
7/308. Severe muscle weakness due to hypokalemia as a manifestation of small-cell carcinoma.We describe the case of a 56-year-old man with severe muscle weakness due to heavy hypokalemia (serum potassium 1.44 mmol/l) associated with inappropriate kaliuria and alkalemia. Subsequent investigation revealed the presence of ectopic ACTH hypersecretion due to a small-cell lung carcinoma. A significant clinical/laboratory improvement was achieved following chemotherapy-induced regression of the primary tumor. The profound hypokalemia was probably the result of cortisol hypersecretion, which in concert with the ACTH-induced decreased 11beta-hydroxysteroid dehydrogenase activity can exhibit an increased mineralocorticoid activity. In addition, other ACTH-dependent mineralocorticoids may play a contributory role in the development of severe hypokalemia.- - - - - - - - - - ranking = 36.015236438351keywords = muscle (Clic here for more details about this article) |
8/308. Myopathy with trabecular muscle fibers.A systematic review of muscle biopsies over a 15 year period in a large neurological hospital revealed 21 cases (7% of the total of non-inflammatory myopathies) with a distinctive pattern of myopathology and a limb-girdle clinical phenotype. The muscle pathology was dominated by a large prevalence (20-90%) of trabecular or lobulated fibers in which maldistribution of intermyofibrillar mitochondria produced a lobulated pattern of oxidative enzyme activity on transverse sections. The clinical picture was characterized by adult onset, slowly progressive muscle weakness affecting mainly proximal limb musculature, although mild distal weakness was also present in 60% of the cases. The trabecular pattern of oxidative enzyme reaction reflects maldistribution of the intermyofibrillar mitochondria; this may be caused by malfunction of a putative anchoring mechanism. While trabecular fibers can occur as a nonspecific alteration of muscle fibers in many diverse myopathies, the high prevalence of trabecular fibers as the dominant pathology in trabecular fiber myopathy makes it a distinctive (though not necessarily etiologically homogeneous) clinico-pathological entity.- - - - - - - - - - ranking = 57.624378301361keywords = muscle (Clic here for more details about this article) |
9/308. Undetectable dystrophin can still result in a relatively benign phenotype of dystrophinopathy.We present here a 28-year-old male patient with Becker muscular dystrophy whose skeletal muscle showed an absence of dystrophin. He has had progressive and predominantly proximal muscular wasting since 5 years of age, but was able to walk until 26 years of age. He showed hypertrophic calves, cardiomyopathy, and an elevated serum creatine kinase level (934 U/1). A skeletal muscle biopsy revealed advanced chronic myopathic changes. Immunohistochemical examination using anti-dystrophin antibodies against C-terminus showed deficiency of the protein. Rod domain and N-terminus were also absent in almost all muscle fibers, but only in a small part of the sample, they were faintly stained. beta-Dystroglycan and utrophin were present only in a small number of muscle fibers. dna and RT-PCR analysis showed a frame-shift deletion of exons 3-7 in the dystrophin gene. In such an exceptional case as this one, it is important to investigate the factors which determine the severity of dystrophinopathy.- - - - - - - - - - ranking = 28.812189150681keywords = muscle (Clic here for more details about this article) |
10/308. Distal neuralgic amyotrophy.Neuralgic amyotrophy consists of severe pain around the shoulder and arm followed by weakness in one or several muscles of the same area. We describe four patients with distal neuralgic amyotrophy in whom acute, severe, and transient pain around the shoulder or arm was followed by weakness of the forearm and hand muscles only. Minor sensory symptoms were present in only one patient. The presence of structural lesions causing the extent of the forearm and hand motor deficit was excluded by ancillary examinations. Electrophysiological studies showed a motor axonopathy and minimal sensory axonopathy. A follow-up of 2 years or longer showed either spontaneous improvement or residual motor deficit. Unfamiliarity with a clinically distal localization of neuralgic amyotrophy may result in misdiagnosis of lower cervical (poly)radiculopathy in view of the distal localization of the motor deficit and the high prevalence of coincidental abnormalities of the lower cervical spine on plain radiography, computed tomography, or magnetic resonance imaging.- - - - - - - - - - ranking = 14.40609457534keywords = muscle (Clic here for more details about this article) |
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