Cases reported "Muscular Diseases"

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1/1389. Wasting of the small hand muscles in upper and mid-cervical cord lesions.

    Four patients are described with destructive rheumatoid arthritis of the cervical spine and neurogenic wasting of forearm and hand muscles. The pathological connection is not immediately obvious, but a relationship between these two observations is described here with clinical, radiological, electrophysiological and necropsy findings. Compression of the anterior spinal artery at upper and mid-cervical levels is demonstrated to be the likely cause of changes lower in the spinal cord. These are shown to be due to the resulting ischaemia of the anterior part of the lower cervical spinal cord, with degeneration of the neurones innervating the forearm and hand muscles. These findings favour external compression of the anterior spinal artery leading to ischaemia in a watershed area as the likeliest explanation for this otherwise inappropriate and bizarre phenomenon.
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2/1389. Obturator internus muscle abscess in children: report of seven cases and review.

    Obturator internus muscle (OIM) abscess is an uncommon entity often mistaken for septic arthritis of the hip. We describe seven children with OIM abscess and review seven previously reported cases. The most common presenting symptoms were hip or thigh pain (14 patients), fever (13), and limp (13). The hip was flexed, abducted, and externally rotated in 11 patients. magnetic resonance imaging and computed tomography (CT) were diagnostic for OIM abscess in the 14 patients. Associated abscesses were located in the obturator externus muscle (5 patients), psoas muscle (2), and iliac muscle (1). The etiologic agents were staphylococcus aureus (8 patients), streptococcus pyogenes (2), neisseria gonorrhoeae (2), and enterococcus faecalis (1). Three patients underwent CT-guided percutaneous drainage, and three had surgical drainage. Three patients had ischial osteomyelitis in addition to OIM abscess. The 11 children with uncomplicated OIM abscess were treated for a median of 28 days. All patients had an uneventful recovery.
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3/1389. Judicious evaluation of adverse drug reactions: inaccurate assessment of 3-hydroxy-3-methylglutaryl coenzyme a reductase inhibitor-induced muscle injury.

    Adverse reactions in two patients who received HMG CoA reductase inhibitor therapy were reinvestigated because of their rarity. A case of permanent forearm myalgia was thought to be caused by atorvastatin. Closer evaluation and work-up revealed underlying lateral epicondylitis, and atorvastatin was not considered the cause of the disability. In another patient, rhabdomyolysis was suspected to be secondary to simvastatin. However, after an extensive review, the reaction was believed to be compartment syndrome of the anterior tibial area. An adverse drug reaction report requires careful and judicious assessment to assign the correct probability for the event.
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4/1389. Pubic pain in athletes: a case due to an abscess in the obturator muscle.

    Pubic pain is a common symptom in soccer players. Its cause can be difficult to determine. We report a case in a 19-year-old soccer player who had an abscess in the obturator internus muscle. We are aware of only one similar report in the literature. Painful limitation of internal rotation of the hip and evidence of infection suggested the diagnosis, which was confirmed by magnetic resonance imaging. In a soccer player, a fever and groin pain do not always indicate osteitis pubis. Limitation of internal rotation of the hip should suggest a lesion in the obturator internus muscle.
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5/1389. Implications of compound heterozygous insulin receptor mutations in congenital muscle fibre type disproportion myopathy for the receptor kinase activation.

    We studied insulin receptor kinase activation in two brothers with congenital muscle fibre type disproportion myopathy and compound heterozygous mutations of the insulin receptor gene, their parents, and their unaffected brother. In the father who has a heterozygote Arg1174-->Gln mutation, in situ activation of the receptor kinase in skeletal muscle was reduced about 70%. Selection of only those receptors that bound to anti-phosphotyrosine antibody showed that these receptors had normal kinase activity and that the reduction in overall kinase activity was due to the inability of about 70% of the receptors to become insulin-dependently activated. The mother carries a point mutation at the last base pair in exon 17 which, due to abnormal alternative splicing, could lead to normally transcribed receptor or truncated receptor lacking the kinase region. Kinase activation was normal in the mother's skeletal muscle, suggesting that virtually no truncated receptor was expressed. Receptor kinase activity was, however, reduced by 95 and 91% in the compound heterozygous brothers. This suggests that the mother's mutated allele contributes little to the generation of functional receptor protein and that the receptors in the mother's skeletal muscle are transcribed almost exclusively from the non-mutated allele. The mutation in exon 17 could lead to reduced transcription or rapid degradation of a predominantly transcribed truncated gene product or both.
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6/1389. Weakness associated with the pathological presence of lipid in skeletal muscle: a detailed study of a patient with carnitine deficiencey.

    A patient with muscular weakness demonstrating pathological lipid accumulation and abnormal mitochondria in skeletal muscle has been studied. The lipid accumulation and mitochondrial changes are thought to be related to the established deficiency of carnitine in this patient's muscle. The symptoms of muscular weakness associated with lipid accumulation in the skeletal muscle in the absence of complaint of muscle cramps or myglobinuria are thought to be diagnostic of carnitine deficiency. The failure of the sarcoplasmic reticulum to accumulate Ca2 is discussed. The patient's strength responded dramatically when propranolol was added to his steroid therapy.
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7/1389. The sternomastoid "tumor" of infancy.

    The sternomastoid "tumor" of infancy is a firm, fibrous mass, appearing at two to three weeks of age. It may or may not be associated with torticollis. Generally, the "tumor" initially grows, then stabilizes, and in about half the cases recedes spontaneously after a few months. It may leave a residual torticollis or may be associated with a facial or cranial asymmetry of a delayed torticollis. The etiology is unknown, a direct cause and effect relationship to birth trauma has been largely disproved although approximately half these children are products of breech deliveries. The treatment is controversial. Approximately half of these "tumors" will resolve spontaneously without sequelae. Progressive torticollis or development of facial asymmetry are considered indications for surgery. The purpose of this report is to acquaint the head and neck surgeon with this entity which may confront him for diagnosis and treatment.
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keywords = neck
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8/1389. Hypokalemic myopathy due to chronic alcoholism.

    A patient with hypokalemic myopathy occurring in the context of chronic alcoholism was reported. A 56-year-old male patient, heavy drinker for 20 years, complained of marked weakness and acutely developing pains in his limbs. The principal clinical findings were weakness and tenderness of the proximal limbs and girdle muscle. He was unable to lift his head or any extremities from the bed. Deep tendon reflexes were diminished, but not absent. There was no sensory disturbance except for muscle tenderness. These clinical manifestations disappeared gradually by abstinence from drinking, and potassium administration therapy, and the patient recovered completely on the 26th day after onset. On the day after admission (8th day), serum potassium value was 2.2mEq/L, and serum CPK activity was 4270IU. The ECG pattern was consistent with a diagnosis of low potassium content in serum, and the EMG pattern was consistent with a diagnosis of myopathy. These electrophysiological findings had a tendency to recover from this pattern to normal range correspondingly with clinical improvement. The repeated muscle biopsies showed that vacuolation, hyaline degeneration and significant phagocyte infiltration were observed in the muscle on the 9th day after the onset of muscle weakness, and that these pathological findings disappeared almost completely three weeks later. The frequently repeated examinations of potassium content and CPK activity in sera showed that there was a close correlation between these biochemical abnormalities and clinical improvememt. The pathogenesis of alcoholic myopathy and significance of CPK abnormality in chronic alcoholism were discussed.
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9/1389. Calcific myonecrosis.

    Calcific myonecrosis is a rare and late sequela of compartment syndrome, which becomes symptomatic years after the initial trauma. We diagnosed this condition in a 64-year old man, 42 years after he sustained a shot-gun wound to the right lower leg. Total excision of a peripherally calcified, cystic mass, continuous with the anterior tibial muscle belly resulted in complete resolution of symptoms. Consideration of the diagnosis is warranted in patients with a history of major injury who develop a soft tissue mass in the traumatized compartment. The treatment of choice is marginal excision.
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10/1389. Myopathy with hexagonally cross-linked tubular arrays: a new autosomal dominant or sporadic congenital myopathy.

    We describe a slowly progressive myopathy with unique crystalloid inclusions in type 2 muscle fibers in a father and his son, as well as one more unrelated individual. The inclusions were strongly eosinophilic and purple by the Gomori method. They were composed of vesicular profiles, approximately 20 nm in cross-diameter, connected by radially arranged double spokes arising at 60 degrees angles. The inclusions were not related to any normal cellular organelle. Extensive immunohistochemical studies failed to reveal their chemical nature. It is suggested that this is a new congenital myopathy with characteristic intracytoplasmic inclusions, occurring sporadically or with an autosomal dominant pattern of inheritance.
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