Cases reported "Muscular Diseases"

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1/16. Is congenital fibre type disproportion a true myopathy?

    The authors report a case of congenital fibre type disproportion in a 32-month-old male patient. A pathogenetic role of alcohol ("fetal alcohol syndrome") could be discussed here because the mother drank daily large quantities of alcohol during pregnancy. Histochemical features undistinguishable from those reported in congenital fibre type disproportion were also observed in two cases of globoid cell leucodystrophy (Krabbe's disease) and in one case of infantile acid maltase deficiency (Pompe's disease). Morphometric studies confirmed this analogy. The occurrence of a similar fibre type disproportion in conditions so completely different from each other casts doubts as to the specificity of these histoenzymatic features. It is suggested that at least some cases of congenital fibre type disproportion could result from a maturational insufficiency of type I motor neurons or from a damage brought to the schwann cells.
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2/16. Muscle MRI findings in a three-generation family affected by Bethlem myopathy.

    We report clinical and muscle magnetic resonance imaging (MRI) findings in three individuals (aged 6, 26 and 73 years) from a three-generation family with Bethlem myopathy, confirmed by molecular genetic analysis which showed an exon skipping mutation in the COL6A1 gene. The clinical severity ranged from mild proximal weakness and distal laxity in the younger patients, to inability to stand or walk and severe contractures in the 76-year-old grandmother. The pattern of muscle involvement showed variable severity in parallel with the severity of motor function impairment. Although there was a marked variability in the severity of the MRI findings, it was possible to recognize a specific pattern of muscle involvement in all three patients. This consisted of involvement of the peripheral region of the vastus lateralis and hamstrings muscles with relative sparing of their central part. This was best appreciated in the third decade of life, but could also be identified both in the younger patient with minimal MRI changes and in the oldest patient, despite her more severe and diffuse muscle involvement. This report suggests that muscle MRI could be used as an additional tool to establish the pattern and the degree of muscle involvement in patients with Bethlem myopathy. Further studies in a larger cohort are needed to evaluate the specificity of these findings.
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3/16. Intranuclear and cytoplasmic filamentous inclusions in distal myopathy (Welander).

    Ultrastructural examination of anterior tibial muscle from four patients with late-onset autosomal dominant distal myopathy of Welander-type revealed intrasarcoplasmic filamentous inclusions in association with rimmed vacuoles. In one of the patients, identical intranuclear filamentous inclusions were also found. These filamentous inclusions are similar to those described in inclusion body myositis (IBM). They have also been observed in hereditary neuromuscular disorders including autosomal recessive distal myopathy. Thus, the filamentous inclusions occur in different neuromuscular conditions with different etiologies. These findings further raise the question of the specificity of the filamentous inclusions in IBM.
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4/16. Minipolymyoclonus in congenital nemaline myopathy: a nonspecific clinical marker of neurogenic dysfunction.

    The authors report a seven-month-old boy with severe hypotonia, poor spontaneous movements, breathing difficulties and recurrent respiratory infections, dysmorphisms and a peculiar movement disorder: minipolymyoclonus (MPM), previously reported only in spinal muscular atrophies. MPM is characterized by nonrhythmic myoclonic jerks associated with a rhythmic tremor of the extended fingers polygraphically detected. A muscle biopsy showed pathological changes typical of congenital nemaline myopathy (CNM). The relationship between MPM and CNM may be explained on the presumptive basis of the "neurogenic" nature of this congenital myopathy or by the non-specificity of this clinical sign.
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5/16. Concentric laminated bodies. Ultrastructural demonstration of muscle fiber type specificity.

    Concentric laminated bodies were identified in the skeletal muscle of 3 children affected by muscle weakness and hypotonia with probable cerebral involvement. The mean Z-line and M-line widths from each of 11 muscle fibers containing the concentric laminated bodies were calculated. The mean Z-line widths were 61-81 nm and the mean M-line widths from 7 out of 11 fibers were 54-65 nm. According to our present system of fiber typing, the majority of these fibers would be classified as subtype IIB. The possible pathogenesis and fiber type specificity of the concentric laminated body is discussed.
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6/16. Fingerprint inclusions. Ultrastructural demonstration of muscle fiber type specificity.

    Fingerprint inclusions were identified in the skeletal muscle of a child with severe hypotonia. The mean Z-line and M-line widths from each of 19 muscle fibers containing the fingerprint inclusions were calculated. The mean Z-line widths were 85-99 nm, and the mean M-line widths were 75-101 nm. According to out present system of fiber typing, all of these fibers would be classified as Type I. The possible pathogenesis and fiber type specificity of the fingerprint inclusion is discussed.
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ranking = 5
keywords = specificity
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7/16. MR and CT appearance of iliopsoas bursal distention secondary to diseased hips.

    Occasionally hip joint disease may extend into surrounding structures, including the retroperitoneum, via the iliopsoas bursa. The enlargement of this bursa may present as an inguinal or pelvic mass that may affect other surrounding structures and can result in a multitude of clinical presentations. The two cases presented herein of iliopsoas bursa distention secondary to hip disease demonstrate the excellent specificity of CT and magnetic resonance in differentiating this clinical entity from other causes of groin masses.
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8/16. hematoxylin-stained bodies and tissue LE cells in a skeletal muscle biopsy.

    hematoxylin-stained bodies and tissue "LE cells" have been identified for the first time in a skeletal muscle biopsy from a 46-year-old white female with clinical and laboratory evidence of systemic lupus erythematosus. The specificity and limited usefulness of hematoxylin bodies are discussed.
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9/16. Peripheral source of MB band of creatine kinase in alcoholic rhabdomyolysis. Nonspecificity of MB isoenzyme for myocardial injury in undiluted serum samples.

    The MG isoenzyme of creatine kinase (CK MB) was strongly positive in the serum of a patient with alcoholic rhabdomyolysis, and it remained detectable by a standard qualitative assay over a two-year period without clinical or laboratory evidence of myocardial disease. MB isoenzyme was also demonstrated in a homogenate of skeletal muscle. Isoenzyme determinations in serum and tissue were repeated after dilution of toal CK activity to the range optimal for the assay (300 IU/L). Such dilution before isoenzyme separation rendered these samples negative for CK MB. The MB isoenzyme may be detectable in serum from peripheral sources in the presence of high total CK concentrations.
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ranking = 4
keywords = specificity
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10/16. Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit.

    Heritable phosphorylase kinase (Phk) deficiency is responsible for several forms of glycogen storage disease in humans and animals that differ in mode of inheritance and tissue-specificity. Mutations affecting different subunits and isoforms of Phk are expected to contribute to this heterogeneity. In the present study, we have investigated a case of muscle-specific, adult-onset Phk deficiency. The coding sequences of three candidate genes were analyzed by RT-PCR and sequencing: the muscle isoform of the alpha subunit (alpha M), a muscle-specifically expressed exon of the beta subunit, and the muscle isoform of the gamma subunit. Whereas the latter two sequences were found to be normal, we identified a nonsense mutation in alpha M. The condition of this patient therefore is a human homolog of the X-linked muscle Phk deficiency of I-strain mice. To our knowledge, this is the first description of a human Phk deficiency mutation.
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ranking = 1
keywords = specificity
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