1/21. erdheim-chester disease with intramuscular lipogranuloma.We report on a rare manifestation of erdheim-chester disease with intramuscular lipogranuloma. The patient was a 66-year-old man who noted a soft tissue mass in the right quadriceps femoris muscle. Radiographs revealed symmetrical osteosclerosis in the diametaphysis of both femora and tibiae. An open biopsy revealed a proliferation of lipid-laden histiocytes in the femoral bone marrow and the quadriceps femoris muscle. To our knowledge, this is the second case of erdheim-chester disease involving muscle.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
2/21. central nervous system disease in patients with macrophagic myofasciitis.Macrophagic myofasciitis (MMF), a condition newly recognized in france, is manifested by diffuse myalgias and characterized by highly specific myopathological alterations which have recently been shown to represent an unusually persistent local reaction to intramuscular injections of aluminium-containing vaccines. Among 92 MMF patients recognized so far, eight of them, which included the seven patients reported here, had a symptomatic demyelinating CNS disorder. CNS manifestations included hemisensory or sensorimotor symptoms (four out of seven), bilateral pyramidal signs (six out of seven), cerebellar signs (four out of seven), visual loss (two out of seven), cognitive and behavioural disorders (one out of seven) and bladder dysfunction (one out of seven). brain T(2)-weighted MRI showed single (two out of seven) or multiple (four out of seven) supratentorial white matter hyperintense signals and corpus callosum atrophy (one out of seven). evoked potentials were abnormal in four out of six patients and CSF in four out of seven. According to Poser's criteria for multiple sclerosis, the diagnosis was clinically definite (five out of seven) or clinically probable multiple sclerosis (two out of seven). Six out of seven patients had diffuse myalgias. deltoid muscle biopsy showed stereotypical accumulations of PAS (periodic acid-Schiff)-positive macrophages, sparse CD8 T cells and minimal myofibre damage. Aluminium-containing vaccines had been administered 3-78 months (median = 33 months) before muscle biopsy (hepatitis b virus: four out of seven, tetanus toxoid: one out of seven, both hepatitis b virus and tetanus toxoid: two out of seven). The association between MMF and multiple sclerosis-like disorders may give new insights into the controversial issues surrounding vaccinations and demyelinating CNS disorders. deltoid muscle biopsy searching for myopathological alterations of MMF should be performed in multiple sclerosis patients with diffuse myalgias.- - - - - - - - - - ranking = 4keywords = sclerosis (Clic here for more details about this article) |
3/21. neurologic manifestations of progressive systemic sclerosis.Neurologic involvement in progressive systemic sclerosis is considered uncommon. We retrospectively examined the prevalence and nature of neurologic complications in 50 patients with progressive systemic sclerosis. In 20 (40%), neurologic abnormalities were detected, with a total of 28 neurologic manifestations. All levels of the central and peripheral nervous system were affected: muscle (22%), peripheral nerve (18%), spinal cord (8%), and brain (6%). Of note were the presence of myelopathy in four patients and inclusion-body myositis in two. In 10 patients (20%), no definable cause of the neurologic dysfunction could be identified, apart from progressive systemic sclerosis. Thus, neurologic presentations of progressive systemic sclerosis are much more common than previously reported and may be due to direct involvement of the nervous system by a primary pathologic process in a significant number of patients.- - - - - - - - - - ranking = 8keywords = sclerosis (Clic here for more details about this article) |
4/21. Inclusion body myopathy associated with motor neuron syndrome: three case reports.BACKGROUND: Hereditary inclusion body myopathy (h-IBM) is an autosomal-recessive or autosomal-dominant hereditary disease characterized by peculiar findings in muscle biopsies which resemble those occurring in inclusion body myositis (IBM). The absence of an inflammatory infiltrate in myofibers in h-IBM is a relevant differential criterion between the two pathologies. Motor neuron diseases (MND) represent a group of disorders involving both upper and lower motor neurons, characterized by fasciculations, progressive muscle weakness, and muscle atrophy. The most common form and prototype of MND is the amyotrophic lateral sclerosis (ALS) or Charcot's Disease, a progressive and fatal neurodegenerative disorder occurring in late adulthood. The pathogenesis of ALS remains still unknown, a variety of hypotheses having been proposed to account for the disease. The association of both pathologies is not common and offers new hypotheses about the pathogenic mechanisms in skeletal muscle and nervous system degeneration. patients AND methods: Described are three case reports in which we observed the clinical, laboratory and histopathological association of IBM and MND. In one case, dementia was also present. Muscle data was obtained by muscle biopsies and immunohistochemistry, while diagnosis of MND was supported by common neurophysiological techniques. RESULTS: The accumulation ofphosphorylated neurofilaments with a hereditary IBM-like pattern in skeletal muscle fibers without accumulation of amyloid-beta protein was observed. CONCLUSIONS: A better knowledge of the mechanisms in cellular death cascade could explain the pathogenesis of these different degenerative disorders.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
5/21. Clinicopathological phenotype of ALS with a novel G72C SOD1 gene mutation mimicking a myopathy.A 71-year-old woman with a family history of amyotrophic lateral sclerosis (ALS) was investigated for symmetrical, proximal limb and abdominal muscle weakness. Initial examination showed mild proximal muscle weakness in the arms and legs, slightly elevated serum creatine kinase (CK) level, and normal electromyographic (EMG) findings. A myopathy was the presumed diagnosis. Over the next year, weakness became severe and tendon reflexes became unelicitable; no upper motor signs were present. EMG then showed acute and chronic denervation and a muscle biopsy showed target fibers and grouped atrophy. dna analysis revealed a G72C CuZn-superoxide dismutase (SOD1) mutation. Fasciculations were absent throughout the disease. The patient died 53 months after symptom onset and autopsy revealed loss of lower motor neurons (LMN) and SOD1-positive inclusions. This case expands the phenotypic spectrum of ALS associated with SOD1 mutations to include presenting features that mimic a myopathy.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
6/21. Peripheral neuropathy, polymyalgia and arthralgia: a paraneoplastic syndrome associated with myeloma.We describe a patient with peripheral neuropathy, polymyalgia, arthralgia and cervical vertebral osteosclerosis who was subsequently diagnosed to have fatal multiple myeloma with IgG gammopathy and lambda urinary chains. The initial presentation and clinical features are discussed.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
7/21. tryptophan-induced eosinophilia-myalgia syndrome.Eight patients who became ill while taking tryptophan had myalgia, fatigue, rash, fever, edema, alopecia, arthralgias, diminished joint motion, skin tightening, muscle cramping, and distal paresthesias. Three had shortness of breath, and one had pulmonary hypertension. Laboratory abnormalities included peripheral eosinophilia, leukocytosis, thrombocytosis, raised erythrocyte sedimentation rate, and elevated serum levels of aldolase, lactate dehydrogenase, and liver enzymes. Of 4 chest radiographs, 3 were abnormal. Of 5 skin and muscle biopsies, 4 showed sclerosis or mixed inflammatory cell infiltration of the dermis, subcutis, and fascia. eosinophils were often present, but vasculitis was absent. Muscle inflammation was minimal. We conclude that the "eosinophilia-myalgia syndrome" is related to the ingestion of tryptophan and that abnormalities in the secretion of lymphokines may be important in its pathogenesis.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
8/21. Digital subtraction angiography in musculoskeletal tumors and other conditions.One hundred and forty consecutive DSA examinations of various musculoskeletal diseases were analyzed with respect to the contributions and/or limits of this modern diagnostic imaging modality. angiography remains the imaging tool of choice for many benign and malignant orthopedic conditions of bones and soft tissues, mainly when MRI is still not generally available. It remains indispensable for embolization and/or local chemotherapy. DSA has the advantage of being less invasive and it also surpasses analog arteriography in better visualization of vascular patterns hidden in hyperostosis, sclerosis, and metallic shadows. Angiographic investigations, when necessary, should therefore start with DSA.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
9/21. L-tryptophan ingestion associated with eosinophilic fasciitis but not progressive systemic sclerosis.OBJECTIVE: To assess the use of L-tryptophan by patients with eosinophilic fasciitis and compare this with its use by patients with progressive systemic sclerosis (scleroderma). DESIGN: Retrospective and prospective analysis. Six patients with eosinophilic fasciitis were identified retrospectively and two prospectively. Retrospective identification of patients was done by questioning hospital-affiliated rheumatologists and dermatologists and by searching the hospital dermatopathology database. The patients with scleroderma or morphea were prospectively identified by questioning consecutive office patients with these established diagnoses. SETTING: University of pennsylvania rheumatology and dermatology practices. patients: Eight patients with eosinophilic fasciitis; 40 consecutive patients with scleroderma (27 with diffuse cutaneous and 13, limited cutaneous disease); 3 patients with morphea. RESULTS OF DATA ANALYSIS: All eight patients with eosinophilic fasciitis had taken L-tryptophan before the onset of their disease. All had myalgias and high peripheral eosinophil counts (most greater than 5000 cells/mm3). Only 1 of 40 patients with scleroderma (no patients with morphea) had used L-tryptophan preceding illness (P less than 0.001 compared with eosinophilic fasciitis). Six patients with eosinophilic fasciitis had taken L-tryptophan for less than 8 months. One patient had taken it for 9 years before developing skin induration. Two patients were newly identified as having hypothyroidism; two developed neuropathy; and two had severe flexion contractures (several occurring in areas without skin induration). Five patients had low-titer antinuclear antibodies, indicating a possible autoimmune process. Most patients had only a partial response to systemic corticosteroid therapy. One patient has had important disease regression in response to isotretenoin therapy that was evident even while she continued to take L-tryptophan. CONCLUSIONS: L-tryptophan use can lead to eosinophilic fasciitis whereas it does not appear to cause classic scleroderma. The disease process does not automatically remit after discontinuation of L-tryptophan-containing products.- - - - - - - - - - ranking = 5keywords = sclerosis (Clic here for more details about this article) |
10/21. Isolated intestinal myopathy resembling progressive systemic sclerosis in a child.A 15-yr-old girl had a life-threatening episode of toxic megacolon at age 6 yr and a life-long history of constipation and abdominal distention. A diagnosis of chronic intestinal pseudoobstruction was made. Her clinical course was that of repeated bouts of pseudoobstruction, multiple episodes of intestinal volvulus at different sites, and progressive cachexia. Histologic examination of specimens of jejunum, ileum, appendix, and colon revealed progressive fibrotic changes in intestinal smooth muscle. The abnormalities observed are most consistent with those described in progressive systemic sclerosis, but no cutaneous manifestations of this disorder have been noted in this child, and no abnormalities in other organs have been detected. Thus, this patient represents a childhood case of chronic intestinal pseudoobstruction caused by a disorder closely resembling progressive systemic sclerosis confined to the gastrointestinal tract.- - - - - - - - - - ranking = 6keywords = sclerosis (Clic here for more details about this article) |
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