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Kawasaki's disease is an inflammatory syndrome of young children that affects multiple organ systems. The most common ophthalmologic manifestations of Kawasaki's disease are bilateral conjunctival injection and nongranulomatous iridocyclitis. To our knowledge, this patient is the first with Kawasaki's disease to demonstrate extraocular muscle palsy and orbital myositis.
Myositis ossificans traumatica (MOT) is a rare musculoskeletal disorder in young children. Clinical and imaging presentation in the early stage of disease makes it difficult to differentiate between infection and musculoskeletal neoplasms, particularly in the absence of a history of trauma. Three cases of MOT in children under the age of 10 years, two with inferential trauma, are presented and the findings on different imaging modalities are discussed with reference to the existing literature. While findings based on a single imaging technique, including MRI, may be rather non-specific and even misleading, the combination of different modalities can assist in the consideration of MOT as a possible diagnosis. For example, the demonstration of soft-tissue haematoma on US would suggest the traumatic origin. A rational imaging approach is proposed.
Inclusion body myositis (IBM) is a form of idiopathic inflammatory myopathy of unknown aetiology. A strong association with HLA class II (HLA-DR3) suggested a role for genes in the human major histocompatibility complex (MHC) in the predisposition to this disease. In this study, we have taken advantage of the ancestral haplotype (AH) concept and historical recombinations to map for a possible susceptibility gene(s) in the MHC. We performed detailed typing of three MHC-related HSP70 genes and defined allelic combinations in the context of MHC AH. We also modified existing methods to give a simple and accurate method for typing two TNF microsatellites. Using the HSP70 and TNF markers and HLA-DR, -B, and C4 typing of our patients with IBM, we defined a potential site for the MHC-associated susceptibility gene(s) in the region between HLA-DR and C4.
A case of granulomatous myositis as a manifestation of chronic graft-versus-host disease is presented. The clinical presentation, MR imaging appearances, pathologic features and excellent response to treatment with immunosuppression are described. To the best of our knowledge, based on a world literature search, this is the first report of graft-versus-host disease presenting as granulomatous polymyositis.,
We report a case of proliferative myositis in the right biceps of a 56-year-old man with acquired immune deficiency syndrome (AIDS). Imaging methods included sonography, computed tomography and magnetic resonance imaging. The diagnosis was made by a core-cut biopsy and fine needle aspiration biopsy with immunohistochemical analysis. The lesion disappeared after 2 months without treatment. It is particularly important to determine whether intramuscular masses arising in patients with AIDS are due to an infectious or malignant process.
We report the magnetic resonance imaging findings in a case of localized myositis in a 23-year-old man with long-standing Behçet disease.
MRI findings of a patient with dropped-head syndrome due to focal myositis of the neck extensor muscles are presented. MRI showed oedematous changes and marked enhancement of the neck extensor muscles. After therapy MRI demonstrated disappearance of the abnormal findings.
Myositis proliferans is a reactive, intramuscular soft tissue disease characterized by fibroblast and myofibroblast proliferation, showing similarities to the phase-like development seen in the general pathology of wound healing and hypertrophic scars. Immunohistochemically, a combined expression of vimentin and alpha-sm actin is seen in the spindle-shaped cell formations. The decisive histological preparations is supported by immunohistochemical techniques, especially in the differentiation from sarcoma. If a definite diagnosis is made, incomplete excision may suffice.
Myositis ossificans progressiva (MOP) is a rare hereditary connective tissue disorder characterized by progressive ossification of striated muscle and connective tissue associated with pain and disability. It is presumably transmitted as an autosomal dominant defect. Congenital anomalies of the hands and feet are early signs of this disease. Involvement of the spine, hips and extremities lead to the development of the "stone man" with only less than 600 cases reported in the literature. We present a case of MOP with typical muscle ossifications and skeletal malformations.
Two cases on myositis ossificans circumscripta (MOC) in the arm are reported. Plain X-ray films and magnetic resonance imaging (MRI) were performed in both cases. In the first, an intramuscular tumor-like mass without calcifications was found on MRI with soft-tissue edema extension. In the second, MRI disclosed additional bone-marrow edema. The diagnosis of MOC was confirmed by biopsy in one case and by follow-up in the other. MOC is a benign soft-tissue lesion that is rare in children, with an acute course and usually spontaneously favorable evolution. The differential diagnosis from an infection or a malignant tumor remains difficult. The best imaging modalities are conventional radiography and MRI. The MRI patterns of MOC are typical but not pathognomonic; typical MRI findings in conjunction with clinical symptoms during the early phase of MOC permit the postponement of a biopsy or aggressive surgical procedures. Surgery is indicated for cases not showing typical MOC calcifications at a later stage.
Despite the unknown etiology and pathogenesis of sporadic inclusion body myositis (s-IBM), investigators have speculated that the lysosome system in muscle fiber plays a central role in rimmed vacuole formation, a hallmark of s-IBM. We explored the role of receptor-mediated intracellular transport and autophagy in the lysosomal system in the abnormal accumulation of rimmed vacuoles in s-IBM. Expressions of mannose 6-phosphate receptor (M6PR), clathrin and hApg5 and hApg12 were analyzed in muscle biopsy specimens from patients with s-IBM, amyotrophic lateral sclerosis (ALS) or peripheral neuropathy and in normal human muscle specimens by means of immunohistochemistry and reverse transcriptase-polymerase chain reaction (RT-PCR). Most muscle fibers in control specimens showed little or no immunoreactivity for clathrin and M6PR, which are involved in the receptor-mediated intracellular transport. Abnormal increases in both proteins were observed mainly in the sarcoplasm of atrophic fibers in all diseased specimens. In s-IBM muscles in particular, clathrin and M6PR were often observed inside rimmed vacuoles and in the sarcoplasm of vacuolated or non-vacuolated fibers. mRNA levels of hApg5 and hApg12, which are involved in autophagic vacuole formation, as well as of M6PR and clathrin were significantly increased in s-IBM muscles in comparison to levels in normal and ALS/peripheral neuropathy muscles. Our results suggest that the transport of newly synthesized lysosomal enzymes from the secretory pathway via the trans-Golgi network of the Golgi apparatus and autophagic vacuole formation (i.e., autophagy) in the lysosome system are activated in s-IBM muscles. Remarkable accumulation of rimmed vacuoles is thought to occur because of abnormal lysosome function, especially the formation or turnover of autolysosomes after the fusion of autophagic vacuoles with the early endosomes or because of the increase in the rate of muscle fiber breakdown.
We reported three cases (two familial and one sporadic) of X-linked Emery-Dreifuss muscular dystrophy (EDMD), genetically documented. Two patients demonstrated a typical inclusion body myositis (IBM)-like morphology. The third patient had only minor changes. Patients had elbow and ankle contractures, progressive wasting of humeroperoneal muscles and cardiac failure (pacemaker implantation in all). There was a mutation within the Xq28 gene and complete absence of emerin in the nuclear membrane. Mononuclear cell infiltrations, rimmed vacuoles, amyloid deposits, as well as cytoplasmic and nuclear tubulofilamentous muscle inclusions were most unusual findings. Coexistence of IBM-like morphology and X-linked recessive EDMD might indicate that pathological features of IBM are nonspecific and may be present in other neuromuscular disorders.
Myostatin is a negative regulator of muscle mass and strength. Sporadic inclusion-body myositis (s-IBM) is the most common degenerative muscle disease of older persons and is characterized by pronounced muscle wasting. s-IBM is of unknown etiology and pathogenesis, and it lacks definitive treatment. We have now demonstrated in samples from 12 s-IBM biopsies that: (1) by light and electron microscopic immunocytochemistry, myostatin/myostatin precursor is accumulated within muscle fibers and co-localized with amyloid-beta (Abeta); (2) by immunoblots, both myostatin and myostatin precursor are increased; and (3) by immunoprecipitation, myostatin precursor complexes with Abeta. Our study suggests that myostatin/myostatin precursor, either alone, or bound to Abeta, may play a novel role in the pathogenesis of s-IBM.
Myositis ossificans circumscripta (MOC) is a benign condition of heterotopic bone formation that remains difficult to distinguish from soft-tissue and bone malignancies. We describe an unusual case of non-traumatic MOC in the cervical paraspinal muscle. The diagnosis could only be established after surgery and histological examination. We present a review of the literature on this subject and discuss some related features (radiological and histological).
Sporadic inclusion body myositis (s-IBM) is characterised by progressive weakness of proximal and distal limb muscles. Most patients are aged over 50 years at disease onset. Muscle biopsy reveals an inflammatory myopathy and cytoplasmic amyloid deposits. The mononuclear infiltrate is dominated by CD8+ T-cells. Several investigators have described associations between s-IBM and certain HLA antigens and alleles. However, to date neither HLA class I nor II alleles have been analysed in a large series of patients. We typed various HLA class I and II alleles in 47 patients suffering from s-IBM using sequence specific-primer pairs (SSPPCR). The results were compared with published German controls. Additional Bonferroni adjustment was performed over all allele groups corresponding to serologically defined antigens within one HLA class I or II locus. After Bonferroni adjustment, we found a significant increase in frequency of the following HLA alleles for s-IBM patients when compared with normal controls: A*03 (p = 0.0002), B*08 (p = 0.002), DRB1*03 (p = 0.0000002), and DQB1*05 (p = 0.02). HLA typing may be helpful to distinguish between subgroups of s-IBM patients. Moreover, HLA analysis may aid in identifying patients who might profit from future therapeutic strategies.
The clinical features of inclusion body myositis (IBM) were of minor importance in the design of consensus diagnostic criteria, mainly because of controversial views on the specificity of signs and symptoms, although some authors reported "typical" signs. To re-assess the clinical spectrum of IBM, a single investigator using a standard protocol studied a cohort of 64 patients cross-sectionally. Symptom onset was before the age of 50 years in 20% of cases. Only a few patients (14 %) started with weakness other than that of quadriceps, finger flexor or pharyngeal muscles. The sequence of power loss was erratic, but onset of symptoms with quadriceps weakness predicted an earlier onset of dysphagia in older patients (> or = 56 years) compared with younger ones (< 56 years) (p = 0.02). Despite widespread weakness patients had favourable scores on three commonly used function scales and they kept their employment. Complete wheel-chair dependency was rare (3 %). A dominant characteristic was the anatomical distribution of afflicted muscles: ventral extremity muscle groups were more affected than dorsal muscle groups and girdle muscles were least affected, the latter preserving postural stability. Ankylosis, especially in extension of the fingers,was frequently present. Together with the sparing of intrinsic hand muscles it was helpful in the preservation of many skillful movements. IBM has a unique distribution of muscle weakness. Ankylotic contractures are common. We feel that their joint impact on daily functioning is characteristic for the disease.
Sporadic inclusion body myositis (s-IBM) is an acquired inflammatory muscle disease of unknown cause. In general, s-IBM presents with slowly progressive, asymmetric weakness, and atrophy of skeletal muscle. There is a mild transitory or nil responsiveness to standard immunosuppressive treatment. A controlled cross-over study of 22 s-IBM patients over 3 months showed a partial improvement in those treated with high-dose intravenous immunoglobulin therapy (IVIG) versus placebo. The present study included 22 patients aged 32-75 years and with a mean duration of disease of 5.2+/-3.6 years. They were randomized by a double-blind, placebo-controlled, cross-over design to monthly infusions of 2 g/kg bodyweight IVIG or to placebo for 6 months each, followed by the alternative treatment. After 6 and 12 months the response to treatment was evaluated, using a modified Medical Research Council scale, Neuromuscular Symptom Score (NSS), the patient's own assessment of improvement, arm outstretched time, and electromyography. No serious side effects were seen, in particular no viral infection and no major cardiac or neurological complications. Overall there was no progression of the disease in 90% of patients, unlike that which might have been expected in untreated patients. A mild and significant improvement (11%) in clinical symptoms was found using NSS, but not with other test procedures. There was a trend to mild improvement in treated patients when using other tests. Individual responses to treatment was heterogeneous. The validity of this study may be reduced by mismatch of groups with regard to age at onset and variability in disease expression. The findings of this study largely confirm those of a previous IVIG trial. Treatment with IVIG may be mildly effective in s-IBM by preventing disease progression or inducing mild improvement. Long-term studies are needed to evaluate further the benefit of IVIG therapy in s-IBM.
The hereditary degenerative muscle disease "muscular dystrophy with myositis" of the mouse (MDM, genotype mdm/mdm) is caused by a spontaneous recessive mutation on chromosome 2. Skeletal muscles of MDM mice degenerate during the first few postnatal weeks and subsequently regenerate. The cellular and molecular mechanisms of this muscle disease are not yet understood. An inflammatory component as implied by its name seems unlikely. By applying quantitative electron microscopy, we demonstrate a transient increase of up to 4-fold in the satellite cell frequency in both fast and slow muscles of affected animals. This difference from wildtype controls (+/+ or +/mdm) is also reflected in the yield of mononucleate myogenic cells upon dissociation of skeletal muscle and subsequent cell culture. Unlike the increase in satellite cell density in the myotonic ADR mouse, this phenomenon is not accompanied with a shift to more oxidative fibre types. It may however be related to the more profuse micro-vascularization of MDM muscle.