1/50. Familial inclusion body myopathy with desmin storage. We report two adult familial cases of inclusion body myopathy (IBM) with desmin storage in skeletal muscle. Clinically, both patients presented late-onset, progressive, symmetrical, both proximal and distal muscle weakness. Muscle biopsy findings were identical in both cases and consisted of marked variability in fiber size, increased number of central nuclei and vacuolation involving 10% of fibers. Single or multiple vacuoles were located subsarcolemmally or in the center, and were rimmed by basophilic material. At the ultrastructural level, tubulofilamentous nuclear and cytoplasmic inclusions of 16-21 nm in diameter were frequently observed. In addition, large subsarcolemmal and central deposits composed of electron-dense granular material were present in many fibers. Immunocytochemistry revealed staining for desmin, vimentin and ubiquitin within both inclusions and vacuolated fibers. Possible structural and functional associations between these two types of muscle changes remain unclear. They may either represent two coexistent disease processes or merely reflect an abnormal form of muscle fiber degradation, with unidentifiable specificity. ( info) |
2/50. Inclusion body myositis long after dermatomyositis: a report of two cases. dermatomyositis, polymyositis, and inclusion body myositis are rare illnesses which appear to be distinct in clinical and pathologic features, pathogenesis, natural history, and response to therapy. We report two patients who first developed dermatomyositis, and then, after a disease-free interval of many years, developed inclusion body myositis. This may have useful therapeutic implications for patients with dermatomyositis whose illness bocomes refractory to treatment. ( info) |
3/50. dermatomyositis with the features of inclusion body myositis associated with carcinoma of the bladder. Inclusion body myositis (IBM) is a unique category of inflammatory myopathy. It is characterized histologically by the presence of muscle fibres with rimmed vacuoles and abnormal intracellular accumulations of proteins. We report here a 62-year-old patient with bladder carcinoma, where the signs of IBM overlapped with clinical features of dermatomyositis (DM). A combination of cutaneous changes typical for DM with histological and other features of IBM is exceedingly rare, and has not been previously addressed in dermatological literature. To the best of our knowledge this is also the first description of the association of DM/IBM with internal malignancy. ( info) |
4/50. A case of inclusion body myositis with benign monoclonal gammopathy successfully responding to repeated immunoabsorption. A 69 year old woman with inclusion body myositis is described. She presented with benign monoclonal gammopathy. She was resistant to steroid therapy, but responded to repeated immunoabsorption. Up to now, there has been no established therapy for inclusion body myositis, including IVIg. It is suggested that immunoabsorption could be an alternative therapy for inclusion body myositis, when it was accompanied by immunological abnormality. ( info) |
5/50. Partial laminin alpha2 chain deficiency in a patient with myopathy resembling inclusion body myositis. It is becoming evident that clinical phenotypes associated with partial laminin alpha2 chain deficiency are variable. We recently observed a 29-year-old man with leukoencephalopathy and vacuolar myopathy resembling inclusion body myositis. laminin alpha2 immunohistochemical analysis showed reduction of the protein on muscle fiber surfaces. Molecular analysis revealed two novel compound heterozygous mutations in the LAMA2 gene. This is the first report linking a mutation in the LaMA2 gene with leukoencephalopathy and inclusion body-like myositis. ( info) |
6/50. An Italian family with autosomal recessive quadriceps-sparing inclusion-body myopathy (ARQS-IBM) linked to chromosome 9p1. We report an Italian family with autosomal recessive quadriceps-sparing inclusion-body myopathy (ARQS-IBM). The patients (two second cousins) developed a slowly progressive distal and proximal myopathy with complete sparing of the quadriceps. Muscle biopsy showed rimmed vacuoles in numerous muscle fibers, and electron microscopy documented accumulation of 15-21 nm filaments. dna analysis established linkage to 9p1 and haplotype analysis revealed that the patients shared a recombined common haplotype. The gene locus of ARQS-IBM was initially mapped to chromosome 9p1-q1 in families of Iranian-Jewish origin and later confirmed in a few other ethnic groups. This is the first report of Italian patients with ARQS-IBM showing positive linkage to chromosome 9p1. Our data suggest that patients having distal and proximal myopathy with rimmed vacuoles and possible recessive inheritance, often classified as distal myopathies, should be thoroughly investigated according to the diagnostic criteria of h-IBM and, when positive, studied for linkage to chromosome 9p1. ( info) |
7/50. Inclusion body myositis masquerading as polymyositis: a case study. A case of inclusion body myositis masquerading as unresponsive polymyositis is presented. A 56-year-old woman diagnosed with "biopsy-proven" polymyositis in 1991 was referred to our clinic in 1997 with progressive, painless weakness that was unresponsive to steroid therapy. Further evaluation, including electromyography and review of the original muscle biopsy specimen, found a diagnosis of inclusion body myositis, leading to a change in the patient's prognosis and management. Inclusion body myositis is frequently mistaken for polymyositis, despite the fact that it is now the most common inflammatory myopathy affecting people older than 50 years. The purpose of this report is to increase awareness of this disease, to enhance early diagnosis, and to ensure appropriate management. We discuss the clinical findings, pathogenesis, and physiatric management, as well as compare this disease with other idiopathic inflammatory myopathies. ( info) |
| A case of a 38-year old man with a common variable immunodeficiency syndrome (CVID) is demonstrated who suffered at the same time from a histologically proven inclusion body myositis (IBM). The myositis did not resolve after institution of regular intravenous IgG infusions. This case demonstrates a very long lasting benign course of IBM. The occurrence with CVID may be a clinical hint for a viral pathogenesis of IBM. So far only two similar cases are reported in the literature. ( info) |
9/50. Sporadic inclusion body myositis in a patient with human T cell leukemia virus type 1-associated myelopathy. Sporadic inclusion body myositis is a disease of unknown pathogenesis in which a viral etiology has long been suspected. We report a case that occurred in a patient with human T cell leukemia virus type 1-associated myelopathy. The diagnosis was confirmed by histopathological studies of the deltoid muscle. nucleic acids amplification and in situ hybridization indicated the presence of integrated proviral dna and viral mRNA transcripts in the lesions. ( info) |
10/50. Report of a patient with inclusion body myositis and CD8 chronic lymphocytic leukaemia--post-mortem analysis of muscle and brain. We report a 73-year-old woman with sporadic inclusion body myositis (s-IBM) and a T-cell chronic lymphocytic leukaemia (T-CLL). The s-IBM diagnosis was based on clinical symptoms and muscle biopsy showing inflammatory infiltrates and rimmed vacuoles with 15 18 nm diameter tubulofilamentous inclusions on ultrastructural examination. The inflammatory infiltrates consisted of CD8 t-lymphocytes and macrophages. The diagnosis of a CD8 T-CLL was based on peripheral blood samples and bone marrow aspiration. The postmortem analysis of skeletal muscle showed fascicular atrophy, which may support a neurogenic component in s-IBM and the analysis of the brain showed only a few diffuse plaques in different cortical regions and occasionally neuritic plaques. A pathophysiological analogy between s-IBM and Alzheimer's has been suggested on the basis of similarities in protein accumulation in muscle of s-IBM patients and brain of Alzheimer's patients. However, we were unable to detect any changes suggestive of Alzheimer's disease in the brain of the s-IBM patient presented here. ( info) |