1/71. Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency.plectin, an intermediate filament linking protein, is normally associated with the sarcolemma, nuclear membrane, and intermyofibrillar network in muscle, and with hemisdesmosomes in skin. A 20-year-old female with epidermolysis bullosa simplex since birth had progressive ocular, facial, limb, and trunkal weakness and fatigability since age 9, fivefold CK elevation, a 25% decrement with myopathic motor unit potentials and increased electrical irritability on electromyography, and no anti-acetylcholine receptor (AChR) antibodies. plectin expression was absent in muscle and severe plectin deficiency was noted in skin. Morphologic studies revealed necrotic and regenerating fibers and a wide spectrum of ultrastructural abnormalities: large accumulations of heterochromatic and lobulated nuclei, rare apoptotic nuclei, numerous cytoplasmic and few intranuclear nemaline rods, disarrayed myofibrils, thick-filament loss, vacuolar change, and pathologic alterations in membranous organelles. Many endplates (EPs) had an abnormal configuration with chains of small regions over the fiber surface and a few displayed focal degeneration of the junctional folds. The EP AChR content was normal. in vitro electrophysiologic studies showed normal quantal release by nerve impulse, small miniature EP potentials, and fetal as well as adult AChR channels at the EP. Our findings support the notion that plectin is essential for the structural integrity of muscle and skin, and for normal neuromuscular transmission.- - - - - - - - - - ranking = 1keywords = muscle (Clic here for more details about this article) |
2/71. intestinal pseudo-obstruction in systemic lupus erythematosus: an uncommon but important clinical manifestation.OBJECTIVES: To document intestinal pseudo-obstruction (IpsO) as a recognised clinical manifestation of systemic lupus erythematosus (SLE) and a possible new clinical entity with its apparent association with ureterohydronephrosis. METHODOLOGY: We report six lupus patients who presented with IpsO and review 12 other cases from an English literature search. IpsO is defined as the presence of clinical features suggestive of intestinal obstruction but without organic obstruction, namely absence of bowel sounds, presence of multiple fluid levels on plain abdominal x-rays and exclusion of organic obstruction by imaging or surgical procedure. Other clinical characteristics related to the underlying lupus, serological and histological findings, treatment modalities and outcomes of these patients were reviewed. RESULTS: All 18 patients fulfilled the ACR revised classification criteria for SLE. None showed any clinical features of scleroderma or overlap syndrome. The mean age of onset of IpsO was 29.0 (15-47) y. The female to male ratio was 16:2. Nine patients had IpsO as the initial presentation of their underlying lupus. Coexisting lupus involvement of other organ systems included glomerulonephritis (n=7), thrombocytopenia (n=5) and cerebral lupus (n=3). The serology data and autoantibody profile of some of the previously reported patients were incomplete. In our series, anti-Ro antibody was positive in 5/6 while anti-RNP was found in 1/6 patients only. All our patients had active lupus serology at presentation. 17/18 patients required the use of high dose systemic corticosteroid therapy while one patient responded to topical adrenocorticotrophin hormone treatment. Response was good and was observed early after commencement. azathioprine was used as maintenance therapy in 6/18 patients with good effects. An apparent association with the presence of bilateral ureterohydronephrosis was found in 12/18 patients. These patients presented with dysuria without positive bacterial culture though features of chronic interstitial cystitis were not invariably found in these patients. CONCLUSION: IpsO is an uncommon but important manifestation of SLE. The underlying pathology is not fully understood but it may be related to immune complex deposition. The finding of coexisting ureterohydronephrosis suggests that there may also be a central smooth muscle motility problem of neuropathic or myogenic pathophysiology which may or may not be secondary to vasculitis. Early recognition and treatment of IpsO in SLE is important.- - - - - - - - - - ranking = 0.33333333333333keywords = muscle (Clic here for more details about this article) |
3/71. Familial mitochondrial intestinal pseudo-obstruction and neurogenic bladder.Intestinal dysmotility and neurogenic bladder have been described as part of two autosomal-recessive mitochondrial disorders assumed to be due to a defect in communication between the nuclear and mitochondrial genomes: myoneurogastrointestinal encephalopathy (MNGIE) and diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (wolfram syndrome). Partial cytochrome c oxidase deficiency has been described in both. We describe three Ashkenazi Jewish siblings with progressive intestinal dysmotility, neurogenic bladder, and autonomic manifestations but no central nervous system involvement. Cytochrome c oxidase deficiency was demonstrated in peripheral and multiple intestinal muscle biopsies. Mitochondrial dna analysis of an intestinal biopsy of patient 1 showed heteroplasmy consisting of a normal 16.5-kb band and an approximately 28-kb band, suggestive of a duplication. Mitochondrial dna analysis of a muscle biopsy of patient 2 showed multiple deletions, mainly 10- and 11-kb bands. We suggest that this unique combination of intestinal pseudo-obstruction and neurogenic bladder could comprise a new autosomal-recessive mitochondrial disorder.- - - - - - - - - - ranking = 0.66666666666667keywords = muscle (Clic here for more details about this article) |
4/71. Chronic intestinal pseudo-obstruction in systemic lupus erythematosus due to intestinal smooth muscle myopathy.We report the case of a woman with systemic lupus erythematosus initially manifesting with fever, rash and arthritis, and two years later with Class IV lupus nephritis. Following treatment with cyclophosphamide she developed symptoms and signs of chronic intestinal pseudo-obstruction (CIPO) that was initially thought to be due to a neutropenic enterocolitis. However, persistence of symptoms resulted in segmental resection of the ileum which showed widespread myocyte necrosis and active inflammation within the muscularis propria. A subsequent, more extensive ileocolic resection showed severe diffuse atrophy and fibrosis of the muscularis propria throughout the resected bowel. The absence of mesenteric vasculitis and the clinical response of the CIPO to the immunosupressive regimen of prednisolone and cyclosporin A suggest that the bowel muscle coat changes reflect an intestinal myopathy secondary to systemic lupus erythematosus, and may have an auto-immune etiology.- - - - - - - - - - ranking = 1.6666666666667keywords = muscle (Clic here for more details about this article) |
5/71. Paralytic ileus in a mechanically ventilated preterm infant treated with fentanyl.The administration of fentanyl for sedation of ventilated newborns can induce several side-effects such as hypertension, respiratory muscle rigidity and, as shown in this report, decreased gastrointestinal motility. We report a case of paralytic ileus in a ventilated preterm infant who was given fentanyl in the first 24 hours of life. To our knowledge, the association of paralytic ileus with fentanyl has not been reported previously in full-term or preterm infants. This study indicates that early recognition is required to shorten the delay in diagnosis.- - - - - - - - - - ranking = 0.33333333333333keywords = muscle (Clic here for more details about this article) |
6/71. Familial visceral myopathy with carcinoma of unknown primary.We report an autopsy case of a 35-yr-old man with familial visceral myopathy, a cause of primary intestinal pseudo-obstruction. The patient died from complications of familial visceral myopathy, sepsis, and generalized signet-ring cell carcinomatosis. The patient had massive distension of the large and small intestines, a dilated thickened esophagus, and fibroneoplastic adhesions between intra-abdominal and thoracic structures. This case provides an observation, not previously described in cases of familial visceral myopathy, which is fibrosis and atrophy of the outer longitudinal smooth muscle of the small bowel, alternating to involve only the inner smooth muscle layer of the large bowel. This case shows how a malignant neoplasm can compound the pathology of familial visceral myopathy.- - - - - - - - - - ranking = 0.66666666666667keywords = muscle (Clic here for more details about this article) |
7/71. Acquired myopathic intestinal pseudo-obstruction may be due to autoimmune enteric leiomyositis.We describe a previously healthy boy who developed intestinal pseudo-obstruction following an episode of gastroenteritis at age 2 years. At presentation, the patient had mildly raised erythrocyte sedimentation rate and c-reactive protein level, and elevated antineutrophil cytoplasmic antibodies, antinuclear anti-dna, and anti-smooth muscle antibodies. His electrogastrography was myopathic with no dominant frequency. First full-thickness intestinal biopsies showed a T lymphocytic myositis, particularly in the circular muscle. Steroid therapy resulted in clinical remission; cessation of steroids, in relapse. Further full-thickness biopsies showed an initial reduction in alpha-smooth muscle actin immunostaining in circular muscle myocytes and later atrophy and disappearance of many myocytes. Vascular and the remaining enteric smooth muscle cells showed HLA-DR and intercellular adhesion molecule 1 expression. These observations demonstrate the ability of enteric myocytes to take part in an inflammatory response and to change their phenotype, allowing them to act as antigen-presenting cells and to activate T cells. This and possible cytokine production by the myocytes play a role in their own destruction. This process responded to immunosuppressive therapy.- - - - - - - - - - ranking = 1.6666666666667keywords = muscle (Clic here for more details about this article) |
8/71. Abnormal distribution of the interstitial cells of cajal in an adult patient with pseudo-obstruction and megaduodenum.interstitial cells of cajal (ICC) are fundamental regulators of GI motility. Here, we report the manometrical abnormalities and abnormalities of ICC distribution and ultrastructure encountered in a 30-yr-old patient with megaduodenum and pseudo-obstruction. Full thickness biopsies taken during laparoscopic placement of a jejunostomy showed vacuolated myocytes and fibrosis predominantly in the outer third of the circular muscle layer of the duodenum, suggestive for visceral myopathy. The distribution of ICC was also strikingly abnormal: by light microscopy, ICC surrounding the myenteric plexus were lacking in the megaduodenum, whereas ICC were normally present in the duodenal circular muscle and in the jejunum. By electron microscopy, very few ICC were identified around the duodenal myenteric plexus. These findings suggest that abnormalities in ICC may contribute to the disturbed motility in some myopathic forms of intestinal pseudo-obstruction.- - - - - - - - - - ranking = 0.66666666666667keywords = muscle (Clic here for more details about this article) |
9/71. Chronic intestinal pseudoobstruction ileus in a patient with rheumatoid arthritis: outcome of a stoma construction and its histopathological features.We report the first case of a chronic intestinal pseudoobstruction (CIPO) in a patient with rheumatoid arthritis (RA) in whom a stoma was constructed at the sigmoid colon to decompress intracolonic pressure. The treatment improved quality of life in this patient, suggesting that surgical resection of the colon to decompress intracolonic pressure would be one of the options for the treatment of intractable CIPO. The resected specimen obtained from the sigmoid colon was found to be palisaded, with nuclei crowded in some areas of the inner circular muscle layer and thickened, with zonal or focal myxoid regions with interstitial fibrosis, composed of collagenous and elastic fibers, in the outer longitudinal muscle layer. Some of the smooth muscle cells in the outer longitudinal muscle layer showed mild degeneration with cytoplasmic vacuolar changes, but no inflammatory changes. However, further studies are required to determine whether these histopathological changes are unique to RA.- - - - - - - - - - ranking = 1.3333333333333keywords = muscle (Clic here for more details about this article) |
10/71. intestinal pseudo-obstruction and urinary retention: cardinal features of a mitochondrial dna-related disease.The syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is a multisystemic disorder associated in most of the patients with an A to G transition at nucleotide position 3243 in the transfer rna (tRNA)Leu(UUR) (A3243G) of the mitochondrial dna. This syndrome is characterized by the preponderant involvement of skeletal muscle and central nervous system, but urinary or gastrointestinal symptoms are seldom documented. Here we report an unusual case of a 52-year-old woman with a clinical phenotype characterized by encephalopathy, left hemiparesis, urinary retention and gastrointestinal pseudo-obstruction. She had the classical A3243G mitochondrial dna point mutation of melas syndrome. We also present a clinically heterogeneous multigenerational pedigree with several affected members in the maternal lineage.- - - - - - - - - - ranking = 0.33333333333333keywords = muscle (Clic here for more details about this article) |
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