1/5. A case of McLeod syndrome with unusually severe myopathy.A 51-year-old man developed weakness and muscle atrophy in the legs at the age of 41, later followed by choreiform involuntary movements. Neurological and laboratory examinations revealed severe muscle weakness and atrophy, and areflexia in all the extremities, acanthocytosis and an elevated serum creatine kinase level. Together with these findings, the weak expression of Kell blood group antigens and the absence of the Kx antigen led to a definite diagnosis of McLeod syndrome for his condition. brain magnetic resonance imaging revealed marked atrophy of the head of the caudate nuclei. Although immunocytochemical analysis of dystrophin in muscle specimens from our patient revealed normal staining, we found prominent fiber size variability, central nuclei, and connective tissue proliferation as well as necrotic and regenerating fibers, which are as a whole compatible with the myopathology of muscular dystrophy. Moreover, muscle computerized tomography of the lower extremities revealed the 'selectivity pattern' characteristically reported in muscular dystrophies including Duchenne type muscular dystrophy. The muscular symptoms and pathology in McLeod syndrome have been reported to be mild, but the present case clearly shows that the muscular features in this condition may be much more severe than previously thought.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
2/5. Motor weakness and cerebellar ataxia in Sjogren syndrome--identification of antineuronal antibody: a case report.We report here a combination of rare neurological manifestations of primary Sjogren syndrome (SS), such as motor-dominant motor weakness of peripheral origin, cerebellar ataxia and depression, in a Japanese female patient. An autoantibody in her serum and cerebrospinal fluid immunolabelled spinal motor neurons and cerebellar purkinje cells. On Western blot, this antibody reacted with a protein of 34 kDa from the extract of spinal cord, dorsal root ganglion, or cerebellar cortex, which might correspond to motor weakness and cerebellar ataxia, respectively. The absence of its reactivity to the liver tissue indicates that this autoantibody targets an antigen represented exclusively in the neural tissues. Although it remains to be proved how autoantibodies, sometimes associated with SS, are involved in the development of clinical pictures, some of them are present in the cerebrospinal fluid and exhibit an exclusive affinity to neural tissues, which indicates its plausible link to neurological manifestations. Recognition of these antineuronal antibodies in SS will potentially provide a chance to treat these patients by removing or inactivating the antibody.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
3/5. osteoporosis with underlying connective tissue disease: an unusual case.A 44-year-old male was initially seen by dermatologists, who noted an erythematous rash on sun-exposed areas, the back, shoulders, and upper arms. There was associated muscle weakness and significant weight loss. Investigation revealed mildly raised aspartate and alanine transaminases but normal creatine kinase. Inflammatory indices and antinuclear antibodies (ANAs) were normal. biopsy of the rash was reported as consistent with either dermatomyositis (DM) or acute lupus erythematosus. A diagnosis of DM was made, and prednisolone was given with improvement of the rash but deteriorating myopathy. The patient was referred to the rheumatology department, and further history revealed multiple vertebral fractures after falling from standing height; these had occurred six months prior to starting steroids. Besides smoking he had no other risk factors for osteoporosis. Examination showed normal muscle strength, no muscle tenderness, and no joint abnormality. Repeat muscle enzymes were normal, and ANAs were now 1 : 100, but dsDNA antibodies and extractable nuclear antigens were normal. Investigations for osteoporosis revealed a hypergonadotrophic hypogonadism picture. Further examination indicated scanty pubic and auxiliary hair, small testicles, and mild gynecomastia. He is married, though has no children of his own. The hormonal profile raised the possibility of Klinefelter's syndrome, which was subsequently confirmed with karyotyping of 47 XXY. hypogonadism has been established as a cause of osteoporosis in males, and in this case would explain the occurrence of fractures in the absence of other major risk factors. Systemic lupus erythematosus has been recognized in association with Klinefelter's syndrome; in view of the normal muscle enzymes, his rash is most likely due to acute discoid lupus with androgen deficiency causing muscle weakness.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
4/5. Palpebral ptosis and muscle fatiguability associated with perineurial cell ensheathment of muscle fibers: a new disease of the neuromuscular junction?Perineurial cell ensheathment of muscle fibers has been reported only in one patient. Here we describe a new case with identical morphologic features and a similar, but milder clinical course characterized by progressive muscle weakness and bilateral palpebral ptosis. EMG examination (including repetitive stimulation) and antibodies against acetylcholine receptors were normal. Muscle biopsy revealed several muscle fibers encircled by stratified rings of homogeneous material in which elongated nuclei were visible; this material was positively stained by antibodies directed at epithelial membrane antigen. On ultrastructural examination these encircling-fiber spirals had the characteristics of perineurial cells. It is not clear yet whether perineurial cell ensheathment of muscle fibers is an occasional feature, or whether it has a pathogenetic role in the clinical picture of both cases. The perineurial sheaths might alter the correct neuromuscular transmission mimicking a myasthenia-like disease, either by interfering with the neuromuscular junction, or by changing the microenvironment, and, thus, altering the general excitability of the muscle fibers.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
5/5. Localized muscle wasting as an initial symptom of skeletal muscle lymphoma.A 25-year-old man who developed painless muscle wasting and weakness of only the right thigh, was eventually shown to have systemic lymphoma with muscle infiltration. The patient was initially misdiagnosed as focal inflammatory myopathy, and he had a partial response to steroid therapy. Immunohistochemical analysis of the biopsied muscle and the subcutaneous tumor revealed the infiltrating cells with a positive macrophage-associated marker (CD68) and negative T- or B-cell-associated antigens, leading to the final diagnosis of true histiocytic lymphoma. Although skeletal muscle lymphoma is extremely rare, it should be considered in the differential diagnosis of localized muscle wasting.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |