1/27. X-linked myopathy with excessive autophagy: a clinicopathological study of five new families.In 1988, Kalimo et al. (Ann Neurol 23 (1988) 258)described a new type of X-linked myopathy in a Finnish family. The clinical course was characterized by slow progression of muscle weakness without loss of ambulation in childhood and no evidence of cardiac, respiratory, or central nervous system involvement. Muscle fibers were not necrotic and showed excessive autophagic activity and exocytosis of the phagocytosed material. These authors proposed the name X-linked myopathy with excessive autophagy. Subsequently, only one French family has been reported with similar clinical and histopathological data. We report here five new families with a total of eight affected boys with the same clinical and histopathological features as reported in the original families. Histopathological findings of an asymptomatic mother are also reported. Vacuolar changes in muscle fibers result both from invaginations of the sarcolemma along with a variable component of basal lamina and from an autophagic process. The complement c5b-9 membrane attack complex associated with MHC class 1 antigen and calcium deposits is involved in muscle fiber damage. Among the X-linked myopathies, the identification of this new type is of great interest because of its favorable prognosis and unique morphological findings.- - - - - - - - - - ranking = 1keywords = prognosis (Clic here for more details about this article) |
2/27. femoral neuropathy and ischemic colitis associated with amyloidosis in hemodialysis patients.Renal failure is often the presenting problem with amyloidosis and it portends a generally poor prognosis. Two of 121 patients in a home dialysis program were found to have amyloidosis after they developed unusual complications, ischemic colitis and femoral neuropathy. Both ultimately died as a result of their disease. From the limited experience that is reported, it appears that renal transplantation offers a better alternative for long term therapy than hemodialysis.- - - - - - - - - - ranking = 1keywords = prognosis (Clic here for more details about this article) |
3/27. Hoffman's syndrome: pseudohypertrophic myopathy as initial manifestation of hypothyroidism. Case report.The frequency of myopathy in hypothyroidism ranges from 30 to 80%. The major symptoms related are weakness, muscular cramps and myalgia. The pseudohyperthrophic form is called Hoffman's syndrome. The electrophysiological study reveals myopathy, neuropathy or mixed pattern. Laboratorial investigation generally shows increased levels of muscle enzymes and low serum thyroid hormones, with thyrotrophic-stimulating hormone (TSH) elevated. The treatment consists in hormone replacement and the prognosis is good in most of the cases. We report an adult male who developed muscular cramps, myalgia, weakness, pseudohyperthrophy, associated with facial edema and alteration of his voice. The muscle enzymes were increased and T4 was undetectable with a raised level of TSH. The myopathy was the initial manifestation of hypothyroidism in this case.- - - - - - - - - - ranking = 1keywords = prognosis (Clic here for more details about this article) |
4/27. Amyopathic dermatomyositis.Amyopathic dermatomyositis (ADM) is a rare condition characterized by skin lesions suggestive of dermatomyositis (DM) without detectable muscle abnormalities after at least 2 years of follow-up. pulmonary fibrosis is uncommon in patients with ADM. CASE REPORT: A 64-year-old woman presented with a 2 years and 6 months history of nondestructive polyarthritis. She had skin changes suggestive of DM, including a pink rash over the face, neck, and forearms; Gottron's papules over the metacarpophalangeal joints; and heliotrope edema of the eyelids. She reported no muscle symptoms. Findings were normal from muscle enzyme assays, electromyography, and muscle biopsies. A diagnosis of ADM was given. Early lung fibrosis was found. Investigations for a tumor were negative. DISCUSSION: ADM is a rare condition that may be an abortive form of DM with a favorable outcome and a lower risk of malignancy compared to classic DM. However, the development of pulmonary fibrosis may cloud the prognosis.- - - - - - - - - - ranking = 1keywords = prognosis (Clic here for more details about this article) |
5/27. A case of fusariosis in an immunocompromised patient successfully treated with liposomal amphotericin b.Although aspergillosis remains the most common mould infection in patients with haematologic malignancies, disseminated fusarium infection is an emerging problem with a poor prognosis in this patient population. The treatment options are limited due to relative resistance of the fungus to standard antifungals. We present a patient with acute lymphoblastic leukaemia successfully treated with AmBisome for a disseminated fusarium solani infection that did not respond to first line treatment with voriconazole. Despite the fact that he received additional myelosuppressive chemotherapy and underwent two stem cell transplantations from HLA mismatched donors the fusarium infection did not recur during the subsequent phases of neutropenia. The clinical presentation, diagnosis, prognosis and therapeutic options of fusariosis in immunocompromised patients are briefly discussed.- - - - - - - - - - ranking = 2keywords = prognosis (Clic here for more details about this article) |
6/27. Streptococcal myositis as a complication of juvenile dermatomyositis.The infection of muscle is an infrequent condition. We report on a patient with a juvenile form of dermatomyositis who developed infectious myositis caused by streptococcus pyogenes. The inflammatory myopathy probably favoured the colonization of muscle during a bacteremia related to the skin lesions. The main forms of streptococcal myositis, which can currently be differentiated by means of imaging techniques, are discussed in addition to its treatment and prognosis.- - - - - - - - - - ranking = 1keywords = prognosis (Clic here for more details about this article) |
7/27. Non-Hodgkin's lymphoma arising in skeletal muscle.Four patients with non-Hodgkin's lymphoma who presented with clinical enlargement of muscle are reported. In three patients the only site of disease was muscle. Two patients with involvement of the paraspinal muscles demonstrated neurological complications due to spinal nerve root entrapment. A review of the literature emphasises the rarity of primary muscle lymphoma and suggests that disease arising at this site may confer a poor prognosis.- - - - - - - - - - ranking = 1keywords = prognosis (Clic here for more details about this article) |
8/27. Congenital fiber type disproportion: report of one case.Congenital fiber type disproportion (CFTD) is described clinically as muscle weakness and hypotonia with delayed motor development, usually from infancy. Muscle biopsy reveals that type 1 fibers predominate and smaller than type 2 fibers by a margin greater than 12% of the diameter of the type 2 fibers. There are no other subcellular abnormalities, and generally prognosis is good. The CFTD case is a six-month-old girl who manifested clinically as a floppy infant. A biopsied specimen from the left biceps brachii muscle revealed type 1 fiber predominance and hypoplasia with an increased number of undifferentiated type 2C fibers. Electromyogram, nerve conduction velocity and serum creatine kinase level were normal. The child learned to walk without assistance at 1 year 7 month old. Now 2-years and 10-months old, she can climb stairs without difficulty, although she cannot run fast.- - - - - - - - - - ranking = 1keywords = prognosis (Clic here for more details about this article) |
9/27. Paravertebral polymyositis.Pains in the back are usually of vertebrogenic etiology, though such discomfort can be caused by a primary muscular involvement as well - polymyositis of paravertebral muscles. Five patients were studied in the present investigation with this quite rare disease. Four of them had the diagnosis confirmed by histology, the last patient could not have the biopsy performed as she was already on a successful corticosteroid therapy. Histopathology of the muscles demonstrated a polymyositis of the parenchymatous type. Owing to a considerable polymorphism showed by the troubles and often also coincidence with the vertebrogenic component, the diagnosis and classification of primary chronic polymyositis face a series of difficulties. The disease becomes clinically manifested by muscle pain, both spontaneous and on palpation, atrophies and frequent muscle contractions. These symptoms can then result in disorders affecting the dynamics and statics of the spine. The possible participation of repeated microtraumas as one of the factors contributing to the origin of polymyositis is also discussed on the present study. The disease is treated in the same way as most of the other collagenoses, the primary chronic forms showing a much more favourable prognosis than the secondary chronic ones developing from acute and subacute forms.- - - - - - - - - - ranking = 1keywords = prognosis (Clic here for more details about this article) |
10/27. femoral neuropathy from iliac muscle hematoma complicating anticoagulant therapy: a surgical emergency. Report of a case.A case of femoral neuropathy from iliac muscle hematoma occurring during heparin administration, successfully treated by early surgical decompression is reported. Following the evaluation of anatomy, possible pathogenesis and CT scanning findings, the role of early diagnosis is emphasized in the assessment of prognosis and for successful operative decompression.- - - - - - - - - - ranking = 1keywords = prognosis (Clic here for more details about this article) |
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