[Imaging procedures in neuromuscular diseases].
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Biomedical subjects
Publications and source records attributed to C D Reimers.
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Limb and trunk muscles of 57 patients with the juvenile or adult form of myotonic dystrophy were studied by imaging techniques (ultrasound, computed tomography, magnetic resonance imaging). Typical findings were atrophy of the tibialis anterior and triceps brachii muscles and fatty degeneration of the vastus intermedius, sartorius, tibialis anterior and soleus muscles as well as of medial head of the gastrocnemius muscle. Magnetic resonance imaging was the most sensitive technique in depicting mesenchymal muscle alterations, followed by computed tomography and ultrasound. The data support that imaging is more sensitive in detecting the myopathy than measurement of the creatine kinase activity.
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We report about two female patients with a histopathological proven granulomatous myositis associated with a fasciitis. One patient showed noncaseating granulomas in the muscle fascia. She suffered from symmetrical contractures of the digital flexors and ankles. The second patient showed uveitis and polyneuropathy, too. In addition, increased activities of the angiotensin-converting-enzyme and lysozyme in the sera suggested that both cases represent a new form of sarcoidosis.
Myositis was proven histopathologically in 4 patients (age range 36-66 years) who suffered from early or late stages of Borrelia burgdorferi infection. Muscle weakness was present in 3 patients, 1 complaining of additional myalgias. One man came to medical attention because of skin discoloration and swelling of one leg. Deep biopsy from skin, fascia and muscle revealed acrodermatitis chronica atrophicans, panniculitis, fasciitis, and myositis, respectively. Creatine kinase was slightly elevated in 3 cases and normal in one. Infiltrates were found in the perimysium and within the muscle bundles, mainly around small vessels. The infiltrates consisted of many B cells and T4 lymphocytes with fewer cytotoxic T cells, suggesting that Borrelia myositis might be due to a local immune response to unknown Borrelia antigens. Cultivation of Borrelia from muscle was not successful. Antibiotic therapy cured the myositis.
The frequencies of HLA A, B, C and DR antigens were evaluated in 220 persons from West Germany with inapparent and manifest Borrelia burgdorferi infections. Thirty-seven forest workers showing elevated antibody titres against Borrelia burgdorferi had asymptomatic infection, and are described as stage 0. One hundred and eighty-three patients presented with the clinical stages 1-3 of the infection. Control persons (n = 655) were typed in the same time period and by identical staff. HLA CW3 was present in 36.3% of patients as compared to 23.2% of the controls (RR = 1.88, pcorr = 0.03) and was significantly associated with manifest infection. In addition, the antigen A2 was found slightly but not significantly more frequent in the patients (55.2% vs 44%; pcorr = 0.41). The phenotype combination HLA A2 and Cw3, however, was significantly elevated in patients (24.6% vs 10.8%; pcorr = 0.0005). In contrast to these class 1 antigens, HLA DR3 showed a tendency of negative association with manifest infection. But this finding was not yet found to be significant (15.3% vs 25.3%; RR = 0.53, pcorr = 0.26). The frequency of HLA DR2 showed a constant decrease from stage 0 to stage 3 (inapparent infection to late complications). Using the rank correlation coefficient of Spearman, this association was found to be significant (-1.00, p less than or equal to 0.05). All other tested HLA antigens and antigen combinations showed no significant differences. The data suggest that HLA CW3 may be associated with Borrelia burgdorferi infection, whereas HLA DR2 and DR3 may be associated with less incidence of severe courses and less complications in this disorder.
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Fasciculations are an important neurological sign of spinal muscular atrophies. 26 patients able to walk suffering from adult onset spinal muscular atrophies were examined by real time sonography. On an average 18 limb and extremity muscles on both sides were examined. In 21 cases fasciculations became sonographically apparent as muscular twitchings lasting for 0.2 to 0.5 seconds. Detection of fasciculations in profound muscular layers and in obese patients was easier by sonography than by clinical examination.
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A 55 years old patient suffering from exercise-induced muscle pain and stiffness due to primary myoadenylate deaminase deficiency has been successfully treated with D-ribose since 1984: single doses of 4 grams administered at the beginning of exercise prevented the symptoms completely; on continuation of exercise this dose had to be repeated all 10-30 min. Total doses of 50-60 g per day were tolerated without side-effects.
Neurological complications resulting from pronounced cerebrovascular changes were observed in a 59-year-old female suffering from Grönblad-Strandberg syndrome. In addition to typical skin changes of the pseudoxanthoma elasticum and ocular alterations (exudative macular degeneration and angioid streaks) there were an unusual number of disturbed endocrinological functions. The ophthalmological findings revealed characteristic breaks in Bruch's membrane, proliferation of chorioidal vessels into the subretinal space, hyperplasia of retinal pigment epithelium and disciform macular degeneration. Postmortem examination of the brain showed multiple cerebral infarcts due to recurrent disturbances in cerebral blood supply and particularly pronounced changes in the elastica interna of many cerebral arteries. Although the observed neurological signs in our patient were not characteristic of Grönblad-Strandberg syndrome, the histopathological findings led to the assumption that the same basic mechanisms result in alterations of elastic fibres and collagen, mainly in the ocular-cerebral system.
Attempts were made to treat 50 patients suffering from various types of chronic pain with SCS (PISCES). In 33 patients the test stimulation was successful so that an implantation of the system was carried out. After a minimum observation period of two years, only six patients still reported satisfactory alleviation of pain. A more careful selection of patients suffering from different types of pain would appear to be the pre-requisite for better results.
Various studies in the United States and Europe have established human leucocyte antigens (HLA) Cw3, DR2 and DR4 as risk factors for manifest Borrelia burgdorferi infection or the development of chronic courses of Lyme disease. Other studies failed to confirm these findings. In the present study the frequencies of HLA A, B, Cw and DR were analysed in 283 persons from Austria and Germany with manifest B. burgdorferi infection. No statistically significant differences were found between patients and the control groups with regard to the frequencies of particular HLA antigens, nor were differences in antigen frequencies in the patients with manifestations of different stages of disease significant. Furthermore, a statistical re-evaluation of all the European studies failed to confirm particular HLA antigens as risk factors for B. burgdorferi infections to become manifest or chronic.
Muscular imaging (sonography, computed tomography, magnetic resonance imaging) has proved to be worthwhile for myologic diagnostic purposes during the past few years. In 319 patients suffering from generalized neuromuscular diseases, muscle atrophies or hypertrophies and the degree and distribution of mesenchymal alterations in skeletal muscles were documented. The various imaging techniques were of assistance defining the optimal biopsy site, and the preparation of electro-myographic examinations. Real time sonography proved to be the method of choice for screening purposes and for documentation of fasciculations. Because of higher sensitivity and superior depiction of soft tissue pathology, magnetic resonance imaging supported the further diagnostic work-up in certain cases. Because of irradiating side effects, computed tomography was applied just for evaluation of muscle involvement in advanced stages of neuromuscular diseases in adults.
Inflammatory myopathies are rare diseases with an annual incidence of about 1-8 per 1 million persons. However, they are of special importance in myology as they can be treated successfully. There are auto-immune mediated and infectious forms of myositis. From the clinical and myopathological view, one can distinguish acute and chronic forms: the former presenting with distinct inflammatory reactions in the muscle tissue and often causing myalgia. Muscle atrophy, the latter presenting with marked muscle weakness, often with clear muscle atrophy and mesenchymal abnormalities in the biopsy. Ultrasound well documents muscle atrophy, sometimes compensatory hypertrophy, as well as mesenchymal abnormalities such as lipomatosis and fibrosis. In very acute myositis, as in pyomyositis muscle edema and abscesses can be depicted. Typical findings in autoimmune mediated myositis are reported based on our own experiences in 75 patients and according to the literature. The degree and distribution of muscle atrophy and mesenchymal abnormalities visualized by ultrasound can give clues to the type and prognosis regarding muscle function. Additionally, ultrasound can be used for searching the optimal biopsy site.