Application of ultrasound in a case of eosinophilic fasciitis mimicking stiff-person syndrome

Eosinophilic fasciitis (EF) is a rare disorder characterized by muscle stiffness mimicking other neuromuscular diseases. The diagnosis of EF is made on the basis of typical skin lesions. We report a case of a 36-year-old male patient with suspected stiff-person syndrome (SPS), who presented with progressive limb muscle stiffness and limited mobility of both wrists without obvious skin changes. Ultrasound revealed fascial thickening of bilateral upper and lower limb muscles and enlargement of hypoechoic tissues around the flexor digitorum tendons of the wrist. Skin and fascia biopsy confirmed the diagnosis of EF. Prednisolone therapy resulted in the improvement of muscle stiffness and tightness. Our findings suggest the need to consider connective tissue diseases such as EF in a patient with atypical features of SPS. Ultrasound is helpful for visualizing the causes of muscle stiffness and joint contractures in EF patients.     

Absence of persistent infection with enteroviruses in muscles of patients with inflammatory myopathies.

We searched for enteroviral nucleic acid sequences using the polymerase chain reaction and slot-blot hybridization in coded muscle biopsy specimens from 39 patients with active inflammatory myopathies (polymyositis, dermatomyositis, and inclusion-body myositis) and from 16 patients with other neuromuscular diseases, including patients with postpolio syndrome. For primers, we used sequences of the noncoding region at the 5' end of the viral RNA. We failed to detect specific enteroviral nucleic acid sequences in the muscle biopsy specimens. Because this sensitive technique can amplify even low copy numbers of the viral genome, it appears unlikely that a persistent enteroviral infection is the cause of inflammatory myopathies.     

The utility of muscle biopsy

Despite major advances in molecular genetics, histopathologic evaluation of muscle biopsy specimens continues to provide important diagnostic information in patients with suspected muscle diseases and in patients with vasculitic neuropathies. Muscle biopsy specimens are used in diagnosing many inherited as well as inflammatory and toxic myopathies. Furthermore, the study of muscle histopathology can also enhance our understanding of disease pathogenesis.     

Tubular aggregates. Their association with neuromuscular diseases, including the syndrome of myalgias/cramps

Tubular aggregates of muscle are distinctive structures seen in a wide variety of disorders. We reviewed 1,500 consecutive muscle biopsy specimens for the presence of tubular aggregates. Fifteen biopsy specimens (1.0%) were found with this abnormality. All patients were male, and seven had specific diagnoses based on clinical, biochemical, morphologic, and electrophysiologic criteria: hypokalemic periodic paralysis (two patients); hyperkalemic periodic paralysis (one patient); myotonia congenita (one patient); inflammatory myopathies (three patients). The remaining eight patients had a syndrome characterized predominantly by muscle pain and/or cramps, not necessarily precipitated by exercise. Although tubular aggregates constituted the predominant abnormality on muscle biopsy specimens in these cases, other mild, nonspecific changes were noted.     

Are hypercontracted muscle fibers artifacts and do they cause rupture of the plasma membrane?

Muscle fibers with hypercontracted zones (contractures) and plasma membrane defects are relatively frequent in Duchenne dystrophy, but artifacts might account for either. To investigate the problem further, we determined the frequency of hypercontracted muscle fibers in longitudinal, trichrome-stained paraffin sections in 143 muscle biopsy specimens in a wide variety of muscle diseases. The specimens were held at rest length during fixation. The incidence of hypercontracted fibers in Duchenne dystrophy was significantly higher than in any of the other diseases or in normal controls. We also induced contractures in rat muscle by fixation without restraint, electrical stimulation, and cutting the muscle fibers in vivo. Electron-microscopy showed no plasma membrane defects associated with the contractures, except in the cut fibers within 25 micron of their cut ends, which were probably overloaded with calcium. The results indicate that (1) in Duchenne dystrophy the contractures in muscle fibers held at rest length during fixation cannot be accounted for by artifact; (2) contractures occurring in normal muscle during fixation do not in and of themselves cause rupture of the muscle fiber plasma membrane.     

Peripheral neuropathy in the eosinophilia-myalgia syndrome associated with L-tryptophan ingestion

Eosinophilia, brawny induration, and tenderness of the skin and deeper tissues, and eosinophilic and lymphocytic infiltration of skin, deep fascia, and muscle characterize the acute eosinophilia-myalgia syndrome associated with ingestion of L-tryptophan. Many patients have a florid inflammatory myopathy. We evaluated 10 patients with this syndrome in whom peripheral neuropathy was a prominent or the only presenting feature. Two of these patients with severe neuromuscular disease required mechanical ventilation, and 1 died. Clinical severity appeared to be positively associated with the total dose of L-tryptophan ingested. Although the inflammation is generally thought to be more severe in skin, fascia, and muscle, inflammation, especially in the epineurium of sural nerve, was sometimes striking and often accompanied by vasculopathy and angioneogenesis. These cases draw attention to a new preventable syndrome with peripheral nerve involvement, emphasize the value of tissue biopsy for its diagnosis, and raise issues related to pathogenesis.     

Childhood macrophagic myofasciitis-consanguinity and clinicopathological features

Macrophagic myofasciitis has been almost exclusively detected in adults only. We describe six children of Arab Moslem origin with this disorder. Three presented with hypotonia, developmental delay and seizures and were evaluated for a mitochondrial disorder. The other three children had hypotonia and predominantly motor delay. Five of the six families were consanguineous. A massive collection of macrophages was present in the fascia and adjacent epimysium in all biopsies. The macrophages were periodic-acid-Schiff positive and immunoreactive for CD68. One biopsy which was evaluated by electron microscopy and energy-dispersive X-ray microanalysis showed crystalline structures containing aluminum in macrophages. Two children with motor delay and hypotonia were treated with oral prednisone for 3 months with no clinical improvement. Genetic predisposition probably accounts for the variability in the prevalence of macrophagic myofasciitis in different populations. At least in childhood, there seems to be no connection between macrophagic myofasciitis as a pathological entity and the clinical symptoms and signs.     

Expression of class I and class II MHC antigens in neuromuscular diseases

The distribution of HLA class I and class II antigens has been investigated in cryostat sections of a series of 200 skeletal muscle biopsy specimens from patients with various neuromuscular disorders. Normal muscle fibres expressed no detectable class I antigens, whereas muscle fibres of patients with inflammatory myopathies and Duchenne (DMD) and Becker (BMD) muscular dystrophy showed consistently strong expression. In other neuromuscular diseases expression of class I antigens was more variable. No expression of class I antigens was observed on muscle fibres in samples from fetuses "at risk" for DMD and BMD or from female carriers of these disorders. The immunocytochemical assessment of HLA class I antigen expression was confirmed by a quantitative radioimmunoassay which demonstrated a 3-fold increase in the level of expression in muscle samples from patients with DMD and juvenile dermatomyositis. Class II antigen expression was never observed on muscle fibres in biopsies from normal individuals or any of the neuromuscular disorders. However, these antigens were expressed by endothelial cells present in these samples. Muscle specimens from fetuses and early in postnatal life showed very limited expression of class II antigens. They were expressed at a reduced level by about 3 months of age, but strong expression of class II antigens was not observed until about 1 year of age. The mechanism of induction of class I antigen expression in diseased muscle is not known. The appearance of class I antigens on diseased muscle may make the affected tissue a target for cytotoxic T cells and may thus have a role in muscle fibre damage in inflammatory myopathies and the X-linked muscular dystrophies.     

A Case Report of the Angiosarcoma Involving Epicranial Muscle and Fascia : Is the Occipitofrontalis Muscle Composed of Two Different Muscles?

The occipitofrontalis muscle is generally regarded as one muscle composed of two muscle bellies joined through the galea aponeurotica. However, two muscle bellies have different embryological origin, anatomical function and innervations. We report a case of angiosarcoma of the scalp in a 63-year-old man whose MR showed that the superficial fascia overlying the occipital belly becomes the temporoparietal fascia and ends at the superior end of the frontal belly. Beneath the superficial fascia, the occipital belly of the occipitofrontalis muscle becomes the galea aponeurotica and inserts into the underside of the frontal belly. The presented case report supported the concept of which the occipitofrontalis muscle appears to be composed of two anatomically different muscles.     

多排螺旋CT对肾后筋膜内侧附着的解剖学评估

背景：在解剖学上，腹膜后间隙区域的筋膜解剖及其界限一直存有争议。正确理解腹膜后间隙的解剖，有助于准确评估病变的病因、性质，预测其蔓延的范围，以及指导该区域积液引流及肾移植等外科治疗。目前关于肾筋膜的解剖和内侧附着尚存争议，而多排螺旋CT可良好显示腹部的解剖结构。 目的：采用多排螺旋CT观察肾后筋膜内侧附着点的解剖情况。 设计、时间及地点：回顾性病例分析，于2003-06/2007-11在潍坊医学院附属医院影像中心完成。 对象：回顾性分析累及腹膜后间隙炎性病变病例52例的CT资料。 方法：应用Toshiba Akuilion16排螺旋CT进行扫描。52例病例中37例经手术/病理证实，15例经临床和实验室检查证实；其中阑尾炎17例，输尿管炎症1例，肾周间隙脓肿2例，肾旁后间隙脓肿3例，胰腺炎29例。 主要观察指标：观察双侧肾后筋膜的内侧附着点的解剖。 结果：在肾上极水平，双侧肾后筋膜内侧均附着于腰方肌筋膜。46例显示左侧肾后筋膜内侧在肾下极水平或锥下间隙水平附着于腰大肌筋膜外后方；50例显示右侧肾后筋膜内侧在肾下极水平或锥下间隙水平附着于腰大肌筋膜外后方。 结论：肾后筋膜的内侧附着点并不是固定不变的，在不同层面，肾后筋膜的附着点不同。     

DNA single-strand breaks are increased in muscle diseases with rimmed vacuoles

Some pathological similarities between Alzheimer’s disease and muscle diseases with rimmed vacuoles (RV) have been pointed out. For example, several pathological hallmark proteins have been reported to be immunopositive in the lesions of both diseases. Since apoptotic processes or primary DNA damage are suggested to play a role in the pathomechanism of Alzheimer’s disease, we examined DNA double-strand breaks (DSB) and single-strand breaks (SSB) in the muscle biopsy specimens of several diseases, including muscle diseases with RV. Although no DSB-positive myonuclei were detected in any muscles examined, the number of SSB-positive myonuclei markedly increased in the muscles from cases with polymyositis and muscle diseases with RV. In polymyositis, SSB-positive myonuclei were observed in regenerating fibers and muscle fibers in the vicinity of inflammatory infiltrates, suggesting that the increase of SSB is due to muscle fiber regeneration following necrosis and inflammation. In muscle diseases with RV, however, SSB-positive myonuclei were observed in small angulated fibers and in morphologically normal fibers, regardless of necrosis, regeneration or inflammation. These findings suggest that muscle diseases with RV may share a common pathological process involving DNA damage. Received: 30 August 1999 / Revised, accepted: 20 December 1999     

Inclusion body myositis: morphological clues to correct diagnosis

The aim of this study was to investigate variability of morphological changes found in patients with sporadic inclusion body myositis, to assess the diagnostic value of muscle biopsy. The study included all 43 definite inclusion body myositis patients (86 biopsies) diagnosed at Sahlgrenska University Hospital, Gothenburg, Sweden, between 1984 and 2000. Invasion of mononuclear inflammatory cells in non-necrotic muscle fibres was found in 72 of 86 specimens, while all investigated biopsies showed up-regulation of major histocompatibility complex class I. Cytochrome c oxidase-negative muscle fibres were demonstrated in 84 of 86 biopsies. Rimmed vacuoles were present in all specimens from the vastus lateralis and tibialis muscles, and in 43 of 51 biopsies from the deltoid muscle. In cases with clinical suspicion of inclusion body myositis, where the muscle biopsy does not show inflammatory cell infiltration and rimmed vacuoles, inclusion body myositis should still be considered if there are cytochrome c oxidase-negative fibres and up-regulation of major histocompatibility complex class I. In such cases repeat muscle biopsy may be helpful.     

Diagnosis of inflammatory myopathy; usefulness of 99mTc MDP scintigraphy and muscle MRI for determination of affected sites]

We studied the effectiveness of 99mTc-MDP (methylendiphosphate) scintigraphy in imaging inflammatory myopathy. The three subjects including 1 male and 2 female patients had high creatine kinase (CK) levels and proximal dominant muscle weakness. In whole body muscle surveillance by 99mTc-MDP scintigraphy, abnormal 99mTc-MDP accumulation was found in the extremities of all patients. The sites with high 99mTc-MDP accumulation showed high intensity on T2 weighted MR imaging, suggesting an inflammatory process. Muscle biopsy was performed on two patients from the muscles with the abnormal MRI findings, which showed the diagnostic finding of inflammatory changes. Because muscle involvement in inflammatory myopathy differs from muscle to muscle, it is sometimes difficult to choose appropriate muscle biopsy sites for diagnostic purposes. Affected muscles are more easily identified by using 99mTc-MDP muscle scintigraphy and muscle MRI, therefore, a correct diagnosis and choice of biopsy site can be made. 99mTc-PYP scintigraphy is permitted for use in myocardial infarction alone and 111In-antimyosin scintigraphy is not available in Japan. Therefore, we recommend 99mTc-MDP scintigraphy for diagnosis of inflammatory myopathy and for determination of muscle biopsy sites.     

颞区解剖特点及手术策略

目的列举常用的描述颞区解剖的术语,对颞区的解剖学特点进行详尽研究,并探讨颞区手术的策略,以优化颞区解剖策略,尽可能减少面神经额颞支损伤的机会.方法尸头10个(20侧),在手术显微镜下逐层解剖;在34例翼点开颅和11例经颧开颅手术中,运用特定的技术解剖颞区.结果所有经典定义的各层次在尸解中均可清晰辨认.所不同之处在于所有标本中颞深筋膜在整个颞区均可分为深浅两层,而非仅限于颞中脂肪垫存在处.事实上,在超出颞中脂肪垫以外的有些区域,尽管这两层结构变得极为薄弱,但均可用钝性剥离将其分离.在2例患者中发现颞中脂肪垫缺如.结论颞深筋膜在整个颞区均由深浅两层构成.颞中脂肪垫是临床实践中实施筋膜间解剖的重要标志,但绝非必不可少的标志,即使该脂肪垫缺如,仍可完成筋膜间解剖.     

Diagnostic evaluation of clinically normal subjects with chronic hyperCKemia

The authors analyzed muscle biopsy specimens of 104 patients with creatine kinase activity greater than 500 UI/L (normal 10 to 170 UI/L) without signs of muscle weakness. They achieved a definite or probable diagnosis in 55% of cases. The most frequently identified diseases were glycogen storage diseases, muscular dystrophies, and inflammatory myopathies. The probability of making a diagnosis was higher in children and when creatine kinase level was greater than 2,000 UI/L.     

Spectrum of inclusion body myositis

The clinical, laboratory, and biopsy features are described for a large group of patients with inclusion body myositis (IBM) (15 men and four women; mean age, 63 years). A quantitative histopathologic analysis of muscle biopsy specimens revealed less fiber necrosis and endomysial and perivascular inflammation in IBM than in polymyositis (PM) and dermatomyositis, but a more frequent occurrence of dark-angular and hypertrophied fibers. Rimmed vacuoles were present in 3.4% of all fibers and 15- to 18-nm filaments were identified in the biopsy specimens of nine of 11 patients. A panel of monoclonal antibodies immunoreactive with lymphocytes and cells of monocyte/macrophage lineage suggested that the inflammatory reaction in IBM was similar to that in PM (but not dermatomyositis) and mediated by cellular immune responses. These studies confirm the clinical and histopathologic distinctions between IBM and chronic PM, and that differentiation between these disorders is often difficult.     

Human immunodeficiency virus-associated myopathy: analysis of 11 patients

Neuromuscular disorders reported in association with human immunodeficiency virus (HIV) infection include several forms of peripheral neuropathy and polymyositis. We report 11 patients with HIV-associated myopathy. Five patients with acquired immunodeficiency syndrome (AIDS), 2 with AIDS-related complex, and 4 otherwise asymptomatic HIV-infected patients developed progressive proximal muscle weakness. Serum creatine phosphokinase levels were elevated and electromyography revealed abnormal spontaneous activity and myopathy in most patients. All 8 muscle biopsy specimens showed fiber necrosis. Four had inflammatory infiltrates, and nemaline rod bodies were prominent in 3. Immunosuppressant therapy in 5 patients resulted in improvement. Attempts at viral localization in 4 muscle biopsy specimens were unsuccessful. These findings suggest a distinct association between HIV infection and myopathy with features atypical for polymyositis.     

Extrajunctional acetylcholine receptors. Alterations in human and experimental neuromuscular diseases.

Diffuse extrajunctional acethycholine receptors (AChR) of skeletal muscle fibers were readily visualized by light and electron microscopy in muscle biopsy specimens of experimental denervation and human denervating diseases by use of an alpha-bungarotoxin immunoperoxidase technique. In peripheral neuropathies and various motor neuron diseases, a significant number of muscle fibers appearing denervated by histochemical criteria have diffuse extrajunctional AChR like those experimentally denervated by cutting the motor nerve supply. In portions of muscle fibers experimentally deprived of neuronal influence by direct injury, diffuse extrajunctional AChR developed, demonstrating that a denervation-like diffuse appearance of extrajunctional AChR can develop other than with neuronal damage, ie, it can be myogenous. Similar extrajunctional AChR was seen in some regenerating fibers of human myopathies, especially inflammatory myopathies.     

Activities of some antioxidative and hexose monophosphate shunt enzymes of skeletal muscle in neuromuscular diseases

The activities of some antioxidative and hexose monophosphate shunt enzymes, as well as of 2 hydrolases were studied in skeletal muscle biopsy specimens taken from 39 patients with neuromuscular diseases and from 15 controls. The activity of Se-dependent glutathione peroxidase was higher in patients with congenital myotonia, whereas in the other diagnostic groups this enzyme activity was the same as in the controls. The Se-independent and total glutathione peroxidase activity of patients in the various diagnostic groups did not differ from the controls. Moreover, no difference were observed in catalase activity between the patient groups and the controls. The activities of the rate limiting enzymes of hexose monophosphate shunt, glucose-6-phosphate dehydrogenase and 6-phosphogluconate dehydrogenase of muscle biopsy samples of various patient groups did not show any significant difference from controls. The activity of a lysosomal hydrolase, beta-N-acetylglucosaminidase, was increased in patients with polyneuropathy and the activity of a nonlysosomal protease, alkaline protease, was high in patients with Charcot-Marie-Tooth disease. The activities of Se-dependent glutathione peroxidase, 6-phosphogluconate dehydrogenase and of both hydrolases showed a significant correlation to the magnitude of muscle atrophy.