A patient with neuroborreliosis presenting gadolinium-enhanced MRI lesions in bilateral facial nerves]

We report a 33-year-old man with bilateral facial paralysis due to neuroborreliosis. About three weeks after rhinorrhea and fever lasting four days, he noticed fatigue in the legs and paresthesia in all four extremities. Another week later, he developed paresthesia in his tongue and bilateral facial muscle weakness, and was admitted to our hospital. On admission, neurological examination revealed moderate bilateral facial muscle weakness, mild paresthesia in the tongue and four extremities, and decreased Achilles tendon reflex bilaterally. Mild pleocytosis and increased protein were found in the cerebrospinal fluid (CSF). IgM antibodies that reacted with the antigens of Borrelia garinii and Borrelia afzelii were found in his serum. Clinically and serologically, he was thus diagnosed as having neuroborreliosis. Brain MRI revealed gadolinium-enhanced lesions of the bilateral facial nerves in the facial nerve canal portion. After three weeks of treatment with 100 mg/day doxycycline and 2 g/day ceftriaxone sodium, his symptoms and CSF abnormalities were rapidly improved. Although facial nerve paralysis is a major symptom of neuroborreliosis, the present report is the first to detect the inflammatory lesions of the facial nerves in the facial nerve canal portion by MRI.     

Ultrasound imaging of the muscle in muscular dystrophy

Ultrasound imaging of muscle was performed on 40 patients of Duchenne muscular dystrophy on lower and upper extremities. In the control subjects, there was good visualization of bone and fascia with echo-free muscle tissue. With progression of the disease, the muscle echo was increased with corresponding loss of fascia echo in muscular dystrophy. A few advanced cases showed relatively echo-free muscle because of diffuse adipose tissue infiltration. Ultrasound imaging can reveal the muscular lesion and its distribution, and is valuable for monitoring the progression of the disease.     

Myositis caused by Borrelia burgdorferi: report of four cases

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.     

A child case of atypical chronic fasciitis--diagnostic usefulness of muscle CT scan

Eosinophilic fasciitis is an uncommon disorder characterized by peripheral blood eosinophilia, hypergamma-globulinemia, and inflammation of fascia and skin. Its typical symptom in the acute stage includes muscle pain and swelling, followed by slowly progressive joint contractures. We report an 11-year-old girl with pathological diagnosis of chronic fasciitis, probable eosinophillic fasciitis. Her first symptom was chronic symmetrical joint contractures, which developed when she was 4 years old. She had atypical course as compared with patients described in literature, lack of acute symptom and very early onset of the disease. Her muscle CT scan revealed very fibrotic fascia, which might be responsible for joint contractures. Muscle and fascia biopsies were performed to confirm the diagnosis. The fascia was very fibrotic containing mononuclear cell infiltration, compatible with a chronic stage of eosinophilic fasciitis. In conclusion muscle CT scan is useful for differential diagnosis of this disorder in patients presenting with chronic symmetrical joint contractures, but without acute inflammatory symptom.     

Pathology of eosinophilic fasciitis and its relation to polymyositis

The anatomical substrate of eosinophilic fasciitis (EF) was studied in 15 muscle biopsy specimens of this disease, six of which included the dermis and subcutaneous tissue. As controls, 94 postmortem muscle specimens from patients dying of non-muscular diseases were used. Of these 94 specimens, 22 (23.4%) showed practically no deep fascia and 72 specimens showed a single dense bundle of collagen with no distinction between deep fascia and epimysium. The 15 specimens of EF showed thickening and inflammatory infiltration of varying degrees in the deep fascia, epimysium, perimysium, endomysium and also in muscle. We conclude that the anatomical substrate of EF is not confined to the deep fascia, but involves other structures including mysia and muscle itself. Most reported cases of EF in the literature do not even describe muscle. A comparative study of 15 biopsy specimens of polymyositis and dermatomyositis with those of EF revealed only quantitative differences in the histopathological changes of muscle and mysia, inflammatory infiltrate and eosinophilia. We suggest that the diseases are more closely related than previously recognized.     

A case of limb-girdle type myasthenia gravis in whom rheumatoid arthritis appeared immediately after thymectomy]

We report a 48-year-old female who presented limb-girdle type myasthenia gravis with inflammatory lung lesions and rheumatoid arthritis. She demonstrated a rapidly progressive muscle weakness of extremities. Neurological examination revealed facial muscle weakness, and proximal dominant limb muscle atrophy and weakness. Ptosis, ophthalmoplegia, and bulbar palsy were not observed. The edrophonium test and serum anti-acetylcholine receptor antibody were positive. The repetitive nerve stimulation showed 55% waning in the thenar muscles. From these findings, she was diagnosed as having myasthenia gravis. Plain chest X-P and body CT showed tumor-like lesions in the lung. Lung biopsy revealed the infiltration of lymphocytes. These lesions decreased in size after thymectomy and corticosteroid administration. Immediately after thymectomy, she began to have morning stiffness with pain and swelling of the finger and knee joints. RAHA test, which was negative before thymectomy, became highly positive. These findings were consistent with rheumatoid arthritis. In this patient, thymus probably played a role to suppress the development of rheumatoid arthritis.     

A thyrotoxic myopathy accompanied with unusual muscle symptoms and MRI muscle findings]

We report a patient with thyrotoxic myopathy associated with unusual muscle symptoms. A 29-year-old man developed hyperhidrosis, diarrhea, increase in appetite, and excitability in July, 1999. In August, he experienced muscle stiffness in bilateral lower extremities after maintaining postures such as driving a car or sitting on a chair. He was admitted to our hospital, in January, 2000. On physical examination, goiter was noted. Neurological examination was normal except for proximal muscle weakness. Laboratory test showed elevated free T3 and free T4, decreased TSH. TSH receptor antibody was increased. MRI of lower extremities revealed atrophy of bilateral biceps femoris. Muscle strength increased gradually after an oral administration of thiamazole 30 mg/day, and muscle stiffness disappeared. The clinical features of this patient and differential diagnosis were discussed.     

Eosinophilic perimyositis as the presenting feature of a monoclonal T-cell expansion

A 51-year-old physically active man was investigated for exertional myalgias and muscle stiffness. On examination he had mild proximal muscle weakness of the upper extremities and retraction of the digit flexors. Blood eosinophilia was present, but serum creatine kinase (CK) levels and an electromyographic study were normal. A skin-fascia-muscle biopsy of the calf revealed a macrophagic and CD4+ T-cell infiltration of the perimysium, and a T-cell expansion was observed in blood, bone marrow, and muscle. A diagnosis of eosinophilic perimyositis was made, and prednisone and azathioprine were administrated with a good clinical response. This case highlights the differential diagnosis of blood eosinophilia with muscle disorders, and underscores that eosinophilic perimyositis may be the expression of a T-cell monoclonal expansion. Although the pathogenesis behind the T-cell expansion is unclear but probably inflammatory, we suggest regular follow-up to allow early treatment of any T-cell lymphoproliferative malignancy that may develop.     

Eosinophilic fasciitis and the carpal tunnel syndrome.

Eosinophilic fasciitis is characterised by induration and inflammation of the fascia of the extremities. It is a nosologically distinct clinical entity typified by swelling, tenderness, and stiffness of the extremities associated with peripheral eosinophilia. Six of our eight patients with eosinophilic fasciitis seen in a 3 1/2 year period have had an associated carpal tunnel syndrome. The presenting complaints in three patients were those of carpal tunnel syndrome and in the other three patients were muscle aching, swelling, and tightness. Diagnosis was made by EMG and deep fascial biopsy. Although small doses of corticosteroid medications were helpful initially in five of the six patients, two patients later required surgical decompression.     

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.     

HTLV-I associated myelopathy (HAM) and sarcoid myopathy]

A 65-year-old house-wife developed dirty erythematous rash on her face in April, 1989. Almost simultaneously, she complained of muscle soreness and weakness on both lower extremities. Pathological findings of the skin biopsy at that time was consistent with those of sarcoidosis with moderate inflammatory cell infiltration. In December, 1989, when she was admitted to our hospital, her lower extremities were paretic with marked spasticity, and mild bladder dysfunction was noted. HTLV-I antibody titers in serum and cerebrospinal fluid were significantly elevated. Biopsied limb skeletal muscle revealed the findings of the sarcoid myopathy with small inflammatory cell infiltration in endomysium. HLA haplotypes showed A24, B7, BW61, CW7, CW8, DR1 and DR4 which show relatively common types of those in HAM. Corticosteroid treatments including the methylprednisolone pulse therapy healed the skin lesion, but did not improve her neurological signs. Paraplegia and urinary disturbance were progressive. It is concluded that the inflammatory sarcoid myopathy with HAM in this patient may be caused by a common abnormal immunological background.     

Nephrogenic systemic fibrosis presenting as myopathy: A case report with histopathologic correlation

Nephrogenic systemic fibrosis is primarily a skin disorder associated with renal insufficiency and exposure to gadolinium-containing (GAD+) contrast. We present the case of a 64-year-old man who was exposed to gadolinium while in acute renal failure, and months later developed limb stiffness, proximal weakness, and woody muscle texture. Muscle biopsy demonstrated chronic non-inflammatory fibrosing myopathy. CD34+ fibroblasts have previously been reported to be specific for nephrogenic systemic fibrosis dermopathy, and we found these in fibrotic areas of muscle and fascia. Nephrogenic systemic fibrosis is an emerging disorder, and our case highlights that it may present as a progressive myopathy with minimal skin findings.     

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.     

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.     

Localized scleroderma and regional inflammatory myopathy

Inflammatory myopathy is rare in localized scleroderma. We report 2 new cases of regional inflammatory myopathy associated with localized scleroderma and review 10 reported cases of localized scleroderma associated with an inflammatory myopathy with regional muscle involvement, more often in the upper extremities. Serum creatine kinase was mildly elevated or normal. Histopathology often showed perimysial inflammation and plasma cell infiltration. These cases demonstrate that inflammatory myopathy should be considered in patients with localized scleroderma and regional muscle weakness, pain or atrophy. Muscle biopsy can confirm the diagnosis of myositis, which if identified, will require anti-inflammatory and/or immunosuppressive therapy.     

A patient of polymyositis with severe myocardial damage and conduction block]

A patient with polymyositis manifesting severe myocardial damage and conduction block is described. A 57-year-old man presented dysarthria, dysphagia, proximal-dominant muscle weakness and wasting of the extremities. Muscle biopsy revealed degeneration and regeneration of muscle fibers and infiltration of mononuclear cells. After admission, muscle weakness rapidly progressed and mechanical ventilation was needed for respiratory failure. Simultaneously, cardiac symptom developed and resulted in bradycardia and trifascicular conduction block, which required a pacemaker. Echocardiogram revealed diffuse hypokinesia, ventricular enlargement and thickened wall. Marked elevations of serum CK-MB, cardiac myosin light chain I and cardiac troponin T were observed. High dose administration of methylprednisolone resulted in improvement of muscular and cardiac symptoms, and prevented complete heart block. Immediate and high dose of steroid therapy was considered to be effective for severe myocarditis in polymyositis.     

Motor impairment in amyloid-associated muscle pseudohypertrophy

Muscle involvement, usually associated with pseudohypertrophy, has been described very rarely in patients with AL-(primary or myeloma-associated) amyloidosis. Although precise mechanisms for the motor impairment in amyloid-associated muscle pseudohypertrophy are unknown, amyloid accumulation in the muscle has been thought to be a main cause of muscle weakness. We here describe a patient of amyloid-associated muscle pseudohypertrophy with IgA lambda plasma cell dyscrasia, and discuss possible mechanisms for the physical disability. The patient, a 65-year-old man, was admitted because of progressive stiffness of limb and bulbar muscles for approximately three years. On physical examination he appeared muscular and athletic. The muscles were firm with wooden or rock-like hardness. Superficial veins were engorged in all extremities. Macroglossia was marked. Resistance to passive movement was noted in all extremities with decreased range of motion; proximal joints were more severely affected. The patient walking for a short distance, his legs became heavy, tired and firm, which forced him to stop. Immunoelectrophoresis revealed the monoclonal secretion of IgA lambda in the serum and free lambda light chain in the urine. Bone marrow examination disclosed 30% plasma cells with a large prevalence of IgA lambda-containing cells. A bone scan showed an increased uptake of 99mTc-methylene diphosphate in the shoulder and pelvic joints. Tissue pressures of the quadriceps femoris at the supine and standing positions, and after walking were as high as 47, 89, and 112 mmHg, respectively. Venography of the left leg showed narrowing of the femoral vein and visualization of saphena magna vein.(ABSTRACT TRUNCATED AT 250 WORDS)     

Genotype determines phenotype in experimental Lyme borreliosis

Borrelia burgdorferi sensu lato, the causative organism of Lyme borreliosis, is a heterogeneous group of spirochetes, consisting of at least three pathogenic species. To test the hypothesis that the genetic heterogeneity is the reason for the clinical differences, we investigated whether the experimental disease induced by European isolates is different from that induced by American isolates. Two American isolates of species B. burgdorferi sensu stricto were compared with three European isolates, two of species B. garinii, and one of species B. afzelii. The patterns of infection, immunity, and inflammation induced by the different species was distinctive. Inflammatory cells and levels of antibody in B. garinii- and B. afzelii-infected animals were lower than in B. burgdorferi s.s.-infected animals, whereas levels of spirochetal infection in the skin and nervous system were higher in the former group of animals. These data demonstrate that B. burgdorferi s.s. strains are more infective and inflammatory, whereas B. garinii and B. afzelii strains can survive the adaptive immune response to a greater degree and persist at greater numbers in the skin and nervous system. The results explain to a large extent the disparities between LNB in humans in the United States and Europe.     

抗核基质蛋白2抗体阳性炎性肌病临床及病理分析

目的 探讨抗核基质蛋白2（NXP2）抗体阳性炎性肌病患者的临床表现、肌肉病理特点和治疗。方法 回顾性分析就诊于我院的4例抗NXP2抗体阳性炎性肌病患者的临床表现、肌肉病理改变和治疗方法。结果 4例患者均出现对称性四肢近端无力,2例出现皮肌炎样皮疹,3例出现吞咽困难,2例出现肢体水肿。3例血清肌酸激酶显著升高,1例正常;4例肌电图均为肌源性损害;4例下肢肌肉磁共振显示肌肉及筋膜组织水肿信号;4例血清抗NXP2抗体阳性。肌肉病理3例表现为束周萎缩,血管周围和肌束膜炎性细胞浸润;1例表现为间质水肿。4例患者均给予糖皮质激素治疗,随访3例患者好转,1例出院后意外死亡。结论 抗NXP2抗体阳性炎性肌病以皮肌炎为主要临床表现,多伴有吞咽困难和肢体水肿,肌肉磁共振显示肌肉及筋膜水肿信号;主要病理特点为束周萎缩;糖皮质激素治疗效果较好。     

Ultrasound imaging of muscles in Duchenne muscular dystrophy

The ultrasound imaging of quadriceps, gastrocnemius and soleus muscles was performed in 30 patients with Duchenne muscular dystrophy (DMD) and 16 control subjects. In controls, the skeletal muscle itself was scarcely echogenic. However, bone surface and fascia were clearly echogenic. The transverse scan of muscle in all DMD patients showed an increased echogenicity, which made the echo from bone or fascia less intense. The abnormal muscle echo was graded according to Heckmatt et al. From the quantitative aspect, there was a significant correlation between disability scale of DMD patients and abnormal echogenicity of the quadriceps muscle. A similar correlation was also observed between results of manual muscle testing the ultrasound imaging. The soleus muscle was usually less abnormal than the gastrocnemius in the ultrasound imaging. Thus, the ultrasound imaging seemed to provide an important information for the clinical assessment of DMD patients.