• Journal of Korean Neurosurgical Society
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• v.53 no.5
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• pp.305-308
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• 2013

Myositis ossificans (MO) is a benign condition of non-neoplastic heterotopic bone formation in the muscle or soft tissue. Trauma plays a role in the development of MO, thus, non-traumatic MO is very rare. Although MO may occur anywhere in the body, it is rarely seen in the lumbosacral paravertebral muscle (PVM). Herein, we report a case of non-traumatic MO in the lumbosacral PVM. A 42-year-old man with no history of trauma was referred to our hospital for pain in the low back, left buttock, and left thigh. On physical examination, a slightly tender, hard, and fixed mass was palpated in the left lumbosacral PVM. Computed tomography showed a calcified mass within the left lumbosacral PVM. Magnetic resonance imaging (MRI) showed heterogeneous high signal intensity in T1- and T2-weighted image, and no enhancement of the mass was found in the postcontrast T1-weighted MRI. The lack of typical imaging features required an open biopsy, and MO was confirmed. MO should be considered in the differential diagnosis when the imaging findings show a mass involving PVM. When it is difficult to distinguish MO from soft tissue or bone malignancy by radiology, it is necessary to perform a biopsy to confirm the diagnosis.

• Clinical and Experimental Pediatrics
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• v.51 no.12
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• pp.1295-1299
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• 2008

Inherited muscle diseases are heterogeneous with varying genetic etiologies and present with common symptoms and signs, including weakness, motor developmental delay, and hypotonia. To diagnose these various diseases, a meticulous family and clinical history, physical and neurological examinations, laboratory findings with electromyography, muscle biopsy, and genetic testing are needed. Here, I review several inherited muscle diseases, with a focus on muscular dystrophy in children and its genetics and general management.

• Annals of Clinical Neurophysiology
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• v.22 no.2
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• pp.51-60
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• 2020

Muscle pathology findings may guide the diagnosis of neuromuscular disorders since they are helpful for understanding the pathological processes causing muscle weakness and also provide significant clues for the diagnosis of muscle diseases. Recent advances in molecular genetics mean that a muscle biopsy can be omitted when diagnosing inherited muscle diseases. However, the muscle pathology can still play a role in those cases and its findings are also required when diagnosing inflammatory myopathies.

• Journal of Genetic Medicine
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• v.14 no.2
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• pp.75-79
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• 2017

Duchenne and Becker muscular dystrophies (DMD and BMD, respectively) are X-linked neuromuscular disorders characterized by progressive muscle weakness and severe skeletal muscle degeneration. BMD is a milder form with a later onset. Patients with BMD tend to survive much longer than those with DMD. The differentiation between DMD and BMD is important in the genetic counseling of affected patients and their families. Since muscle biopsies are invasive procedures, the differential diagnosis of BMD and DMD is often dependent on the mutation identified in the DMD gene in affected patients. However, when a novel DMD mutation is identified, the differential diagnosis should be based on muscle biopsy findings with other clinical findings. Here we describe two Korean patients with BMD confirmed by muscle biopsy and genetic testing. Two novel exonic deletions in the DMD gene were identified.

• Korean Journal of Head & Neck Oncology
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• v.29 no.2
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• pp.48-50
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• 2013

Angiomyoma is a rare, benign smooth muscle cell tumor. These tumors may be found anywhere in the body. They frequently occur in the lower extremities except venous type. Angiomyoma in the head and neck area is very rare, and only a few cases have been reported. A 63 year-old male patient visited to outpatient clinic due to size-growing nodule-like lesion in the Lt. alar area. Excisional biopsy was done for diagnosis. The lesion was totally excised with 2 mm safety margin. Frozen biopsy of the lesion was requested, and all resection margins were proved negative. To cover the raw surface, full thickness skin grafting was performed. The graft was harvested from Rt. posterior auricular area. Tie over dressing was applyed on Lt. alar area. The graft was well taken and healed without any complication in both short term and long term follow up periods of 2 weeks, 1 month, 2 months, and 6 months. Donor site completed healed without any complications. The leiomyoma is benign tumor originated from smooth muscle, and it can be classified into solid leiomyoma, angiomyoma, and epithelioid leiomyoma. Especially, the angiomyoma consists of smooth muscle cell and blood vessel, and it is originated from the tunica media of blood vessel. Angiomyoma alone frequently occurs in the lower extremities as solitary painless subcutaneous tumor. Venous type of angiomyoma in the oral cavity was reported in other references, but on the facial surface it may be the first case reported as paper. So this report can be very meaningful.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.38
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• pp.33.1-33.6
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• 2016

Background: The purpose of this study was to compare the expression levels of p65 and S100 in the rat masseter muscle after the injection of different concentrations of botulinum toxin-A (BTX-A). Methods: We injected either 5 or 10 U of BTX-A into both masseter muscle of rats. As a control group, the same volume of saline was injected. After 14 days, the animals were sacrificed. Subsequently, a biopsy and immunohistochemical staining of the samples were performed using a p65 or S100 antibody. Results: The cross-sectional area of each myofibril was significantly reduced by BTX-A injection (P < 0.001). The expression of p65 and S100 increased significantly with increasing concentrations of BTX-A (P < 0.001). Conclusions: The injection of BTX-A into the masseter muscle induced muscle atrophy. Subsequently, p65 and S100 expression in myoblasts were increased for the protection of muscle cells.

• Journal of Chest Surgery
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• v.28 no.1
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• pp.42-46
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• 1995

Vertical axillary muscle sparing thoracotomy is newly appeared and excellent alternative method of standard posterolateral thoracotomy.It has many advantages compared to standard posterolateral thoracotomy , less postoperative pain, well preserved thoracic muscle strength, full range of motion of the shoulder girdle and attractive cosmetic results. We performed vertical axillary muscle sparing thoracotomy in 36 patients from November 1993 to July 1994. The ages of the patients ranged from 6 months to 71 years[mean 45.1 years , and the patients consisted of 20 males and 16 females.The preoperative diagnosis were as follows : lung cancer in 17 patients, tbc destroyed lung in 7, bronchiectasis in 3, bullous emphysema in 3 and the others are mediastinal tumor, bronchogenic cyst, lung abscess, empyema, esophageal diverticulum, and CCAM [congenital cystic adenomatoid malformation . The operative procedures were as follows : lobectomy and bilobectomy in 16 patients, segmentectomy in 4, wedge resection in 3, penumonectomy in 7, and the others were open biopsy, lobectomy with diaphragm excision, sleeve right upper lobectomy, decortication, mediastinal mass excision, and esophageal diverticulectomy. We had 6 complications : postoperative bleeding in 2 cases, operative wound infection, arrrhythmia[atrial fibrillation , Horner`s syndrome, hoarseness. The subcutaneous seroma occurred in 4 cases but did not require drainage and relieved within 4 weeks spontaneously. We concluded that vertical axillary muscle sparing thoracotomy could be done in most of all thoracic surgery with safety. Comparing to standard posterolateral thoracotomy vertical axillary muscle sparing thoracotomy has many advantages such as less postoperative pain, well preserved muscle strengths and good cosmetic results.

• Archives of Craniofacial Surgery
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• v.22 no.1
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• pp.66-70
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• 2021

Isolated head and neck metastasis of renal cell carcinoma (RCC) is relatively rare and metastasis to the temple area is very rare. Here, we present the case of a 51-year-old man who was diagnosed with RCC 2 years earlier and had a contralateral metastatic temple area lesion. The patient who was diagnosed with renal cell cancer and underwent a nephrectomy 2 years ago was referred to the plastic surgery department for a temple mass on the contralateral side. In the operative field, the mass was located in the temporalis muscle with a red-to-purple protruding shape. Biopsy of the mass revealed a metastatic RCC lesion. Computed tomography imaging showed a lobulated, contoured enhancing lesion. Positron emission tomography/computed tomography imaging showed high-fluorodeoxyglucose uptake in the right temporalis muscle. The patient underwent wide excision of the metastatic RCC including the temporalis muscle at the plastic surgery department. Skeletal muscle metastasis of head and neck lesions is extremely rare in RCC. Isolated contralateral temporalis muscle metastasis in RCC has not been previously reported in the literature. If a patient has a history of malignant cancer, plastic surgeons should always consider metastatic lesions of head and neck tumors. Because of its high metastatic ability and poor prognosis, it is very important to keep this case in mind.

• Parasites, Hosts and Diseases
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• v.59 no.5
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• pp.497-499
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• 2021

Trichinellosis (trichinosis) is a parasitic infection caused by nematodes of the genus Trichinella. Pigs are the most common source of human infection. We describe a case of a 47-year-old woman presented with a wide range of intermittent symptoms including prolonged fever, dry cough, diarrhea, rash, myalgias and arthralgias. The patient was attended by physicians with various medical specialties such as dermatologists, rheumatologists and allergiologists, but they did not establish a certain diagnosis because of the gradual onset of symptoms, raising the suspicion of a systematic disease. After extensive work up, the diagnosis of trichinosis was established with femoral muscle biopsy compatible with inflammatory myopathy of parasitic etiology with trichinosis to be the predominant diagnosis. Despite the significant delay of diagnosis for almost three months, patient was treated successfully with no further complications. Trichinellosis is a food-borne treatable infection. Preventive measures include community education especially in zones where parasite prevalence is increased, improvement of farming and cooking techniques.

• Journal of Genetic Medicine
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• v.16 no.2
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• pp.67-70
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• 2019

Limb-girdle muscular dystrophy (LGMD) is a group of muscular dystrophies that has extremely heterogeneous clinical features and genetic background. The caveolin-3 gene (CAV3) is one of the causative genes. LGMD appears as a clinical continuum, from isolated skeletal muscle involvement to long QT syndrome. Here we report two patients without apparent muscle weakness in a family with CAV3 mutation. A 7-month-old Korean boy visited our muscle clinic because of an incidental finding of elevated serum creatine kinase (CK) concentration (680 IU/L, reference range, 20-270 IU/L) without clinical symptoms. The patient was born after an uneventful pregnancy and showed normal developmental milestones. He developed pseudohypertrophy of his calf muscle during the follow-up. We obtained a muscle biopsy at age 14 months, which showed size variations and degenerating/regenerating myofibers with endomysial fibrosis and immunohistochemical evidence of normal dystrophin. Under the impression of LGMD, we performed target panel sequencing and identified a heterozygous in-frame mutation of CAV3, c.307_312delGTGGTG (p.Val103_Val104del). Immunohistochemical staining of muscle indicated complete loss of caveolin-3 compared with normal control muscle, which supported the variant's pathogenicity. We performed segregation analysis and found that the patient's mother had the same variant with elevated serum CK level (972 IU/L). We report on autosomal dominant familial caveolinopathy caused by a pathogenic variant in CAV3, which was asymptomatic until the fourth decade. This case highlights the utility of next generation sequencing in the diagnosis of muscular dystrophies and the additive role of muscle biopsy to confirm the variants.