A 65-year-old man who had been experiencing diplopia in front and down gaze for 15 days visited our hospital. Hypertropia was noted in the patient's left eye, and limitation of depression was found in the adduction, primary gaze, and abduction. Brain magnetic resonance imaging showed no remarkable findings. Two weeks after the first visit, the patient complained of ptosis in the left eye. An ice test was performed and the ptosis was resolved after the test. Then, anti-acetylcholine receptor binding antibody levels were checked and found to be slightly elevated. We prescribed methylprednisolone per os 24 mg for 2 weeks, and his symptoms improved after the 2-week treatment. Five weeks after his first visit, the patient showed an ortho result in the alternate prism cover test and normal ocular movements. This may be the first case in which ocular myasthenia gravis presented as double depressor palsy, and in such cases, the possibility of ocular myasthenia gravis should be considered to rule out double depressor palsy.
Aged ; Diagnosis, Differential ; Diplopia/*diagnosis/*etiology ; Humans ; Male ; Myasthenia Gravis/*complications/*diagnosis ; Ocular Motility Disorders/diagnosis/etiology ; Strabismus/diagnosis/etiology

PURPOSE: The underlying cause of myasthenia gravis (MG) is unknown, although it likely involves a genetic component. However, no common genetic variants have been unequivocally linked to autoimmune MG. We sought to identify the genetic variants associated with an increased or decreased risk of developing MG in samples from a Korean Multicenter MG Cohort. MATERIALS AND METHODS: To determine new genetic targets related to autoimmune MG, a whole genome-based single nucleotide polymorphisms (SNP) analysis was conducted using an Axiom(TM) Genome-Wide ASI 1 Array, comprising 598375 SNPs and samples from 109 MG patients and 150 neurologically normal controls. RESULTS: In total, 641 SNPs from five case-control associations showed p-values of less than 10(-5). From regional analysis, we selected seven candidate genes (RYR3, CACNA1S, SLAMF1, SOX5, FHOD3, GABRB1, and SACS) for further analysis. CONCLUSION: The present study suggests that a few genetic polymorphisms, such as in RYR3, CACNA1S, and SLAMF1, might be related to autoimmune MG. Our findings also encourage further studies, particularly confirmatory studies with larger samples, to validate and analyze the association between these SNPs and autoimmune MG.
Antigens, CD/genetics ; Asian Continental Ancestry Group/genetics ; Calcium Channels/genetics ; Female ; Genetic Predisposition to Disease/genetics ; Genotype ; Humans ; Male ; Myasthenia Gravis/*etiology ; Polymorphism, Single Nucleotide/genetics ; Receptors, Cell Surface/genetics ; Ryanodine Receptor Calcium Release Channel/genetics

Myasthenia gravis (MG) is often complicated by respiratory failure, known as a myasthenic crisis. However, most of the patients who develop respiratory symptoms do so during the late course of disease and have other neurological signs and symptoms. However, in some patients respiratory failure is the initial presenting symptom. We report the case of a 68-year-old woman with MG who presented with isolated respiratory failure as her first presenting symptom. As illustrated by this case, it is important to consider neuromuscular disorders in cases of unexplained respiratory failure.
Acute Disease ; Aged ; Electromyography ; Female ; Humans ; Myasthenia Gravis/*complications/*diagnosis ; Pulmonary Atelectasis/etiology/radiography ; Respiratory Insufficiency/*etiology/*radiography ; Tomography, Spiral Computed

OBJECTIVEMyasthenia gravis is an autoimmunity disease and its pathogenesis has not been fully identified. Heat shock protein 90 (HSP90) shows an abnormal expression in other autoimmunity diseases. This study examined the mRNA expression of two isoforms of HSP90 in peripheral blood mononuclear cells (PBMC) and serum cortisol content in children with myasthenia gravis.

METHODSThirty-six children with myasthenia gravis and 19 healthy children were enrolled. Serum cortisol content was measured by the chemiluminescence assay. The expression of HSP90alpha and HSP90beta mRNA in PBMC was detected by the RT-PCR technique.

RESULTSThe mRNA expression of HSP90alpha (0.7329+/- 0.2120) and HSP90beta (0.7193+/- 0.2869) in children with myasthenia gravis was significantly higher than that in healthy controls (0.5574+/- 0.2084 and 0.4892+/- 0.2104 respectively) (P<0.01). Serum cortisol content (285.04+/- 146.39 nmol/L) in children with myasthenia gravis was also higher than that in the healthy controls (196.25+/- 64.52 nmol/L) (P<0.01).

CONCLUSIONSThe high mRNA expression of HSP90alpha and HSP90beta in PBMC might be associated with the development of myasthenia gravis. The high serum cortisol level indicates a high stress state or might be correlated to the glucocorticoid receptor abnormality in children with myasthenia gravis.

Child ; Child, Preschool ; Female ; HSP90 Heat-Shock Proteins ; genetics ; Humans ; Hydrocortisone ; blood ; Leukocytes, Mononuclear ; metabolism ; Male ; Myasthenia Gravis ; etiology ; metabolism ; RNA, Messenger ; blood

OBJECTIVETo study the prognostic and clinical relevance of histologic subtyping of thymoma according to the World Health Organization (WHO) classification.

METHODSThe clinicopathologic features of 108 patients with thymoma removed surgically were retrospectively reviewed. The histologic diagnosis of the tumors was made on the basis of 2004 WHO classification by two experienced pathologists. The correlation between Masaoka tumor stage, WHO histologic subtype, completeness of resection, presence of myasthenia gravis, other clinical parameters (including age, gender and tumor size) and survival was studied.

RESULTSAccording to WHO classification, there were 7 cases (6.5%) of type A thymoma, 19 cases (17.6%) of type AB thymoma, 23 cases (21.3%) of type B1 thymoma, 19 cases (17.6%) of type B2 thymoma, 27 cases (25.0%) of type B3 thymoma and 13 cases (12.0%) of type C thymoma. According to Masaoka tumor staging, 36 cases (33.3%) were in stage I, 34 cases (31.5%) in stage II, 27 cases (25.0%) in stage III and 11 cases (10.2%) in stage IV(a). The association between histologic subtype and Masaoka tumor stage was statistically significant (P = 0.000). The 5-year survival rates of type A, AB, B1, B2 and B3 thymoma cases were 100%, 100%, 93%, 83% and 43%, respectively; while the 10-year survival rates were 100%, 100%, 81%, 70% and 33%, respectively. The median survival time of type C thymoma was 62.5 months. Type B2 and B3 thymoma cases had an intermediate prognostic ranking in comparison with type C thymoma and other groups (P = 0.000). The 5-year survival rates of tumors in stage I, II and III were 100%, 77% and 54%, respectively; while the 10-year survival rates were 100%, 70% and 27%, respectively. The median survival time of patients in stage IV(a) was 14.0 months. Masaoka tumor stage was highly significant in predicting survival of patients (P = 0.000). On multivariate analysis, Masaoka tumor stage was an independent predictive factor for survival (P = 0.027). On the other hand, the WHO subtype (type A to B1 versus type B2 to B3 versus type C) and completeness of resection could predict the tumor-related survival.

CONCLUSIONSThe Masaoka tumor stage is the single most important prognostic factor of thymoma. The WHO histologic subtype and completeness of resection affect mainly the post-operative survival. The classification of thymoma may also reflect the clinical behavior of the tumor. Type A, AB and B1 thymomas belong to the low-risk group, while type B2 and B3 thymomas have an intermediate prognostic ranking. Type C thymoma carries the worst prognosis.

Adult ; Aged ; Female ; Humans ; Male ; Middle Aged ; Multivariate Analysis ; Myasthenia Gravis ; etiology ; Prognosis ; Survival Analysis ; Thymoma ; classification ; complications ; diagnosis ; pathology ; Thymus Neoplasms ; classification ; complications ; diagnosis ; pathology ; World Health Organization

OBJECTIVETo evaluate the effectiveness of thymectomy for myasthenia gravis (MG) and the relative risk factors for postoperative myasthenic crisis.

METHODSThe clinic data of 78 cases with MG who underwent thymectomy from June 1985 to June 2005 were analyzed retrospectively. The relative risk factors of postoperative myasthenic crisis were analyzed and the differences between new and old region of perioperative management were compared.

RESULTSThe symptom of MG was complete remission in 21 cases, significantly improved in 38 cases, improved in 11 cases and unchanged in 8 cases, respectively. The symptom duration before operation, preoperative serum level of anti-acetylcholine receptor antibody, Osserman stage and pathological type of thymoma were independent relative risk factors for postoperative myasthenic crisis. The new region of perioperative management was significant better than the old one.

CONCLUSIONSurgical treatment shows significant clinical benefits for patients with MG.

Adolescent ; Adult ; Female ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Muscle Weakness ; etiology ; prevention & control ; Myasthenia Gravis ; surgery ; Postoperative Complications ; prevention & control ; Retrospective Studies ; Thymectomy ; adverse effects ; methods ; Treatment Outcome

OBJECTIVETo identify clinical features and diagnostic tests that would alert the otolaryngologist to consider myasthenia gravis (MG) in the differential diagnosis of dysphonia, we reviewed the clinical characteristics of MG whose initial symptom is dysphonia.

METHODS31 patients who presented with dysphonia as their initial and primary complaint are reported, their symptoms and signs are observed and analyzed.

RESULTSPatients with dysphonia as their initial symptom of MG may complain of vocal fatigue, difficulty sustaining or projecting their voices, breathy voice or intermittent hoarseness. These symptoms are characterized by fluctuating weakness and abnormal fatigability. Flexible fibroendoscopic examination revealed that patients had incomplete adduction of the vocal folds, fatigue of the tensors of the vocal fold, incomplete glottic closure, vocal cord paralysis, saliva pooling over the bilateral or unilateral pyriform sinus. Neostigmine test revealed dramatic improvement in all patients. Serum levels of anti-Ach-R antibodies were tested in 19 cases, only 5 cases were abnormality. All patients had improved after treatment

CONCLUSIONSVoice changes can be the first sign of early MG. Based on fluctuating weakness or weak voice at the end of the day, a positive neostigmine test, significantly higher circulating antibody to acetylcholine receptor, a diagnosis of MG could definitively be made.

Adolescent ; Adult ; Age Distribution ; Diagnosis, Differential ; Dysphonia ; diagnosis ; etiology ; Female ; Humans ; Male ; Middle Aged ; Myasthenia Gravis ; complications ; diagnosis ; Sex Distribution ; Young Adult

We report two cases of systemic lupus erythematosus (SLE) in myasthenia gravis (MG) patients who had undergone thymectomy. SLE developed in the patients 3 months or 13 yr after thymectomy, and polyarthritis was the main clinical manifestation of SLE. Both patients fulfilled at least four of the revised criteria for the classification of SLE. In this report, we describe two postthymectomy lupus patients and perform a comparative review of previous cases.
Adult ; Female ; Human ; Lupus Erythematosus, Systemic/*diagnosis/etiology ; Myasthenia Gravis/*diagnosis/therapy ; Thymus Gland/*surgery ; Time Factors

OBJECTIVEThe aim of this study was to analyses the clinicopathologic features of the patient with myasthenia gravis (MG) occurring after resection of thymoma.

METHODSData of 15 patients were collected. The follow-up range from 8 to 178 (average 76.7) months. A retrospective analysis was performed through comparison with data of all 112 cases without MG, which had not occurred MG during our average 5.5 years follow-up, operated for thymoma in same period. The statistics analysis adopted chi(2) and t test.

RESULTS(1) According to Masaoka's classification of thymoma, stage I in 7 cases, stage II in 4, stage III in 4. Histologic Bernatz's classification: lymphocyte predominant type in 4, epithelial type in 3, mixed type in 7, unknown in 1. According to Osserman's classification of MG, grade I in 7, IIa in 4, IIb in 3, III in 1. The MG onset times was the postoperative narcotic waking duration-137 (average 33.9) months, and the average remission time was 30.9 (0.5 - 120) months. (2) 4 cases who occur MG as soon as pull up narcotic tube, all adopted nondepolarizing muscular relaxants. (3) MG was discovered in 3 cases (3/67) during postoperative radiotherapy until a average dosage of 36 Gy was received in average 24 days. (4) The tendency of occurring MG following resection was found in female patients with longer duration of disease, mixed type, larger and later stage thymoma as compared with the thymoma group.

CONCLUSIONSThe factors including the operation, relatively using overdose relaxation control, choosing unfavorable muscle relaxant and postoperative radiotherapy could induce postoperative MG. An intensive care should be put on the cases with the tendency of occurring postoperative MG.

Adult ; Combined Modality Therapy ; Female ; Humans ; Male ; Middle Aged ; Myasthenia Gravis ; etiology ; Neuromuscular Depolarizing Agents ; adverse effects ; Postoperative Period ; Radiotherapy, Adjuvant ; adverse effects ; Retrospective Studies ; Sex Factors ; Thymectomy ; adverse effects ; Thymoma ; radiotherapy ; surgery ; Thymus Neoplasms ; radiotherapy ; surgery

OBJECTIVETo study the diagnosis and treatment of thymoma and to assess its prognostic factors.

METHODSThe clinical data of 116 patients with thymoma were collected. A retrospective analysis was performed, by comparing the survival rate calculated by the Kaplan-Meier method with the rate of recurrence or metastasis.

RESULTSThe standard posteroanterior and lateral chest radiographs were reliable means of detection of most thymomas. Myasthenia gravis was the most commonly paraneoplastic disease (25.0%, 29/116). The extensive radical resection was beneficial for reducing the rate of recurrence of stage I or stage II thymomas (chi(2) = 4.941, P = 0.0219). The survival time could be prolonged by postoperative radiotherapy and chemotherapy. There was a strong correlation between the clinical stage and the histological classification (according to MH classification), through which the invasive behavior of thymoma could be predicted (chi(2) = 19.76, P = 0.007, RR = 1.47). The 3- 5- and 10-year survival rates were 81.2%, 67.9%, and 40.5%, respectively. Statistical analysis showed a significant negative correlation between the stage and the survival rate (chi(2) = 29.73, P = 0.0000, RR = 0.15).

CONCLUSIONThe prognosis of thymoma depends mainly on the histological classification, clinical stage and multimodality treatment rather than on the paraneoplastic diseases.

Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Female ; Humans ; Male ; Middle Aged ; Myasthenia Gravis ; etiology ; Prognosis ; Retrospective Studies ; Thymoma ; diagnosis ; mortality ; therapy ; Thymus Neoplasms ; diagnosis ; mortality ; therapy