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We report a rare case of a 70-year-old woman diagnosed as having blepharospasm with positive anti-acetylcholine receptor antibody. Blepharospasm developed in November, 2000, and increased in frequency, and worsened toward the evening. She complained of difficulty in her eyelid opening from October, 2002. Neurological examinations revealed blepharospasm and mild ptosis in both eyes. Tensilon test was negative. Waning and waxing were not detected in bilateral orbicularis oculi muscles by Harvey-Masland test. However, anti-acetylcholine receptor antibody was positive and thymoma in the anterior mediastinum was also found by the computed tomography of the chest. After the thymectomy, frequency of blepharospasm decreased. When blepharospasm worsened toward the evening, the co-existence of myasthenia gravis should be borne in mind.
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PMID:[Blepharospasm in a patient with thymoma and positive anti-acetylcholine receptor antibody]. 1465 4

Ocular problems are common in recipients of stem cell transplantation (SCT), but ptosis is rarely reported and investigated. Among 346 consecutive SCT recipients, severe bilateral ptosis was noticed or reported in six cases (five women and one man), all with acute graft-versus-host disease (aGVHD) and chronic graft-versus-host disease (cGVHD). On univariate analysis, both aGVHD (P=0.001) and cGVHD (P<0.001) were associated with post SCT ptosis, while a trend was shown for female sex (P=0.086). The median level of anti-acetylcholine receptor antibody was significantly higher in ptosis cases than controls with cGVHD (student's t-test, P=0.01). Antistriated muscle antibody was detected in three cases and was not significantly different from controls (Fisher's exact test, P=0.29). Tensilon tests were uniformly negative. However in five cases, single fibre electromyogram at frontalis muscle showed irregular recruitment effort, suggesting localized neuromuscular transmission defect reminiscent of ocular myasthenia gravis (MG). Two patients were observed, while three patients did not respond to mestinon or steroids treatment and one patient underwent aponeurosis advancement surgery. Transplant physicians and ophthalmologists should be aware of the problem of post SCT ptosis, which may be related to alloimmune causes of neuromuscular transmission block. Diagnosis can be difficult to confirm even with invasive SF-EMG testing. Most cases warrant conservative treatment due to chronicity, benign course and poor response to medication.
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PMID:Immunological and electrophysiological investigations of severe ptosis after bone marrow transplantation. 1524 30

We report a 64-years old man who had myasthenia gravis (MG) appearing after surgical removal of thymoma. His thymoma was not removed completely due to adhesion with other organs. Histopathologicaly, the thymoma was an invasive and predominantly epithelial type. CD45RO positive cells increased in the thymus. After five months of thymectomy, he received radiation therapy because the remaining tumor grew up slightly. The radiation was effective, and the recurrence of tumor has never been detected after that. However, nine months after the surgery, he noticed ptosis and double vision, and he was diagnosed as MG because of positive serum anti-AchR antibody and positive Tensilon test. He received oral prednisolone, and he has kept a good condition. Previous reports have shown that an extensive thymectomy tends to reduce the incidence of post-operative MG. In our case, the remaining thymoma might increase the risk of MG. And the removed thymus might contain an unknown regulatory factor that could inhibit a development of MG. The risk factor for development of post-operative MG should be investigated in future.
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PMID:[A case of myasthenia gravis appearing after thymomectomy: with histopathological investigation]. 1691 Apr 71

A 54-year-old woman was admitted to our hospital because of diplopia, dysphagia, dropped head, and muscle weakness with easy fatigability. A neurological examination showed bilateral ptosis, ocular motility disorder, dysphagia, and weakness of the neck extensor muscles. Edrophonium and repetitive nerve stimulation tests of the thenar muscles showed positive results. The serum titer of anti-acetylcholine receptor antibody was negative. A thymoma was not detected in her chest CT. Finally, she was diagnosed with anti-MuSK antibody-positive myasthenia gravis based on the high serum titer of anti-MuSK antibody (239 nmol/l). Her symptoms improved after administration of prednisolone. However, the symptoms were aggravated when the prednisolone dosage was reduced, and the titer of anti-MuSK antibody rose at the same time. We evaluated the possible association between changes in the severity of her clinical symptoms and the titer of the antibody during prednisolone therapy. It was revealed that the titer of the antibody was correlated to the severity of clinical symptoms expressed by a QMG (Quantitative Myasthenia Gravis) score. These findings indicate that monitoring the titer of anti-MuSK antibody can be useful for assessing disease activity as well as decision making during treatment.
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PMID:[Titer of anti-muscle-specific receptor tyrosine kinase (MuSK) antibody correlated with symptomatic improvement in response to corticosteroid therapy in a patient with anti-MuSK antibody-positive myasthenia gravis: a case report]. 1763 10

Myasthenia gravis is typically an acquired autoimmune disorder in which antibodies are directed at structural components of the neuromuscular junction, most commonly the nicotinic acetylcholine receptor. The clinical manifestations of skeletal muscle weakness are broad. Patients most often report fatigable muscle weakness. The eyelid levators and extraocular muscles are most commonly affected, resulting in symptoms of ptosis and diplopia. Symptoms may be confined to the eyes (ocular myasthenia) or reflect bulbar, limb, or respiratory muscle weakness (generalized myasthenia). The diagnosis is based on a characteristic history and the finding of fatigable muscle weakness on examination, and may be supported by diagnostic tests such as finding elevated titers of acetylcholine receptor or muscle-specific receptor tyrosine kinase (MuSK) antibodies, a positive Tensilon test, a decremental response on slow repetitive nerve stimulation, and abnormal jitter on single fiber electromyography. This article presents a series of pearls to aid in the clinical and laboratory diagnosis of myasthenia gravis, emphasizing key historical features, common and characteristic findings on examination, and potential pitfalls in the use of ancillary diagnostic studies.
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PMID:Pearls: myasthenia. 2012 79

Myasthenia gravis may affect any of the six extra-ocular muscles, masquerading as any type of ocular motor pathology. The frequency of involvement of each muscle is not well established in the medical literature. This study was designed to determine whether a specific muscle or combination of muscles tends to be predominantly affected. This retrospective review included 30 patients with a clinical diagnosis of myasthenia gravis who had extra-ocular muscle involvement with diplopia at presentation. The diagnosis was confirmed by at least one of the following tests: Tensilon test, acetylcholine receptor antibodies, thymoma on chest CT scan, or suggestive electromyography. Frequency of involvement of each muscle in this cohort was inferior oblique 19 (63.3%), lateral rectus nine (30%), superior rectus four (13.3%), inferior rectus six (20%), medial rectus four (13.3%), and superior oblique three (10%). The inferior oblique was involved more often than any other muscle (p<0.01). Eighteen (60%) patients had ptosis, six (20%) of whom had bilateral ptosis. Diagnosing myasthenia gravis can be difficult, because the disease may mimic every pupil-sparing pattern of ocular misalignment. In addition diplopia caused by paresis of the inferior oblique muscle is rarely encountered (other than as a part of oculomotor nerve palsy). Hence, when a patient presents with vertical diplopia resulting from an isolated inferior oblique palsy, myasthenic etiology should be highly suspected.
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PMID:Inferior oblique muscle paresis as a sign of myasthenia gravis. 2653 48

A 45-year-old man was admitted to our hospital because of taste disorders in March 2014. He exhibited cervical muscle weakness and left eye ptosis, which responded to Tensilon test, and was diagnosed with myasthenia gravis (MG). He developed aspiration pneumonia and myasthenic crisis, which was treated with intravenous immunoglobulin and steroid pulse therapy. All symptoms disappeared. Oral administration of prednisolone and tacrolimus was started. Chest CT revealed thymoma and extended thymectomy was performed in May 2014. In December 2014, seven months after the thymectomy, hematological examination showed pancytopenia including severe neutropenia. We diagnosed his illness as aplastic anemia (AA). Cyclosporine therapy with transfusion was administerd and led to reticulocyte count recovery. Since May 2015, hemoglobin recovery reached a blood transfusion free period. To our knowledge, this is the first case report with the patient supposed of relationship among taste disorders, AA and thymoma-associated MG.
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PMID:[A case of myasthenia gravis with transient taste disorders followed by aplastic anemia after thymectomy]. 2687 9

Objective Guillain-Barre syndrome (GBS) is the most common cause of acute weakness in children. It has multiple variant forms with different presentations. A rare initial sign is ptosis. In this study, we present a 10-year-old girl with bilateral ptosis without opthalmoplegia followed by a weakness in extremities with a favourable response to intravenous immunoglobulin. Due to the patient's initial eyelid levators, myasthenia gravis was ruled out by a Tensilon test and electrophysiological studies. Our report highlights the possibility of GBS as a cause of isolated ptosis, especially in cases without ophthalmoplegia.
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PMID:Bilateral Ptosis as the First Presentation of Guillain-Barre Syndrome. 2705 92

The initial symptoms of myasthenia gravis are usually ptosis and diplopia. The diagnosis is often confirmed by testing for anti-acetylcholine receptor antibodies or by observing the effects of intravenous edrophonium (Tensilon) injection. However, these standard tests may be negative in patients with isolated ocular findings. We present the case of an 83-year-old woman with negative serologic and Tensilon testing. She was asked to photograph herself daily. The resulting sequence of daily selfies captured striking fluctuations in her ocular alignment and ptosis. Daily selfies may be a useful strategy for confirming the clinical diagnosis of ocular myasthenia gravis.
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PMID:Diagnosis of Tensilon-Negative Ocular Myasthenia Gravis By Daily Selfie. 2752 28

Girls with Turner syndrome (TS), especially with isochromosome 46,X,i(X)(q10), are prone to develop autoimmunity. Associations of several autoimmune conditions with TS have been frequently described in the past. However, the unique combination of TS and myasthenia gravis (MG) has been reported only once before in a girl with mosaic monosomy 45,X/46,XX. Here, we present the second case of a girl affected with seronegative MG but with mosaic isochromosome TS. This is a child with developmental delay presented with muscle weakness, frequent fall, and bilateral ptosis. Diagnosis of MG was made based on positive Tensilon and electromyography tests and excellent response to intravenous immunoglobulin. At the age of 11 years due to short stature and developmental delay, a karyotype was done and revealed the mosaic isochromosome 45,X/46,X,i(X)(q10). Overall, clinicians should be aware of the vulnerability of girls with TS to autoimmunity, especially if the isochromosome 46,X,i(X)(q10) karyotype is identified. Furthermore, if a child with TS develops muscle weakness, ptosis, or ophthalmoplegia, MG should also be included in the differential diagnosis, particularly if other concurrent autoimmune conditions are present.
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PMID:Seronegative Myasthenia Gravis, as a Rare Autoimmune Condition in Turner Syndrome. 2934 58


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