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Myasthenia gravis (MG) is a rare complication of allogeneic bone marrow transplantation (BMT). We present the 11th case in the medical literature, a 23-year-old female 100 months post-allogeneic bone marrow transplantation for acute myelogenous leukemia (AML). After discontinuation of immunosuppression for chronic graft-versus-host disease (GVHD) involving skin, gastrointestinal tract and lacrimal glands, the patient developed severe, progressive dysphagia initially attributed to esophageal candidiasis. With the development of muscle weakness, ptosis, and dysphonia the diagnosis of generalized myasthenia gravis was suspected, and confirmed by elevated anti-acetylcholine receptor antibody titer and a positive edrophonium challenge. Prednisone and pyridostigmine produced improvement, and thymectomy was performed without pathologic evidence of thymoma. Recurrent post-operative respiratory distress required transient mechanical ventilation. Twenty-seven months after diagnosis, the patient requires maintenance prednisone to control symptoms of myasthenia gravis. The clinical features of all reported cases of MG post-allogeneic BMT are reviewed, and universal features include an association with decreasing immunosuppression, the presence of other manifestations of chronic GVHD, anti-acetylcholine receptor antibodies, and the absence of an associated thymoma. HLA Cw1, Cw7 and DR2 were identified at frequencies significantly above that expected from HLA antigen prevalance studies, and may be markers for increased risk of developing MG post-allogeneic BMT. No statistically significant associations with HLA A2, B7, B35 or donor-recipient sex mismatch were present. Reinstitution of immunosuppression and standard therapies for myasthenia gravis were effective in the majority of cases. The role of thymectomy in this population remains unclear.
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PMID:Myasthenia gravis in association with allogeneic bone marrow transplantation: clinical observations, therapeutic implications and review of literature. 915 70

We report on a 46-year-old man with a 4-year history of predominantly nocturnal pain at the thoracic and lumbar spine as well as accompanying morning stiffness and episodes of alternating buttock pain. At physical examination the patient presented with the typical traits for Marfan's syndrome (MFS), along with limitation of both chest expansion and movement in all planes of the lumbar spine. Pelvic and lumbar spine radiographs showed findings consistent with ankylosing spondylitis (AS). Laboratory tests were consistent with an inflammatory state and HLA typing was positive for the B27 antigen. Transthoracic echocardiography showed prolapse of the posterior mitral leaflet and mild aortic insufficiency. We diagnosed co-existent MFS and AS. The association of these two pathologies is particularly interesting, owing to the co-existence of hypermobility of peripheral joints due to MFS ligamentous hyperlaxity, and the reduction of both axial skeleton motility and chest expansion related to AS. As both of these diseases may damage the cardiovascular system over time, follow-up with echocardiography monitoring is indispensable.
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PMID:Coexistent Marfan's syndrome and ankylosing spondylitis: a case report. 1134 28

A 43-year-old man was admitted to our hospital because of diplopia, ptosis, and dysphagia that had begun three years previously. He was diagnosed with myasthenia gravis (MG) and invasive thymoma and treated with corticosteroid, thymectomy, and radiation therapy. Ten years after the thymectomy, computed tomography (CT) showed metastasis of the thymoma in the left lower lobe of the lung. Two years after this recurrence, when the patient was 55, respiratory symptoms such as wheezing, persistent cough, and dyspnea appeared. Chronic sinusitis, diffuse centrilobular opacities on CT, and positivity for HLA-B54 led to a diagnosis of diffuse panbronchiolitis (DPB). Despite treatment with clarithromycin, the respiratory symptoms worsened. The patient developed alopecia and body hair loss at the age of 56 followed by dysgeusia, cholangitis, and myositis with positivity for anti-Kv1.4 antibodies. Although treatment with an increased dose of corticosteroid improved hair loss, dysgeusia, cholangitis, and myositis, he died of progression of DPB and serious respiratory infection at the age of 58. In this case, various autoimmune disorders occurred together with MG as complications of thymoma. Although alopecia, dysgeusia, and myositis are already known as complications of MG associated with thymoma, cholangitis is not well-recognized since there have been few reports suggesting a causal relationship between cholangitis and thymoma. Furthermore, DPB caused by immunodeficiency and respiratory tract hypersensitivity associated with thymoma and HLA-B54, respectively, is the distinctive feature of our case. Neurologists should be aware that various organs can be damaged directly and indirectly by abnormal T cells from thymoma in patients with MG.
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PMID:[A case of myasthenia gravis with invasive thymoma associated with diffuse panbronchiolitis, alopecia, dysgeusia, cholangitis and myositis]. 2528 23

Extraocular muscle weakness occurs in most of the myasthenia gravis (MG) patients and it is often the initial complaint. Approximately 10-20% of MG patients with extraocular muscle weakness display only ocular symptoms and rest of the patients subsequently develop generalized muscle weakness. It is not entirely clear why some MG patients develop only ocular symptoms and why extraocular muscle weakness almost always precedes generalized muscle weakness. These facts are often explained by increased susceptibility of extraocular muscles due to their reduced endplate safety factor and lower complement inhibitor expression. Findings of a recently developed animal model of ocular MG suggest that additional factors might be in play. While immunization of HLA transgenic and wild-type (WT) mice with the native acetylcholine receptor (AChR) pentamer carrying conformational epitopes generates severe generalized muscle weakness, immunization of the same mouse strains with recombinant unfolded AChR subunits containing linear epitopes induces ptosis with or without mild generalized muscle weakness. Notably, immunization of mice with deficient T helper cell-mediated antigen presentation with recombinant AChR subunits or whole native AChR pentamer also induces ocular symptoms, AChR-reactive B cells and AChR antibodies. Based on these findings, we hypothesize that ocular symptoms observed in the earlier stages of MG might be triggered by linear and non-conformational AChR epitopes expressed by thymic cells or invading microorganisms. This initial AChR autoimmunity might be managed by T cell-independent and B cell mediated mechanisms yielding low affinity AChR antibodies. These antibodies are putatively capable of inducing muscle weakness only in extraocular muscles which have increased vulnerability due to their inherent biological properties. After this initial attack, as AChR bearing immune complexes form and the immune system gains access to the native AChR expressed by muscle and thymic myoid cells, a more robust anti-AChR autoimmunity develops giving way to high affinity AChR antibodies, thymic germinal center formation and severe generalized muscle weakness. Accurate characterization of chain if events leading to ocular and generalized symptoms in MG might enable development of novel therapeutics that might prevent the transition from mild ocular symptoms to severe generalized weakness in earlier stages of the disease.
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PMID:Are linear AChR epitopes the real culprit in ocular myasthenia gravis? 2811 Jun 92

A 17-year-old male underwent a second bone marrow transplantation using a 6/8 allele HLA-matched unrelated donor. On day 100 after transplantation, steroid treatment for chronic graft-versus-host disease (GVHD) was started. On day 766, the patient experienced general fatigue, followed by double vision, ptosis, and dysphagia on day 810. Based on the positivity of the acetylcholine receptor antibody and a waning electromyography pattern, he was diagnosed with GVHD-related myasthenia gravis (MG). On day 861, we initiated plasmapheresis (PE), followed by the administration of intravenous immunoglobulin (IVIg) ; this treatment attenuated the bulbar symptoms of MG. Although the steroid treatment was continued, we restarted the administration of tacrolimus. On day 2,739 after transplantation, we stopped the steroid treatment, and the patient remained in remission for MG following the cessation of the steroid treatment on day 2,897. This case suggests that PE followed by IVIg could be an effective therapeutic alternative for MG associated with GVHD.
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PMID:[Durable remission attained with plasmapheresis and intravenous immunoglobulin therapy in a patient with acute exacerbation of GVHD-related myasthenia gravis]. 2987 33

Spondyloarthropathy refers to any joint disease of the vertebral column, but the term is mainly used for a specific group of disorders called seronegative spondyloarthropathies (SpAs). The axial skeletal involvement, peripheral and extra-articular manifestations and an association with the major histocompatibility complex class I human leukocyte antigen-B27 (HLA B27) are commonly shared features of SpAs. Klippel-Feil syndrome (KFS) is a rare congenital disorder characterized by the fusion of one or more cervical vertebrae, accompanied by various skeletal and extra-skeletal anomalies. We report a case of an adult male patient with HLA B27 positivity presenting with chronic cervical spine pain accompanied by morning stiffness and periodic night pain, with radiologically confirmed ankylosis and fusion of several cervical segments. His medical history included urogenital abnormalities operated in childhood and mild mitral prolapse. Initially suspected diagnosis of an early axial form of SpA was rejected after thorough workup. Instead, the nature of vertebral defects along with the past medical history of urogenital and cardiac abnormalities pointed towards the diagnosis of KFS. HLA B27 presence can be a confounder in patients presenting with spinal pain and that is why the differential diagnosis of CSD-s and SpA can be challenging in some patients.
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PMID:Klippel-Feil syndrome misdiagnosed as spondyloarthropathy: case-based review. 3121 70


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