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A 34-year-old woman had suffered from systemic lupus erythematosus (SLE) and autoimmune hemolytic anemia (AIHA) in the teen age. She developed progressive ptosis of the eyelids, and difficulty in swallowing and speaking for several years. Endocrinological studies showed primary hypothyroidism. A serum IgG level was elevated (1,973 mg/dl), and antinuclear antibody, thyroid test and microsome test were positive. A muscle biopsy showed massive inflammatory cell infiltrates in the perivascular area in addition to some myopathic change; some variation in fiber size. Immunological staining demonstrated most of these inflammatory cell infiltrates were CD3+ cells and CD4+ cells were counted more than CD8+ cells (CD4/CD8 = 2.3). The diagnoses were confirmed as oculopharyngeal myopathy and Hashimoto's disease. In addition, she had suffered from SLE and AIHA. Therefore we conclude that manifestation of this myopathy may be associated with some autoimmune process.
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PMID:[Oculopharyngeal myopathy with autoimmune disease]. 833 98

A 35-year-old woman with features of Kearns-Sayre syndrome consisting of progressive ptosis, ophthalmoparesis, mitochondrial myopathy, and pigmentary retinopathy also had autoimmune polyglandular syndrome type 11 (Addison's disease, autoimmune insulin-dependent diabetes mellitus, Hashimoto's thyroiditis, and primary ovarian failure). There was no history of similarly affected relatives. Analysis of muscle mitochondrial DNA (mtDNA) revealed a 2,532-bp deletion of the type seen in Kearns-Sayre syndrome as well as a heteroplasmic A3243G mutation in the tRNA-Leu(UUR) gene of the type seen in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). The patient's blood and her mother's blood harbored the A3243G mutation but not the deletion, and the maternal grandmother's blood had neither mutation. In muscle, the species of mtDNA harboring the deletion was exclusively associated with the species harboring the A3243G mutation, suggesting that the point mutation predisposed to the large-scale deletion. The mtDNA species with both mutations accounted for 88% of total muscle mtDNA. Other and as yet unrecognized point mutations in mtDNA might also be associated with, and possible causally related to, large-scale mtDNA deletions.
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PMID:MELAS- and Kearns-Sayre-type co-mutation [corrected] with myopathy and autoimmune polyendocrinopathy. 865 48

Thyroid-associated orbitopathy (TAO) is a self-limiting auto-immune condition usually associated with Grave's disease. It is characterised by ocular pain, eyelid swelling, chemosis, proptosis and keratopathy. As the mechanism for ophthamoplegia and optic neuropathy is the orbital swelling leading to mechanical restriction of ocular muscles and compression of optic nerve, one expects proptosis rather than ptosis in TAO. We describe a case of a young adult woman who presented with acute onset restriction of movement along with partial ptosis and severe diminution of vision in left eye. The MRI of orbit revealed significant swelling of recti along with signal alteration consistent with TAO. The radio-isotope thyroid scan revealed thyroiditis, and thyroid peroxidase (TPO) antibody was significantly high; hence, the diagnosis of Hashimoto thyroiditis was considered. A course of intravenous methylprednisolone followed by oral steroid was administered, which produced marked improvement in vision and extraocular movement.
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PMID:Thyroid associated orbitopathy. 2373 89

Myasthenia gravis is an autoimmune disease due to specific antibodies inducing a neuromuscular transmission defect causing muscle fatigability. If onset of the disease may be at any age, myasthenia gravis concerns mostly young adults, in majority females. The disease characteristic features are the following: ocular symptoms (ptosis or diplopia) as main initial manifestation, extension to other muscles in 80 % of the cases, variability of the deficit, effort induced worsening, successive periods of exacerbation during the disease course, severity depending on respiratory and swallowing impairment (if rapid worsening, a myasthenic crisis is to be suspected), association with thymoma in 20 % of patients and with other various autoimmune diseases, most commonly hyperthyroidism and Hashimoto's disease. Diagnosis relies on the clinical features, improvement with cholinesterase inhibitors, detection of specific autoantibodies (anti-AChR or anti-MuSK), and significant decrement evidenced by electrophysiological tests. The points concerning specifically the internist have been highlighted in this article: diagnostic traps, associated autoimmune diseases, including inflammatory myopathies that may mimic myasthenia gravis, adverse effects of medications commonly used in internal medicine, some of them inducing myasthenic syndromes. The treatment is well codified: the treatment is well codified: (1) respect of adverse drugs contra-indications, systematically use of cholinesterase inhibitors, (2) thymectomy if thymoma completed with radiotherapy if malignant, (3) corticosteroids or immunosuppressive agent in severe or disabling form, (4) intensive care unit monitoring, plasmapheresis or intravenous immunoglobulins for patients with myasthenic crisis.
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PMID:[Myasthenia, from the internist's point of view]. 2411 93

Myasthenia gravis is characterized by muscle weakness and abnormal fatigability. It is an autoimmune disease caused by the presence of antibodies against components of the muscle membrane localized at the neuromuscular junction. In most cases, the autoantibodies are against the acetylcholine receptor (AChR). Recently, other targets have been described such as the MuSK protein (muscle-specific kinase) or the LRP4 (lipoprotein related protein 4). Myasthenia gravis can be classified according to the profile of the autoantibodies, the location of the affected muscles (ocular versus generalized), the age of onset of symptoms and thymic abnormalities. The disease generally begins with ocular symptoms (ptosis and/or diplopia) and extends to other muscles in 80% of cases. Other features that characterize MG include the following: variability, effort induced worsening, successive periods of exacerbation during the course of the disease, severity dependent on respiratory and swallowing impairment (if rapid worsening occurs, a myasthenic crisis is suspected), and an association with thymoma in 20% of patients and with other autoimmune diseases such as hyperthyroidism and Hashimoto's disease. The diagnosis is based on the clinical features, the benefit of the cholinesterase inhibitors, the detection of specific autoantibodies (anti-AChR, anti-MuSK or anti-LRP4), and significant decrement evidenced by electrophysiological tests. In this review, we briefly describe the history and epidemiology of the disease and the diagnostic and clinical classification. The neonatal form of myasthenia is explained, and finally we discuss the main difficulties of diagnosis.
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PMID:Diagnostic and clinical classification of autoimmune myasthenia gravis. 2453 Feb 33

History A 29-year-old woman presented with a 6-month history of progressive general fatigue, fluctuating limb weakness, and difficulty climbing stairs. She initially experienced occasional episodes of transient diplopia that developed while reading in the evening. She subsequently started to experience dry eyes and mouth, difficulty chewing, and mild dysphagia that worsened throughout the day. Her medical history included hypothyroidism from Hashimoto thyroiditis and pneumonia with left pleural effusion. She had no smoking history, and her body mass index was normal (23.8 kg/m2). No medication use was reported at admission. Physical examination revealed mild bilateral ptosis, reduced muscle tone and strength that worsened in proximal leg muscles, and decreased deep tendon reflexes. An edrophonium test revealed improvement in muscle strength and eyelid ptosis. Repetitive nerve stimulation revealed low amplitude of compound muscle action potential at rest (0.21 mV), with a marked increase (700%; normal increase, <60%) at high-rate stimulation (50 Hz). Laboratory work-up was unremarkable except for detection of acetylcholine receptor antibodies in the serum (21.30 nmol/L) and P/Q-type voltage-gated calcium channel antibodies (220 pmol/L). Recent MRI of the brain and spine at an outside hospital showed no abnormal findings. At admission, the patient underwent CT of the chest, abdomen, and pelvis ( Fig 1 ) followed by thoracic MRI ( Figs 2 , 3 ) to further evaluate CT findings. [Figure: see text][Figure: see text][Figure: see text][Figure: see text][Figure: see text][Figure: see text][Figure: see text][Figure: see text].
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PMID:Case 261. 3012 24

History A 29-year-old woman presented with a 6-month history of progressive general fatigue, fluctuating limb weakness, and difficulty climbing stairs. She initially experienced occasional episodes of transient diplopia that developed while reading in the evening. She subsequently started to experience dry eyes and mouth, difficulty chewing, and mild dysphagia that worsened throughout the day. Her medical history included hypothyroidism from Hashimoto thyroiditis and pneumonia with left pleural effusion. She had no smoking history, and her body mass index was normal (23.8 kg/m2). No medication use was reported at admission. Physical examination revealed mild bilateral ptosis, reduced muscle tone and strength that worsened in proximal leg muscles, and decreased deep tendon reflexes. An edrophonium test revealed improvement in muscle strength and eyelid ptosis. Repetitive nerve stimulation revealed low amplitude of compound muscle action potential at rest (0.21 mV), with a marked increase (700%; normal increase, <60%) at high-rate stimulation (50 Hz). Laboratory work-up was unremarkable except for detection of acetylcholine receptor antibodies in the serum (21.30 nmol/L) and P/Q-type voltage-gated calcium channel antibodies (220 pmol/L). Recent MRI of the brain and spine at an outside hospital showed no abnormal findings. At admission, the patient underwent CT of the chest, abdomen, and pelvis followed by thoracic MRI to further evaluate CT findings.
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PMID:Case 261: Thymoma Embedded in Thymus with Pleural Implant in Myasthenia Gravis Lambert-Eaton Overlap Syndrome. 3057 77

Ocular myasthenia gravis (Ocular MG, OMG) shares many clinical features with thyroid-associated orbitopathy or thyroid-associated ophthalmopathy (TAO). In the rare instance of their coexistence, clinicians may fail to diagnose ocular MG when TAO is also present. Here we report the case of a patient with both TAO and ocular MG, whose "hyperthyroidism"-most likely the hashitoxicosis variant of Hashimoto's thyroiditis-rapidly transformed to hypothyroidism after radioactive iodine therapy. This is reminiscent of a previous case of a patient with MG, in whom disease onset coincided with the methimazole-induced transformation from hyper- to hypothyroidism. It is possible that the same transformation from "hyper-" to hypothyroidism, which occurred after radioactive iodine therapy and was accompanied by hypothyroidism-associated orbitopathy (ophthalmopathy), may have induced the development of myasthenia gravis in our patient. The hypothyroidism may have been caused by the radioactive iodine therapy and/or it may simply reflect the natural course of the hashitoxicosis variant of Hashimoto's thyroiditis. The co-occurrence of hypothyroidism, hypothyroidism-associated orbitopathy (ophthalmopathy) and ocular MG has never been reported. Our case highlights the need for clinicians to focus on overlapping symptoms of hyperthyroidism and the hashitoxicosis variant of Hashimoto's thyroiditis, and to carefully differentiate between them, especially when deciding on radioactive iodine therapy. In addition, our case highlights that the possible co-occurrence of TAO should be considered when a patient with thyroid disease displays both ptosis and eye movement dysfunction, and when only the ptosis is dramatically resolved after treatment with pyridostigmine bromide.
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PMID:Rare Co-occurrence of Ocular Myasthenia Gravis and Thyroid-Associated Orbitopathy (Ophthalmopathy) in an Individual With Hypothyroidism. 3080 98