Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In myasthenia gravis autoantibodies target components of the neuromuscular junction causing variable degrees of weakness. In most cases, autoantibodies trigger complement-mediated endplate damage and extraocular muscles may be most susceptible. A proportion of MG cases develop treatment-resistant ophthalmoplegia. We reviewed publications spanning 65 years reporting the histopathological findings in the muscles and extraocular muscles of myasthenic patients to determine whether pathological changes in extraocular muscles differ from non-ocular muscles. As extraocular muscles represent a unique muscle allotype we also compared their histopathology in myasthenia to those in strabismus. We found that in myasthenia gravis, the non-ocular muscles frequently demonstrate neurogenic changes regardless of myasthenic serotype. Mitochondrial stress/damage was also frequent in myasthenic muscles and possibly more evident in muscle-specific kinase antibody-positive MG. Although myasthenia-associated paralysed extraocular muscles demonstrated prominent fibro-fatty replacement and mitochondrial alterations, these features appeared commonly in paralysed extraocular muscles of any cause. We postulate that extraocular muscles may be more susceptible than limb muscles to poor contractility as a consequence of myasthenia, resulting in a cascade of atrophy signaling pathways and altered mitochondrial homeostasis which contribute to the tipping point in developing treatment-resistant myasthenic ophthalmoplegia. Early strategies to improve force generation in extraocular muscles are critical.
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PMID:A review of the histopathological findings in myasthenia gravis: Clues to the pathogenesis of treatment-resistance in extraocular muscles. 3102 32

A 69-year-old woman presented with acute bilateral ptosis, ophthalmoplegia, ataxia, and hyporeflexia in the extremities following an antecedent upper respiratory infection. We suspected that she had Miller Fisher syndrome (MFS) and performed an edrophonium test (ET) to rule out myasthenia gravis (MG). Edrophonium chloride improved the patient's bilateral ptosis, but not her ophthalmoplegia. Given the absence of the waning phenomenon on electrophysiological examination, the anti-acetylcholine receptor antibody, and a diurnal variation of symptoms, we concluded that the ET result was a false-positive. A diagnosis of MFS was confirmed by the presence of a positive anti-GQ1b antibody. To our knowledge, this is the first case report of MFS with a false-positive ET.
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PMID:[A case of Miller Fisher syndrome with a false-positive edrophonium test]. 3114 7

Paralytic strabismus in children is rare, occurring in about 0.1% of children. This rate is far less common than the 3% rate usually noted for comitant strabismus. The relative rates of ocular motor pareses were fourth nerve palsies in 36%, sixth in 33%, third in 22%, with multiple ocular motor nerve palsies in 9%. In a single population series from Minnesota, few cases were associated with neoplasm. However, institutional case series reports a high rate of neoplasm for acquired third nerve and sixth nerve palsies after excluding trauma and congenital causes. Tumor is rare in children with fourth cranial nerve palsies, usually associated with other neurologic disease. Rare causes of external ophthalmoplegia, to be considered when the motility pattern is variable or not fitting an ocular motor nerve pattern, include myasthenia gravis and congenital fibrosis of the extraocular muscles. Myasthenia most often presents as ptosis with exotropia. Rarer still is involvement of the extraocular muscles in childhood thyroid disease.
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PMID:Don't Miss This! Red Flags in the Pediatric Eye Examination: Ophthalmoplegia in Childhood. 3132 57

Here, we describe a 79-year-old man, admitted to our unit for worsening diplopia and fatigue, started a few weeks after an episode of bronchitis and flu vaccination. Past medical history includes myasthenia gravis (MG), well-controlled by Pyridostigmine, Azathioprine, and Prednisone. During the first days, the patient developed progressive ocular movement abnormalities up to complete external ophthalmoplegia, severe limb and gait ataxia, and mild dysarthria. Deep tendon reflexes were absent in lower limbs. Since not all the symptoms were explainable with the previous diagnosis of myasthenia gravis, other etiologies were investigated. Brain MRI and cerebrospinal fluid analysis were normal. Electromyography showed a pattern of predominantly sensory multiple radiculoneuritis. Suspecting Miller Fisher syndrome (MFS), the patient was treated with plasmapheresis with subsequent clinical improvement. Antibodies against GQ1b turned out to be positive. MFS is an immune-mediated neuropathy presenting with ophthalmoplegia, ataxia, and areflexia. Even if only a few cases of MFS overlapping with MG have been described so far, the coexistence of two different autoimmune disorders can occur. It is always important to evaluate possible differential diagnosis even in case of known compatible diseases, especially when some clinical features seem atypical.
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PMID:Ophthalmoplegia Due to Miller Fisher Syndrome in a Patient With Myasthenia Gravis. 3145 30

Myasthenia gravis can mimic central neurological disorders and should be considered in the differential diagnosis of any form of pupil-sparing ophthalmoplegia. We report an unusual manifestation of myasthenia gravis presenting as bilateral internuclear ophthalmoplegia (INO) of abduction, sometimes referred to as Lutz posterior INO (or reverse INO).
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PMID:Myasthenia Gravis Presenting as Lutz Posterior Internuclear Ophthalmoplegia. 3152 90

Myasthenia gravis (MG) is a rare and treatable antibody-mediated autoimmune disease. Pseudo internuclear ophthalmoplegia (-INO) or pyramidal tract damage is rarely observed in MG, and there were no known cases of MG with both pseudo-INO and pyramidal tract damage. Here, we report a case of a 61-year-old female suffering from MG accompanied by pseudo-INO and pyramidal tract damage with a rapid progressive course. Her blood and cerebrospinal fluid (CSF) tests were normal, except for the presence of the anti-acetylcholine receptor antibody. CT and contrast enhancement of the chest showed a thymic involution. MRI and contrast enhancement images of the brain and whole spine were normal. Both the clinical response to the administration of neostigmine and the repetitive nerve stimulation test were positive. The motor evoked potentials at lower limb recordings were normal. According to her signs, symptoms, decrementing response on repetitive stimulation test, elevated anti-acetylcholine receptor antibody and positive response to neostigmine, the patient was diagnosed as having MG. After treatment with pyridostigmine, intravenous immunoglobulin, prednisone acetate tablets and methotrexate, all her symptoms disappeared, including pseudo-INO and pyramidal tract damage. To our best knowledge, this is the first report of a case of MG with both pseudo-INO and pyramidal tract damage. Based on our case and a review of the literature, we propose that pyramidal tract damage and pseudo-INO can be two signs of MG, and that MG can cause damage to other systems besides neuromuscular junctions.
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PMID:Myasthenia Gravis With Reversible Pyramidal Tract Damage and Pseudo Internuclear Ophthalmoplegia. A Case Report and Literature Review. 3155 14

Ischaemic oculomotor nerve (CN III) palsies frequently present with abrupt onset ptosis, ophthalmoplegia, diplopia, ipsilateral pain, and little to no anisocoria. An isolated microvascular ischaemic insult to the superior division of CN III is uncommon, and usually affects both the superior rectus and levator muscles. We present a rare case of an ischaemic CN III palsy isolated to the levator palpebrae superioris muscle only. Although rare, microvascular ischaemic CN III palsies should be on the differential of isolated ptosis. Other causes of isolated ptosis, such as myasthenia gravis or an orbital lesion, should be excluded.
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PMID:Ischaemic Oculomotor Nerve Palsy Isolated to the Levator: A Case Report. 3216 98


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