Relapsing-remitting painful ophthalmoplegia due to orbital myositis.
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We describe a woman with a long history of relapsing-remitting painful ophthalmoplegia in a seasonal pattern, due to an isolated orbital myositis that was--at our observation--classified in the context of the so-called SAPHO syndrome. She had been previously treated with corticosteroid therapy, but the association with immunosuppressive drugs produced a more prompt resolution of both the headache and ophthalmoplegia, and of the magnetic resonance imaging pictures of isolated myositis as well. (+info)
A case of complete ophthalmoplegia in herpes zoster ophthalmicus.
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PURPOSE: To report a case with complete ophthalmoplegia after herpes zoster ophthalmicus. METHODS: A 70-year-old male patient visited a clinic because of vesicular eruptions over the left side of his face with severe pain. Drooping and severe swelling of the left eyelid were present, along with keratitis and uveitis. While the lid swelling and uveitis were improving, external ophthalmoplegia and exophthalmos were discovered. Intramuscular injections of dexamethasone 5 mg were given for 10 days, followed by oral administration of prednisolone at a dosage of 15 mg for two weeks and 10 mg for two weeks. RESULTS: The patient was fully recovered from the complete ophthalmoplegia and exophthalmos six months after the onset of the cutaneous lesion. CONCLUSIONS: Complete ophthalmoplegia is a rare ophthalmic complication of herpes zoster infection. Therefore, an evaluation of extraocular muscle and lid function should be performed during the examination of herpes zoster patients in order to screen for ophthalmoplegia. (+info)
Eyelid leishmaniasis in a patient with neurogenic ptosis.
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A patient with chronic progressive external ophthalmoplegia contracted cutaneous leishmaniasis of the upper eyelid. Infection of this site is rare because eyelid movements usually prevent the sandfly vector from biting the skin there. It is postulated that the relative immobility of the upper eyelid in this patient was a major predisposing factor for the infection. (+info)
Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A.
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Congenital fibrosis of the extraocular muscles type 2 (CFEOM2) is a complex strabismus syndrome that results from mutations in the homeodomain transcription factor PHOX2A. To define the clinical and neuroimaging features of patients with this autosomal recessive syndrome, we studied 15 patients with genetically defined CFEOM2. All patients underwent full neurological, neuro-ophthalmological and orthoptic assessments. Twelve patients had pupillary pharmacological testing and nine had 3.0 tesla MRI of the brain, brainstem and orbits. Patients were born with severe bilateral ptosis and exotropia with almost complete bilateral absence of adduction, elevation, depression and intorsion. Variable abduction was present prior to strabismus surgery in 14 patients, and central ocular motility reflexes (smooth pursuit, saccades, vestibulo-ocular reflex and optokinetic reflex) were intact except for convergence. Pupillary light and near reflexes were not present, but irises were anatomically normal and responded to pupillary pharmacology. Neuroimaging of brain and brainstem was remarkable for the anatomical absence of cranial nerve (CN) 3 and probably CN 4 bilaterally. Therefore, the CFEOM2 phenotype and neuroimaging are both consistent with the congenital absence of CNs 3 and 4. Additional features included presence of most central ocular motility reflexes, a central lack of pupillary responsiveness of uncertain aetiology and modest phenotypic variability that does not correlate with specific PHOX2A mutations. Clinical presentation, neuroimaging and Phox2a-/- animal models all support the concept that CFEOM2 is a primary neurogenic abnormality with secondary myopathic changes. (+info)
Multiple cranial nerve palsies associated with type 2 diabetes mellitus.
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Although isolated cranial nerve palsies are common in patients with diabetes mellitus, multiple simultaneous cranial neuropathies are rare. We report a 48-year-old man, a known case of diabetes mellitus, who presented with facial palsy, foot drop and painful ophthalmoplegia of the left eye. The initial differential diagnosis included diabetic polyneuropathy, septic cavernous sinus thrombosis, mucormycosis and the Tolosa Hunt syndrome. Magnetic resonance (MR) imaging findings were consistent with those of the Tolosa Hunt syndrome. The patient had a remarkable complete resolution of his ophthalmoplegia after four weeks of steroid treatment, with repeat MR imaging showing resolution of the initial changes. (+info)
Visual loss in one eye after spinal surgery.
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PURPOSE: To report a patient who developed an unusual combination of central retinal artery occlusion with ophthalmoplegia following spinal surgery in the prone position. METHODS: A 60-year-old man underwent a cervical spinal surgery in the prone position. Soon after recovery he could not open his right eye and had ocular pain due to the general anesthesia. Upon examination, we determined that he had a central retinal artery occlusion with total ophthalmoplegia. RESULTS: Despite medical treatment, optic atrophy was still present at the following examination. Ptosis and the afferent pupillary defect disappeared and ocular motility was recovered, but visual loss persisted until the last follow-up. CONCLUSIONS: A prolonged prone position during spinal surgery can cause external compression of the eye, causing serious and irreversible injury to the orbital structures. Therefore, if the patient shows postoperative signs of orbital swelling after spinal surgery the condition should be immediately evaluated and treated. (+info)
Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis.
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Large-scale deletions of human mitochondrial DNA (mtDNA) have been described in a clinical subgroup of mitochondrial encephalomyopathies associated with progressive external ophthalmoplegia and ragged-red fibers in skeletal muscle, including cases of Kearns-Sayre syndrome (KSS). Since the decrease in the activities of mtDNA-encoded respiratory-chain enzymes did not seem to be correlated to the sites of the deletions, the role played by the mtDNA deletions in the pathogenesis of these disorders has been unclear. To address this issue, we studied transcription and translation of deleted mtDNA in two patients with KSS harboring two different deletions. We found that the deleted genomes were transcriptionally active in both cases. Analysis of translation in one of the patients showed that the "fusion" mRNA derived from the region spanning the deletion did not seem to be translated. Thus, the biochemical defects in KSS can be explained by a lack of translation of mtDNA-encoded respiratory-chain polypeptides in some mitochondria, which, in turn, is probably due to the lack of indispensable mtDNA-encoded tRNAs in these organelles. These results imply that deleted mtDNAs may be segregated from normal genomes in this group of diseases. It seems likely that the absence of translation in proliferating mitochondria containing partially deleted genomes plays a major role in the pathogenesis of these disorders. (+info)
Wernicke's encephalopathy in a patient with schizophrenia.
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Clinically, we most often associate Wernicke's encephalopathy (WE) with an alcohol abusing population. However, it is important to consider other causes of malnutrition and vitamin deficiency as risk factors for the development of this disorder. We present a case of a 51-year-old man with schizophrenia and malnutrition who presented with delirium, ophthalmoplegia, and seizures. He responded rapidly to the administration of IV thiamine. Because of the high rate of mortality and morbidity, WE should be high on the differential of any patient at risk for malnutrition or with ophthalmoplegia, regardless of alcohol history. This is particularly important in psychiatric patients where the syndrome may be masked and thus treatment delayed. (+info)