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)

The clinical and pathological findings in a 58-year-old Japanese man suffering from type III Machado-Joseph disease are reported. The patient became affected at the age of 50 years and presented cerebellar ataxia, progressive external ophthalmoplegia and muscular atrophy, although extrapyramidal signs were never detected throughout the whole course of his disease. His mother, sister and son presented progressive ataxia in the third or fourth decade. The mode of inheritance is considered to be autosomal dominant. Pathological examination revealed severe involvement of the dentato-rubral, ponto-cerebellar and subthalamopallidal systems, spinocerebellar tracts and Clarke's column, cranial motor nuclei including the oculomotor systems and anterior horn cells. The involvement of the substantia nigra was relatively mild, and the nerve cells in the inferior olivary nucleus were well preserved. The distal portion of peripheral nerves was severely damaged. Although the striking feature of Machado-Joseph disease is a considerable variability in the individual clinical expression, there have not been many autopsied cases of this disease and efforts to clarify the clinico-pathological correlation in each phenotype have scarcely been made. Relatively mild changes in the substantia nigra and severe involvement of the peripheral nervous system, as in our case, may be the pathological hallmarks of the type III disorder.
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PMID:Type III Machado-Joseph disease in a Japanese family: a clinicopathological study with special reference to the peripheral nervous system. 274 50

A 63-year-old man presented six days after the sudden onset of horizontal double vision. His left eye became divergent two days later. On initial examination he had bilateral internuclear ophthalmoplegia with weakness of adduction and abducting nystagmus. Convergence was weak but there were no other neuro-ophthalmic signs. Constitutional signs included confusion and unsteadiness on his feet. A provisional diagnosis of arteritis was made. His ESR was 92 mm/h and a superficial temporal artery biopsy confirmed the diagnosis of giant cell arteritis. After two weeks or oral prednisolone his eye movements returned to normal. There have been no further relapses. This would appear to be a unique presentation of giant cell arteritis. The causes of internuclear ophthalmoplegia are discussed along with a review of the ocular and neuro-ophthalmic signs of giant cell arteritis.
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PMID:Bilateral internuclear ophthalmoplegia--an unusual initial presenting sign of giant cell arteritis. 276 84

A 48-year-old male developed fever and sore throat while in Spain and was admitted to hospital, dehydrated, ketotic, pyrexial, and with a blood glucose of 35 mmol/l. Despite treatment with intravenous fluids, insulin, cephalosporin, potassium and bicarbonate he returned to Britain 7 days later, underhydrated and acidotic, though euglycaemic. His face was discoloured, there was painless nasal and maxillary swelling, oral candidiasis, and he went on to develop ophthalmoplegia and sudden blindness. Staphylococcus albus and mycelial fungus were isolated, the latter was identified as Mucor hiemalis, but despite treatment with amphotericin B co-ordinated with radical maxillary-facial surgery he died 31 days after the initial symptoms. Rhinocerebral mucormycosis is a recognized complication of ketoacidosis which is rarely reported in the UK. The organism invades arteries aggressively, therefore radical therapy must be started early to prevent the high mortality.
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PMID:Fatal rhinocerebral mucormycosis in newly diagnosed diabetic. 295 Nov 84

We report 2 brothers with progressive ataxia, seizures, myoclonus, supranuclear ophthalmoplegia, progressive visual loss and embolic strokes. The epilepsy and myoclonus came on many years after the onset of the ataxia. In the more severely affected brother the myoclonus was often unilateral and focal but ultimately involved both sides of the body. His sibling had only unilateral myoclonus after a contralateral middle cerebral artery stroke. When focal, persistent and unilateral, the myoclonus in both brothers was clinically similar to epilepsia partialis continua except that muscles of the trunk and proximal limbs were the most affected. It was exacerbated by movement of the affected part but was otherwise not stimulus sensitive. The more severely affected brother had a pigmentary retinopathy and a cardiac fibromyxoid valvulopathy. In his sibling, visual loss was not fully investigated and the heart was not examined at autopsy though he had a longstanding heart murmur. Neuropathological studies showed pancerebellar cortical atrophy, cell loss in the inferior olivary nuclei and old right middle cerebral artery infarctions in both brothers. Biochemical assays for known metabolic diseases were negative. We suggest that this syndrome represents a unique autosomal recessive form of progressive myoclonus epilepsy of unclear aetiology. It is distinguished from other familial myoclonus epilepsies by the presence of early onset cerebellar ataxia, supranuclear ophthalmoplegia, pigmentary retinopathy and possibly cardiac valvulopathy with subsequent cerebral emboli.
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PMID:Myoclonus epilepsy in two brothers. Clinical features and neuropathology of a unique syndrome. 308 70

Kearns-Sayre syndrome is clinically defined by progressive external ophthalmoplegia, atypical retinitis pigmentosa and the potential occurrence of complete atrioventricular (AV) block. Right septal endomyocardial biopsy specimens from nine patients (four men and five women with a mean [+/- SD] [corrected] age of 36.3 +/- 14.4 years) with chronic progressive external ophthalmoplegia and mitochondrial skeletal myopathy were studied. Three patients had atypical retinal pigmentation. An atrioventricular or intraventricular conduction defect was observed in five patients. A pacemaker was prophylactically implanted in one patient because of abnormal conduction distal to the His bundle. Ultrastructural investigations revealed mitochondriosis in many heart muscle cells and an increased variability of mitochondrial form and size in all patients. In seven patients, 0.4 to 2.1% of all examined myocytes contained exclusively abnormal mitochondria. Three main types were observed: huge, mainly round mitochondria with concentric cristae; large, round or oval mitochondria with transverse or curved cristae; and small, vacuolated mitochondria. The volume density of myofibrils was reduced (41.9 +/- 11.1 compared with the normal value of 56.5 +/- 2.5 volume density [in percent], p less than 0.01) in these myocytes. Increasing numbers of vacuolated mitochondria correlated significantly with a reduction of myofibrils (r = -0.64, p less than 0.01). The data suggest that the ventricular myocardium of most patients with complete and even incomplete Kearns-Sayre syndrome is affected by disseminated mitochondrial cytopathy.
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PMID:Ultrastructural findings in endomyocardial biopsy of patients with Kearns-Sayre syndrome. 319 50

The Kearns-Sayre syndrome is combined with a progressive external ophthalmoplegia (PEO), retinal pigmentary degeneration and heart block. In some patients, progression of incomplete forms has been described and potentially fatal conduction disturbances may occur. The disease is considered as a systemic mitochondrial disorder. As part of an ongoing prospective study 6 patients (3 female, 3 male; age 32 +/- 9 years) with PEO and typical ultrastructural changes of a mitochondrial myopathy in their skeletal muscle were examined. The ECG disclosed atrio/intraventricular conduction defects in 5 patients: 1 patient had a third degree AV block which was treated by a pacemaker. Another patient had left anterior fascicular block with complete right bundle branch block. In 3 other patients an incomplete right bundle branch block was registered. In 1 patient, His-bundle electrography disclosed a block distal to His by atrial high rate pacing before and after i.v. injection of ajmaline; prophylactically a pacemaker was implanted. The mean HV-interval increased significantly under ajmaline by 44% in patients with sinus rhythm. Hemodynamic studies were normal in 5 patients at rest; only 1 patient was abnormal during exercise. Myocardial biopsy demonstrated mitochondrial abnormalities such as variability in shape and size. In 4 patients concentric cristae mitochondriales were seen. Our results suggest that atrioventricular conduction defects are common in patients with PEO. By means of endomyocardial catheterbiopsy a mitochondrial cardiomyopathy could be detected.
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PMID:[Heart involvement in progressive external ophthalmoplegia (Kearns-Sayre syndrome): electrophysiologic, hemodynamic and morphologic findings]. 370 87

The Kearns-Sayre syndrome is an uncommon disease, characterized by the triad of external ophthalmoplegia, retinitis pigmentosa, and heart block. Cardiac manifestations of this syndrome in a 31-year-old man are presented. Electrocardiogram revealed intermittent left bundle branch block and right bundle branch block with left anterior hemiblock. His bundle recording disclosed a prolonged HV interval. Clinical features of the syndrome are discussed and other published cases reviewed.
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PMID:Conduction disturbances in the Kearns-Sayre syndrome. 376 90

A 21 year old patient was operated for bilateral ptosis and external ophthalmoplegia at 13 years of age. At this time there were no signs of retinitis pigmentosa or atrioventricular block, features of the Kearns and Sayre Syndrome (1958) which were detected five years later. His bundle recording showed an intrahisian block (1 degree proximal and a complete distal block) with a trifascicular block, the latter persisting alone during a brief return to sinus rhythm. This is one of the rare cases of the Kearns and Sayre Syndrome with documented His bundle recordings and the only reported case with intrahisian block. The patient also suffered from bilateral neural deafness. The patient's condition remains stable after implantation of an isotopic cardiac pacemaker and he now leads a normal life. A review of 52 previously published cases shows that this rare condition appears to be caused by a mitochondrial abnormality, which, for an unknown reason, affects only the neuromuscular and cardiac conduction systems. The prognosis is poor when swallowing and respiration are affected, but this does not occur in all cases. As cardiac conduction abnormalities are the other life-threatening complication, cardiac pacing has greatly improved the prognosis of these patients.
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PMID:[Auriculo-ventricular block in the Kearns-Sayre syndrome. Apropos of a case]. 640 30

A 71-year-old man suffered from left-side throbbing headache over the region of the fifth cranial nerve first division, followed by left ptosis and ophthalmoplegia. Under tentative diagnosis of Tolosa-Hunt syndrome (THS), oral prednisolone 60 mg was given daily. His headache and ophthalmoplegia dramatically improved within 24 hours. Magnetic resonance (MR) imaging and computed tomography (CT) of the head were negative. However, irregularity in the siphon of the left internal carotid artery was disclosed by angiography. This case illustrates that angiography may be useful in diagnosing THS, when CT and MR imaging are negative.
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PMID:Angiographic findings in Tolosa-Hunt syndrome: a case report. 764 Nov 28

The paper describes Kearns-Sayre's syndrome, a rare hereditary neuromuscular disease, in a patient aged 17 years. The clinical picture of the disease had a classical triad: external ophthalmoplegia, pigmentary retinopathy, and cardiac conduction disturbances. This triad was supplemented with other polymorphous symptoms characteristic of the syndrome, such as moderate myopathic syndrome, hemeralopia, physical infantilism, hypogonadism, pyramidal syndrome. Bifascicular block in the His-Purkinje system was accompanied by mitral prolapse. The problems of early diagnosis of the syndrome and choice of adequate therapeutical methods are discussed.
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PMID:[The Kearns-Sayre syndrome]. 815 11


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