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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two typical cases of the Kearns and Shy syndrome are reported. Some of the authors have previously published observations on simple ocular myopathy and oculo-pharyngeal dystrophy associated with abnormalities of the mitochrondria in skeletal muscle cells. This disease, which is still called "ophthalmoplegia plus", combines a progressive external ophthalmoplegia, muscular defects and varied neurological signs with other symptoms particularly retinal, endocrine and cardiac. Histo-enzymological and ultra-structural studied of a fragment of skeletal muscle confirm the presence of mitochondrial anomalies.
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PMID:[Drachman's "ophthalmoplegia plus" or Kearns and Shy syndrome. Apropos of 2 cases with mitochondrial abnormality ultrastructurally demonstrated in the muscle]. 13 Aug 79

This report describes heart disease in a 32-year-old man with the syndrome of chronic progressive external ophthalmoplegia (CPEO). The surface electrocardiogram showed first degree AV block and left bundle-branch block and there was HV prolongation on the His bundle electrogram. Endomyocardial biopsy showed the changes of hypertrophy on light microscopy, and on electron microscopy there were increased numbers of mitochondria which appeared structurally normal. A permanent demand pacemaker was inserted because these patients are prone to develop complete heart block.
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PMID:Cardiac abnormalities in chronic progressive external ophthalmoplegia. 13 70

Two patients with unilateral painful ophthalmoplegia are presented, a woman of 26 and a man of 28. In both cases the phlebography of the orbit shows an alteration of the orbital veinous blood flow, specially of the third segment of the superior orbital vein. Another characteristic feature of this syndrom is efficiency of corticotherapy and heparinotherapy, which may suggest an inflammatory and thrombophlebitic origin.
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PMID:[Painful ophthalmoplegia and cavernous sinus syndrome of inflammatory origin (discussion of 2 cases)]. 15 11

Muscle biopsies from four patients with chronic progressive external ophthalmoplegia and pigmentary retinopathy with symptoms and signs from other organs were studied by means of light and electron microscopy. Examination revealed a marked proliferation of abnormal mitochondria with a degeneration of both muscle and nerve tissue. Blood levels of lactate and pyruvate were measured and abnormal values of these metabolites were found in the three patients with the most pronounced ultrastructural changes. On the basis of these findings it is suggested that there is a biochemical defect in pyruvate-lactate metabolism which could be responsible for the marked proliferation of the abnormal mitochondria.
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PMID:Progressive external ophthalmoplegia. Evidence for a generalised mitochondrial disease with a defect in pyruvate metabolism. 18 77

A clinically diagnosed case of progressive external ophthalmoplegia was biopsied and ultrastructurally evaluated. The disease was found to be characterized by numerous giant mitochondria. The intramitochondrial changes consisted of either swirls of cristae or of paracrystalline structures which were in apposition with the membranes of the cristae. The internal structure of the paracrystalline units consisted of parallel bands of material which were aligned in the same plane as the membranes of the related cristae.
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PMID:Mitochondrial abnormalities in progressive ophthalmoplegia. 18 88

The association of congenital ophthalmoplegia and facial paresis (Moebius syndrome) with a variety of other developmental somatic defects has been widely recognised. Its co-existence with hypogonadism of hypothalamic/pituitary origin and subclinical peripheral neuropathy has been reported and in this paper we describe the second case of the Moebius syndrome in association with hypogonadotrophic hypogonadism and a progressive peripheral neuropathy of mixed axonal and demyelinating type.
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PMID:Moebius syndrome, peripheral neuropathy and hypogonadotrophic hypogonadism. 20 51

A study was made of the retinal functions in 4 patients with chronic progressive external ophthalmoplegia, general myopathy, EEG anomalies and pigment changes of the fundus oculi (ophthalmoplegia-plus). Three of them exhibited typical, granular pigmentations in a linear or reticular arrangement at the periphery. All four showed slight to moderate pigment epithelial defects in the maculae, mostly only discernible with fluorescence angiography. In all 4 cases, a slight decrease of the visual acuity, a mildly abnormal ERG, mild concentric restriction of the field of vision and, in two cases, an abnormal dark-adaptation curve led to the conclusion of a mild diffuse, widely disseminated receptor affection of the retina (both rods and cones). The EOG appeared normal in 3, and at the lower limit of normal in 1 case. On the basis of a detailed study of the literature we can conclude that the retinal lesions in chronic progressive external ophthalmoplegia may vary from benign pigmentations without functional impairment to genuine 'retinitis pigmentosa' with all gradations of rod-cone or cone-rod dystrophy. Emphasis is laid on the possibility of a correlation between the mitochondrial abnormalities encountered in ocular myopathy and ophthalmoplegia-plus on the one hand, and the retinal abnormalities on the other, with special reference to a possible disorder of the utilization of pyruvate in the citric-acid cycle and a loose coupling of the oxidative phosphorylation.
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PMID:Pigment changes of the retina in chronic progressive external ophthalmoplegia (CPEO). 21 91

A case of an orbital metastasis from a bronchogenic neoplasm is described. The initial clinical presentation was of unilateral facial pain and paraesthesia shortly followed by increasing left-sided external ophthalmoplegia and proptosis and the development of a slight swelling of the left temporal fossa. The diagnosis was established by a biopsy of the temporal mass. The patient died two months after the diagnosis was established. The significance of facial pain and paraesthesia and the literature pertaining to orbital cellulitis and orbital metastases is discussed.
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PMID:Bronchogenic carcinoma metastasizing to the orbit. A case report. 21 88

A family was found to exhibit progressive external ophthalmoplegia, congenital cataracts, variable somatic weakness, gonadal dysgenesis, and, in one member, an abnormal chromosomal pattern. Muscle biopsy specimens showed "ragged-red" fibers; electron microscopy showed widespread paracrystalline mitochondrial inclusions. Orbicularis oculi reflex testing in the propositus showed bilateral absence of the late response. The family was evaluated in relation to other familial mitochondrial myopathies; a central defect in brain stem neural transmission was suggested as a mechanism for the progressive external ophthalmoplegia.
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PMID:A familial mitochondrial myopathy with central defect in neural transmission. 22 46

Two elderly patients had unilateral ophthalmoparesis and retrobulbar pain. Both had subtle lid signs of aberrant regeneration of the third nerve without proceding acute oculomotor paralysis, and both were found to have intracranial aneurysms. Although primary aberrant oculomotor regeneration has been reported previously in patients with aneurysms and meningiomas, the diagnostic importance of this sign in the elderly has not been emphasized. The presence of lid elevation on downgaze associated with slowly progressive ophthalmoplegia in patients aged 65 or older suggests aneurysm in or near the cavernous sinus.
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PMID:Primary aberrant oculomotor regeneration due to intracranial aneurysm. 22 47


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