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)

Six members of a family--the mother, three daughters, and two sons--have a unique syndrome consisting of congenital external ophthalmoplegia, bilateral facial weakness, lingua scrotalis, progressive chorioretinal sclerosis, and an intellectual deficit. Bilateral ptosis and almost complete ophthalmoplegia were found in three of the family members, bilateral facial weakness in two, and Parinaud's syndrome and convergence paresis in one. Electromyographically, a lesion of the lower motor neurons--"nuclear ophthalmoplegia"--was found. Three members of the family had different stages of progressive chorioretinal sclerosis and two had myopia. All the family members had lingua scrotalis, and all of those who had ophthalmoplegia had low IQs. Electroretinographic reactions were subnormal or absent in patients with chorioretinal degeneration. It was concluded that an extensive abiotrophic process, genetically conditioned, was a possibility.
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PMID:Progressive nuclear ophthalmoplegia associated with mental deficiency, lingua scrotalis, and other neurologic and ophthalmologic signs in a family. 116 9

In agreement with other clinical reports we observed in 20 patients that Parinaud's syndrome may be associated with other midbrain symptoms. Most frequently we found convergence insufficiency or pupillary changes. In contrast to textbooks in most cases that was an incomplete, absolute paralysis of pupillary constriction. Some patients had also paresis of the 3rd and 4th cranial nerve or lesions of the medial longitudinal fasciculus (internuclear ophthalmoplegia). All clinical patterns which we noted were understandable in view of the topographical relationship of their presumed lesions. However, none of the symptoms was invariably associated with Parinaud's syndrome.
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PMID:[Clinical patterns of Parinaud's syndrome (author's transl)]. 120 46

Several structures, located at different levels in the Central Nervous System (CNS), collaborate to the control and realization of ocular movements (O.M.) Therefore, alterations of oculomotricity, of varying degree and of different kinds, may be found in a lot of diseases of the CNS. The study of O.M., expecially when carried out by means of specific techniques such as electro-oculography, may represent an useful tool in the diagnosis (both from a topographic and an etiological standpoint) and in the follow-up of patients, possibly also allowing a precise evaluation of therapy effectiveness. In this review the Authors briefly examine the role of the supranuclear structures mostly involved in the control and in the execution of oculomotricity and the characteristics of the different types of O.M. (rapid and slow, vergence movements). Successively, they analyze the semeiological features of supra-nuclear disturbances of O.M., describing alterations of saccadic movements (slowing, dysmetria) and of smooth pursuit, fixation instability (square waves, flutter, opsoclonus, nystagmus,...) and other alterations of O.M. (ocular bobbing, see-saw nystagmus, skew deviation,...). Successively, disturbances of O.M. are analyzed in relation to their topodiagnostic significance, describing oculomotor involvements due to focal lesions of different areas of CNS (frontal cortex, parieto-occipital cortex, basal ganglia, cerebellum, brainstem) and particular syndromes (Foville syndromes, locked-in syndrome, Parinaud syndrome, anterior internuclear ophthalmoplegia, "one and a half" syndrome, Balint syndrome,...). Finally, particular attention is drawn to the oculomotor disturbances observed in degenerative cerebellar and multisystemic diseases, and several abnormal "oculomotor patterns", which seem to be specifically related to particular diseases, are described. In particular, the oculomotor patterns of Steele-Richardson-Olszewsky disease (slowing and hypometria of horizontal saccades, loss of upward saccades with preservation of reflex movements) and of Friedreich ataxia (fixation instability mostly due to the occurrence of square waves, saccadic dysmetria, impairment of smooth pursuit) are stressed.
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PMID:[The physiopathology of supranuclear structures in oculomotor disorders]. 219 86

Four cases of gaze paresis occurred in association with viral disease. In three cases the viral prodrome preceded the oculomotor disturbance. In one, gaze palsy was followed several days later by a viral syndrome. One had isolated bilateral horizontal ophthalmoplegia; another patient had motility disturbance with blepharoptosis and peripheral areflexia. Two patients had clinical evidence of brain-stem involvement: unilateral gaze paresis and gaze-evoked nystagmus in one and Parinaud's syndrome in the other. No accompanying long-tract signs or changes in mental status were present in any case. Recovery was complete in all four patients.
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PMID:Gaze palsy associated with viral syndrome. 403 36

There are a myriad of conditions producing abnormal OKN responses. In most of these conditions the diagnosis can be made without recourse to OKN. However, in the five conditions described in this paper (suspected poor visual acuity in infants and young children, parietal lesions, subclinical internuclear ophthalmoplegia, Parinaud's syndrome, and aberrant regeneration of the third nerve) OKN can greatly facilitate the diagnosis. A review of the neural pathways of the OKN response and an explanation of the various equipment and techniques used to assess OKN are included.
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PMID:Optokinetic nystagmus: a review of pathways, techniques and selected diagnostic applications. 714 32

Controversy regarding the nosological position of the syndrome of ophthalmoplegia, ataxia and areflexia (Miller Fisher syndrome) exists. The oculomotor dysfunction was presumed to represent an unusually symmetrical peripheral cranial nerve dysfunction. To investigate the neuro-ophthalmic manifestations in this rare syndrome we reviewed 109 reports describing 243 cases. The ophthalmoplegia was remarkable in its constant association with a cerebellar type ataxia. It was described to be remarkably symmetrical at all stages of development and recovery. From the early description of the syndrome by Fisher the ophthalmoplegia was observed to evolve as a symmetrical failure of upgaze followed by loss of lateral gaze and last by downgaze, recovery develops in the opposite pattern. Despite the severe nature of the ophthalmoplegia, 58 patients were reported to have sparing of downgaze and 192 (79%) had relative sparing of the eye lids. Active lid retraction and preserved Bell's phenomenon, despite upgaze paralysis, were described in 22 and 15 patients respectively. Upper lid jerks were described in 2, Parinaud's syndrome in 2, convergence spasm in 6, internuclear ophthalmoplegia in 15 and horizontal dissociated nystagmus in 11. Interestingly 23 were reported to present with paralysis of abduction progressing to lateral gaze paralysis and 5 had paralysis of abduction and contralateral gaze paralysis. Four had defective vestibulo-ocular reflex despite recovery of upgaze, 10 had central type nystagmus including rotatory, retractory and rebound nystagmus. Relative preservation of optokinetic nystagmus and preservation of vestibulo-ocular reflex despite an otherwise complete ophthalmoplegia were reported in 6 and 2 patients respectively.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Neuro-ophthalmic manifestations of the syndrome of ophthalmoplegia, ataxia and areflexia: a review. 803 Mar 96

Brainstem involvement by Toxoplasma gondii is probably more common than other opportunistic infections, although it has not received adequate attention. Identification of toxoplasmosis is essential, as this condition responds to treatment with a significant increase in life expectancy. During the past 4 years, 366 AIDS patients with central nervous system toxoplasmosis diagnosed by biopsy or improvement following empirical treatment were evaluated. Among them, 8 (7 men, 1 woman; aged 25-55 yr) presented with signs of brainstem dysfunction. Six patients presented with an oculomotor nerve palsy and contralateral hemiplegia; 1 had an additional ipsilateral rubral tremor. The seventh patient had complete external ophthalmoplegia and the eighth had Parinaud's syndrome. Computed tomography revealed enhancing lesions in the brainstem of all patients. Seven responded to treatment with pyrimethamine and sulfadiazine.
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PMID:Brainstem toxoplasmosis in patients with acquired immunodeficiency syndrome. 818 35

Dysthyroid orbitopathy (DO) is an autoimmune disorder usually associated with Graves' disease. The extra-ocular muscles are the target of the autoimmune attack. As a result, they become enlarged, producing restrictive ophthalmoplegia and proptosis. Other cardinal signs of DO include upper eyelid retraction and lag, conjunctival injection and chemosis, and periorbital edema. Visual loss may occur if the enlarged extra-ocular muscles compress the optic nerve in the orbital apex. These cardinal signs may mimic neurological conditions, including Parinaud's syndrome, sixth nerve palsy, carotid-cavernous fistula, and spheno-orbital meningioma. Treatment is directed at the cardinal signs and is largely palliative. Under certain clinical conditions, judicious use of corticosteroids, radiation therapy, or surgery designed to decompress the orbit, correct strabismus, or restore normal lid position may help to restore visual function.
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PMID:Dysthyroid orbitopathy. 1087 76