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)

Total external ophthalmoplegia, unresponsive to caloric stimulation, was observed in a gravid woman who had ingested approximately 1.0 to 1.5 gm of amitriptyline. The intravenous administration of 4.0 mg physostigmine salicylate (PS) produced a revival of consciousness and reflex activity but had no appreciable effect on ocular motility. A prior case report of amitriptyline-induced ophthalmoplegia in a patient who took lesser amounts of the medication described immediate restoration of eye movement with only 2 mg of intravenous PS. The action of the amitriptyline on the vestibuloocular reflex seems to involve cholinergic transmission and the effect of the drug may be dose related.
Neurology 1981 Sep
PMID:Amitriptyline-induced ophthalmoplegia. 719 46

A 14-year-old boy with mitochondrial myopathy is described, and the findings on muscle biopsy shown. He presented with mild weakness, and severe exercise intolerance; examination showed ptosis, external ophthalmoplegia and severe muscle wasting. There was a possible family history of a similar disorder. Metabolic study demonstrated severe lactic acidosis on exercise. Oxygen consumption was measured and found abnormally high at rest and on exercise. Biochemical study of extracted muscle mitochondria showed decreased respiratory rates with NAD-linked substrates. These and other results suggest the site of the defect to be in the electron transport chain. The possible significance of abnormally high oxygen consumption in the presence of such a defect is discussed.
J Neurol Sci 1981 Sep
PMID:Childhood mitochondrial myopathy with ophthalmoplegia. 727 84

29 out of 39 patients bilaterally adrenalectomized for pituitary-dependent Cushing's syndrome between 1958 and 1979 have been followed up at regular intervals. ACTH-producing pituitary adenomas were detected and removed in 9 of them up to 1981. In 4 additional patients an enlarged sella turcica was already found at the time they had Cushing's syndrome, and therefore they were first treated by pituitary surgery or radiotherapy. In the adrenalectomized patients hyperpigmentation was the major clinical symptoms of the adenoma. Only in three instances did extrasellar growth of the adenoma cause ophthalmoplegia or narrowing of the visual fields. The existence of intrasellar ACTH-producing microadenomas in 5 additional patients seems highly probable in view of hyperpigmentation, excessively elevated plasma ACTH concentrations and radiological evidence of sella deformations. These observations indicate that in patients adrenalectomized for pituitary-dependent Cushing's syndrome ACTH-producing adenomas are more common than previously assumed. Moreover, according to recent reports, ACTH-producing microadenomas are frequently found in pituitary-dependent Cushing's syndrome and are assumed by many clinical endocrinologists to be the primary cause of this disease. Therefore, bilateral adrenalectomy is no longer the undisputed therapy of first choice and it is necessary in each individual case to consider carefully whether an attempt to remove selectively an ACTH-producing pituitary adenoma by microsurgery might not be preferable.
Schweiz Med Wochenschr 1981 Sep 12
PMID:[Incidence and clinical manifestation of ACTH-producing pituitary adenoma after bilateral adrenalectomy for Cushing's syndrome (Nelson syndrome)]. 729 59

The authors report a case of progressive ophthalmoplegia associated with asymptomatic primary biliary cirrhosis diagnosed by the finding of antimitochondrial antibodies and liver biopsy. Electron microscopic findings showed mitochondrial abnormalities, especially intramitochondrial paracrystalline inclusions, not only in skeletal muscle but also in hepatocytes. Enzymatic digestion revealed the acidic protein nature of the intramitochondrial paracrystalline inclusions of the hepatocyte. To the authors' best knowledge, the association of progressive ophthalmoplegia and primary biliary cirrhosis has not yet been reported in the literature. Despite the mitochondrial abnormalities in both skeletal muscle and liver and the presence of serum antimitochondrial antibodies, no apparent connection between these two diseases was found.
Hum Pathol 1980 Sep
PMID:Progressive ophthalmoplegia associated with asymptomatic primary biliary cirrhosis. Histologic, histochemical, cytochemical, and ultrastructural studies of muscle and liver biopsy specimens. 742 4

Bilateral common carotid ligation was performed successfully in a patient with bilateral giant intracavernous carotid artery aneurysms. The patient presented with complete left ophthalmoplegia and impending right ophthalmoplegia, which was treated with right carotid ligation followed one week later by subtotal left carotid occlusion. Subsequent to this treatment, the patient had a dramatic recovery and remains well one year following operation.
Surg Neurol 1980 Sep
PMID:Bilateral giant intracavernous carotid aneurysms treated by bilateral carotid ligation. 743 86

Mitochondrial myopathy, encephalopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is one of the mitochondrial encephalomyopathies that has distinct clinical features including stroke-like episodes with migraine-like headache, nausea, vomiting, encephalopathy and lactic acidosis. We report a 27-year-old woman who presented with partial seizure, stroke-like episodes including hemiparesis, hemianopia and hemihypethesia, sensorineural hearing loss, migraine-like headache, and lactic acidosis. Brain computed tomographic scan showed encephalomalacia in the right parieto-occipital area and recent hypodensity in the left temporoparieto-occipital area with cortical atrophy. Muscle biopsy revealed ragged-red fibers and paracrystaline inclusions in the mitochondria. Genetic study revealed an A to G point mutation at nucleotide position (np) 3243 of mitochondrial DNA. External ophthalmoplegia and ptosis were also found during two exaggerated episodes in this patient. Therefore, the overlapping syndrome of chronic progressive external ophthalmoplegia in the MELAS syndrome is considered in this case. Furthermore, we also found carnitine deficiency in this patient and she was responsive well to steroid therapy. Muscle biopsy also revealed excessive lipid droplets deposits. Therefore, the carnitine deficiency may occur in MELAS syndrome with the A to G point mutation at np 3243. We recommend the steroid or carnitine supplement therapy be applied to the MELAS syndrome with carnitine deficiency.
Acta Neurol Scand 1995 Sep
PMID:CPEO and carnitine deficiency overlapping in MELAS syndrome. 748 81

The evaluation of the severity of progressive external ophthalmoplegia (PEO) with ragged-red fibers in muscle, at the onset of the disease, when PEO is most often the only presenting symptom, is a difficult problem in neurological practice. In order to address that issue, we have performed a comparative analysis of the clinical, morphological and molecular characteristics of 43 patients affected with that form of ocular myopathy. Quantification of mitochondrial accumulation was performed with an image analysis application on muscle sections stained with succinate dehydrogenase histochemical reaction. The proportion of muscle fibres appearing as cytochrome c oxidase deficient was used as an index of the muscle-energy defect. Muscle mitochondrial DNA deletions were detected, localized and quantitated by Southern blot analysis. Point mutations were screened in five transfer RNA genes in the mtDNA (tRNA(Leucine (UUR)), tRNA(Lysine), tRNA(Glutamine), tRNA(Isoleucine) and tRNA(Formylmethionine)) by a denaturing gradient gel electrophoresis technique. This investigation confirmed the high frequency of mtDNA deletions or point mutations in PEO. At the onset of the disease, no clinical, morphological or molecular features could predict whether PEO would remain isolated or become part of a more severe multisystem disease. However, patients with mtDNA deletions were characterized by more severe ophthalmoplegia of earlier onset. Their muscle alterations were roughly parallel in severity to the proportion of deleted mtDNA molecules in muscle. Patients with a multitissular disease and mtDNA deletions were always sporadic cases and their clinical presentation was, most often, closely related to Kearns Sayre syndrome.
Neuromuscul Disord 1995 Sep
PMID:Chronic progressive external ophthalmoplegia with ragged-red fibers: clinical, morphological and genetic investigations in 43 patients. 749 74

Niemann-Pick disease type C (NPC) is a neurometabolic genetic disorder that is distinguished from Niemann-Pick disease by its later onset, more insidious progression, variable visceromegaly, and abnormalities of intracellular cholesterol metabolism. We describe a patient who presented with an 8-year history of psychosis requiring chronic neuroleptic therapy for a presumed diagnosis of schizophrenia. He was subsequently diagnosed with NPC as the emerging features of dementia, ataxia, dysarthria, and vertical supranuclear ophthalmoplegia were recognized. The characteristic features of adult-onset NPC and the obstacles to early diagnosis are reviewed.
Neurology 1995 Sep
PMID:Psychosis as the initial manifestation of adult-onset Niemann-Pick disease type C. 864 5

The author reports a case of mitochondrial myopathy which can be classified within the context of progressive chronic ophthalmoplegia and discusses the complex etiopathogenetic, histological and clinical aspects. In particular he underlines the severity of respiratory, muscular and bone symptoms and the important role played by histochemical and biochemical aspects in diagnosis.
Minerva Pediatr 1994 Sep
PMID:[Progressive chronic external ophthalmoplegia. Personal experience]. 779 82

A 72-year-old woman was admitted to our hospital with the complaint of recurrent ophthalmoplegia. During three months before her first consultation, she had experienced five episodes of ptosis and diplopia, which had lasted for about 1 month. No significant abnormality was shown with computed tomography (CT), magnetic resonance imaging (MRI) and MR-angiography on her brain. Cerebrospinal fluid was normal. Serum angiotensin converting enzyme (ACE) level was mildly elevated. The enlargement of hilar lymph nodes which showed non-caseating epitheloid granuloma suggestive of sarcoidosis was seen with chest X-ray and CT. A few days after the treatment of 60 mg of prednisolone every other day, ophthalmoplegia disappeared and no recurrence has been observed. Cranial nerve involvement tends to be seen commonly in neurosarcoidosis. By contrast, the nerves innervating the extraocular muscles are rarely involved. Although relapsing course of neurosarcoidosis is well known, no case with frequent recurrence of ophthalmoplegia during a few months has been reported.
Rinsho Shinkeigaku 1994 Sep
PMID:[A case of sarcoidosis with frequent recurrence of ophthalmoplegia]. 782 Sep 61


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