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)

Thirty eight consecutive cases of intracranial arterial aneurysms collected during the last decade in the same department of neurology are reported, the aneurysms being revealed by a non hemorrhhagic semeiology, i.e. without clinical meningeal syndrome. In 31 cases, the aneurysm seemed to be related to the clinical manifestation: in 14 cases, it was an acute headache, characterized by its suddenness, immediate maximum intensity, spontaneous and fastly regressive course. It occurred without any symptoms (6 cases) or associated with an epileptic seizure (1 case), or an ophthalmoplegia (7 cases). The course was often relapsing. In 8 cases, it was a cerebrovascular accident of ischemic type; in 6 cases, a pseudo-tumoral syndrome; in 2 cases, an epilepsy; in 1 case, a migraine. For the further 7 cases, the aneurysm was diagnosed fortuitously when investigating a non related disease. The present series shows: the high incidence of the non hemorrhagic forms of aneurysms since they account for 40 p. 100 of the aneurysms cases detected during the same period in our neurological department. The various clinical manifestations are already well-known, mainly the acute headache and the pseudo-tumoral forms. The aneurysm-related cerebrovascular accidents seem to be relatively frequent; 2 cases of the present series give the opportunity for a discussion about the relations between a spontaneous thrombosis and a definitive anatomical cure of the aneurysm. Finally, other cases lead to suspect aneurysms as a possible cause of epilepsy or of migraine. The prognosis of these non hemorragic forms of aneurysms is much better than that of ruptured aneurysms. The direct intracranial surgical cure of the lesion gives on the whole excellent results. Such a treatment must be advocated whenever possible for any unruptured symptomatic aneurysm, as the risk of their rupture or clinical relapse is far from being negligible. The strategy is more difficult to define for asymptomatic unruptured aneurysms as the actual risk of subsequent rupture or other clinical manifestations is not sufficiently known.
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PMID:[Non-hemorrhagic forms of intracranial arterial aneurysms]. 725 63

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.
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PMID:CPEO and carnitine deficiency overlapping in MELAS syndrome. 748 81

We clinically characterized 18 diabetic patients in 7 families with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) and mitochondrial DNA mutations of tRNALEU(UUR) (3243), 5 diabetics in a family with myoclonic epilepsy and ragged red fiber (MERRF) and tRNALYS (8344) mutation and 11 diabetics in a family with chronic external ophthalmoplegia (CPEO) and multiple deletions. Insulin secretory capacities were significantly reduced in the mutant relatives, as compared with the non-mutant members. It is speculated that the mutation-induced OPHOS defects in the pancreatic beta- cells might result in insulin secretory defects.
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PMID:[Clinical characterization of diabetes mellitus in the families with mitochondrial encephalomyopathies]. 752 90

Large-scale mitochondrial DNA deletion was found in a 5-year-old girl with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) and Fanconi's syndrome. Muscle biopsy disclosed ragged-red fibers and cytochrome c oxidase negative fibers. Respiratory chain studies were normal. Southern blot analysis demonstrated a 10.5-Kb heteroplasmic deletion in both muscle and blood. Deleted genomes represented 40% of total mitochondrial DNA in muscle and 63% in blood. There was no evidence of point mutations characteristic of MELAS. We suggest that not only patients with progressive external ophthalmoplegia syndromes, but also those with defined syndromes [e.g., MELAS or myoclonic epilepsy and ragged-red fibers (MERRF)] without characteristic point mutations, be screened for mitochondrial DNA deletions.
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PMID:Mitochondrial DNA deletion in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes (MELAS) and Fanconi's syndrome. 757 54

The mitochondrial tRNALeu(UUR) A-->G(3243) mutation was identified in 22 unrelated patients. The probands and their relatives were assessed clinically and by quantitative mitochondrial DNA (mtDNA) analysis. While 10 probands had clinical features consistent with the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), usually associated with this mutation, 12 probands had other phenotypes including other encephalopathies, chronic progressive external ophthalmoplegia (CPEO), myoclonic epilepsy and ragged red fibres (MERRF), myopathy alone and diabetes and deafness. Histochemical analyses of muscle biopsies showed a higher proportion of cytochrome oxidase (COX) negative fibres, but fewer strongly COX reactive fibres, in patients with CPEO compared with those with MELAS. The proportion of mutant mtDNA present in blood was significantly greater in symptomatic than asymptomatic subjects, and was correlated with age in both. This correlation was not observed in patients with the tRNALys A-->G(8344) mutation. The proportion of mutant mtDNA A-->G(3243) in muscle was always greater than that in blood. Significant correlations between proportion of mutant mtDNA in blood and both age of onset of disease and a clinical severity score were observed. However, the proportion of mutant mtDNA in blood in affected and unaffected cases overlapped, preventing use of the genetic-clinical correlation for prognostic or predictive purposes. The presence of intrafamilial clustering of phenotypes and the imperfect relationship between proportion of mutant mtDNA and the presence or absence of disease suggests that other factors may determine the phenotype. To investigate this possibility further, the tRNALeu(UUR) gene was sequenced in 23 probands and six relatives. In 28 patients the sequence was normal apart from the 3243 mutation, but in members of one family there was a homoplasmic T-->C transition at position 3290 which was not found in 140 controls or 50 other patients with mitochondrial myopathy. The family with this transition had high levels of mutant mtDNA A-->G(3243), with a unique phenotype of predominant skeletal myopathy, suggesting that this second base change in tRNALeu(UUR) may influence the clinical phenotype.
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PMID:The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study. 760 89

A prospective study was conducted to evaluate the usefulness and limitations of conservative treatment in patients with pituitary apoplexy. Twelve patients presenting sudden headache, visual impairment, or ophthalmoplegia had the diagnosis of pituitary apoplexy established by computerized tomographic scans. Initially, 11 patients received iv dexamethasone (2.0-16.0 mg/day). Surgery was indicated when dexamethasone failed to improve visual or consciousness impairment. Among the 7 patients who were treated conservatively, ophthalmoplegia recovered completely in 6 and improved in 1. Follow-up computerized tomographic scans showed resolution of the tumor in 4 patients and residual masses in 3 patients who were treated conservatively. Five patients had surgery and experienced improvement of vision and consciousness. Follow-up computerized tomographic scans showed residual masses in all surgical patients. Recurrences were observed in 2 patients, one in each group. The prevalence of pituitary deficiencies in the conservative group (9 of 17) was similar to that of the surgical group (3 of 14), but when only patients whose tumors were resolved by the apoplexy were analyzed, a significantly higher prevalence (8 of 12) was observed (P = 0.02). A retrospective analysis of presenting clinical and computerized tomography data on the basis of the response to dexamethasone showed that visual impairment did not improve during treatment with dexamethasone, whereas the presence of a large hypodense area within the tumor predicted complete tumor resolution. These results support conservative management of pituitary apoplexy in patients who are selected on the basis of clinical and tomographic findings.
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PMID:Conservative management of pituitary apoplexy: a prospective study. 760 78

A comparative histochemical analysis of the prevalence and cytochrome oxidase staining characteristics of ragged-red fibres in limb skeletal muscles was performed in 19 patients spanning four distinct mitochondrial syndromes: chronic progressive external ophthalmoplegia; myoclonus epilepsy with ragged-red fibres; mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; and pure limb myopathy. The percentage occurrence of non-ragged red but cytochrome oxidase negative fibres was additionally noted. Ragged-red fibres and cytochrome oxidase-negative fibres were generally more prevalent in the chronic progressive external ophthalmoplegia syndrome than in myoclonus epilepsy ragged-red fibres syndrome or mitochondrial myopathy encephalopathy lactic acidosis and stroke-like episodes syndrome. Isolated cytochrome oxidase-negative fibres were a common finding in each phenotypic syndrome except pure limb myopathy and could involve any of the major fibre types non-specifically. Ragged-red fibres were devoid of cytochrome oxidase activity in chronic progressive external ophthalmoplegia, but commonly displayed activity in the other three syndromes providing a clue to syndromal differentiation on a histochemical basis.
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PMID:Contrasting histochemical features of various mitochondrial syndromes. 762 56

We performed N-isopropyl-[123I]p-iodoamphetamine (IMP) single photon emission computed tomography (SPECT) in three patients with Leigh syndrome, two patients with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), and two siblings with progressive external ophthalmoplegia (PEO). The SPECT images were compared with the findings on magnetic resonance imaging (MRI) and computed tomography (CT). All Leigh syndrome patients showed low accumulation areas (LAA) bilaterally in the frontal lobes and the basal ganglia. The frontal lobe LAA was seen even in an area without abnormalities on CT/MRI. Each MELAS patient showed a focal LAA. SPECT could also detect an old stroke-like lesion that was no longer shown by CT/MRI. However, SPECT did not show LAA in the basal ganglia, which showed calcification on CT or abnormal signal intensity on MRI. MRI in the 2 PEO patients showed lesions bilaterally in the basal ganglia in one, and in the internal capsules in the other. SPECT showed LAA not only in corresponding areas, but also in the occipital lobes, where no lesions were revealed by MRI. Thus, 123I-IMP SPECT was more sensitive than CT/MRI for detecting stroke-like lesions in MELAS patients, although it did not detect small lesions in the basal ganglia. LAA in the frontal lobes and occipital lobes may be SPECT findings characteristic of Leigh syndrome and PEO, respectively.
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PMID:123I-IMP SPECT findings in mitochondrial encephalomyopathies. 2720 85

Pituitary apoplexy is a rare but sometimes dramatic complication of pituitary tumors. We report the case of a 64-year-old man with a macroadenoma who complained of a sudden and intense headache after a dynamic TRH (200 micrograms) and GnRH (100 micrograms) test. Two days later, he presented an acute ophthalmoplegia with fever and deteriorating consciousness. Emergency CT scan showed contrast hypofixation compatible with necrosis of the adenoma. Surgical, tumoral decompression resolved quickly almost all symptoms. Immunohistochemical study of the tumor confirmed the diagnosis of gonadotropinoma. Several similar cases of pituitary apoplexy occurring after TRH or GnRH tests have been described the last ten years. As this test may sometimes confirm the diagnosis of gonadotropinoma, it should be performed with caution in cases of clinically non functioning pituitary macroadenoma.
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PMID:[Pituitary apoplexy of a gonadotrophinoma and TRH/GnRH tests. Literature review]. 763 32

We studied 22 subjects carrying the A3243G point mutation of human mitochondrial DNA (mtDNA). In 14 cases the clinical phenotype was characterized by mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), while 8 patients had chronic progressive external ophthalmoplegia (CPEO). The proportion of A3243G heteroplasmy in muscle was determined by two methods; densitometry on a diagnostic restriction-fragment length polymorphism and solid-phase mini-sequencing. We found a highly significant inverse correlation between the percentage of A3243G mutation and the specific activity of complex I, the respiratory complex with the highest number of mtDNA-encoded subunits, suggesting a direct effect of the mutation on mtDNA translation. No correlation was observed between the percentage of mutated mtDNA and the presence or absence of specific clinical features, such as stroke, ophthalmoplegia and diabetes mellitus. However, in the MELAS group the percentage of mutated mtDNA molecules was strongly correlated with the age of onset, while no such correlation was found in the CPEO group, suggesting a different time-dependent evolution of the mutation in the two groups. Finally, in contrast with other mtDNA mutations associated with ragged-red fibres (RRF), in both MELAS3243 and CPEO3243 we observed a high proportion of RRF that were positive to the histochemical reaction to cytochrome c oxidase, a morphological feature that seems to be specific for the neuromuscular phenotypes associated with mutations affecting the tRNA(Leu(UUR)) gene.
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PMID:Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA. 764 39


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