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)

Disorders characterized by both neurologic (ataxia, ophthalmoplegia, ptosis, neuromyopathy) and cardiologic (heart block, cardiomyopathy) abnormalities have been previously called the "ophthalmoplegia plus" syndromes. Most are not due to a specific enzyme defect or metabolic abnormality and thus may be similar phenotypic expressions of diverse causes. We studied seven patients with progressive external ophthalmoplegia and variable ataxia, with mitral valve prolapse and mitral regurgitation that progressed in severity as did the neuromuscular manifestations. Abnormal skeletal muscle biopsies showed "ragged-red" fibers or congenital fiber type disproportion; serum alanine levels were elevated; in-vivo and in-vitro tests of pyruvate metabolism gave abnormal results; C4 complement was decreased; and the patients' fibroblasts bound immunoglobulin when incubated with autologous serum. These data suggest a distinct neuromuscular disorder with metabolic and immunologic features associated with mitral valve prolapse and progressive mitral regurgitation.
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PMID:Mitral valve prolapse and ophthalmoplegia: a progressive, cardioneurologic syndrome. 634 61

External ophthalmoplegia, retinal pigmentary degeneration, and heart block constitute the Kearns-Sayre syndrome. Skeletal muscle weakness, deafness, ataxia and endocrine disturbances also may occur. We examined 15 members in two generations of a family with autosomal dominant Kearns-Sayre syndrome. Seven had external ophthalmoplegia, six had electrocardiographic abnormalities, six had limb weakness nad six patients were normal. A deltoid muscle biopsy specimen from one patient contained typical "ragged-red fibers," abnormal lipid accumulation, and mitochondria increased in size and number, containing inclusions. The study demonstrated: (1) the marked variability in genetic expression; (2) the need to examine family members to discover asymptomatic patients and to establish an otherwise unrecognized hereditary pattern; and (3) the absence of specific and consistent biochemical abnormalities.
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PMID:Autosomal dominant Kearns-Sayre syndrome. 738 48

Kearns-Sayre syndrome is the triad of progressive external ophthalmoplegia, pigmentary retinopathy, and complete AV block. The etiology is unknown, but is thought to be due to a mitochondrial DNA deletion. Reported electrocardiographic abnormalities include first-degree AV block, fascicular blocks, and complete heart block, as well as non-specific S-T segment changes and T wave abnormalities, but has not included sinus node dysfunction. We report a case with episodes of sinus arrest in an asymptomatic patient with Kearns-Sayre syndrome resulting in pauses lasting up to 6 seconds.
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PMID:Sinus dysrhythmia in Kearns-Sayre syndrome. 751 37

Kearns-Sayre syndrome (KSS) is a form of mitochondrial myopathy in which specific clinical features, namely progressive external ophthalmoplegia, pigmentary retinal degeneration and onset before age 20 occur. It can also be associated with cardiac conduction defects, neurological and variety of endocrine and metabolic disorders. Recognition of mtDNA deletion as the genetic basis of KSS has confirmed the validity of clinical criteria. The purpose of the report is to describe a 30-year-old woman presenting typical clinical features of KSS. On muscle biopsy ragged red fibres and mitochondrial abnormalities on electron microscopy were seen. In spite of menstrual disturbances she became pregnant and delivered health child. In 30 week of pregnancy the VVI pacemaker was implanted because of syncope most probably related to paroxysmal complete heart block.
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PMID:[Complete heart block treated with electrotherapy in a 30-year-old pregnant women with Kearns-Sayre syndrome]. 859 65

We report a 56-year old female with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), presenting with protein-losing gastroenteropathy and serum copper deficiency. There was no neuromuscular disease in her family members. Three years prior to admission, she developed severe gastrointestinal symptoms including diarrhea, nausea, vomiting and ascites, and was diagnosed as having protein-losing gastroenteropathy based on alpha(1)-antitrypsin clearance and other tests. She was referred to our department when neurological symptoms were apparent. Neurological examinations revealed bilateral ptosis, ophthalmoplegia, hearing loss, facial and limb muscle weakness, mild sensory deficit of vibration on her feet and hypoactive deep tendon reflexes. Pigmentary retinopathy, cerebellar ataxia and heart block were not seen. Serum copper level was decreased to 45 micrograms/dl (normal: 83-155). Chronic intestinal pseudo-obstruction was proven by X-ray studies, and diffuse leukoencephalopathy demonstrated on brain MRI. On EMG, motor nerve conduction velocities were prolonged with temporal dispersion. Her muscle biopsy from biceps brachii muscle showed both neuropathic and myopathic changes, scattered ragged-red fibers and focal cytochrome c oxidase deficiency. Southern blot and polymerase chain reaction analysis on mitochondrial DNA showed no deletions nor point mutations. The clinical and pathologic findings of the present patient fulfilled the diagnostic criteria of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) proposed by Hirano et al. There are few reported patients with MNGIE in Japan, but none presented with protein-losing gastroenteropathy and serum copper deficiency. Since the copper is a cofactor of cytochrome c oxidase, decreased serum copper level may aggravate the respiratory chain enzyme metabolism in mitochondria. Therefore, treatment for gastrointestinal tract disturbance and copper administration may be necessary to prevent disease progression.
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PMID:[Mitochondrial neurogastrointestinal encephalomyopathy presenting with protein-losing gastroenteropathy and serum copper deficiency: a case report]. 949 Sep 4

Kearns-Sayre syndrome (KSS) is a mitochondrial disorder. There is a large-scale mitochondrial DNA (mtDNA) deletion in most of the case. In this article, a case of KSS who has progressive external ophthalmoplegia (PEO), retinitis pigmentosa (RP), complete heart block, encephalopathy attacks, type-1 diabetes mellitus, ragged-red fiber (RRF) and lactic acidosis is presented and discussed in light of the literature available on this subjects. Diagnosis is confirmed by determination of mtDNA deletion.
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PMID:Kearns-Sayre syndrome. A case report. 967 32

A 33-year-old Japanese man had Kearns-Sayre syndrome (KSS), which consists of the triad of external ophthalmoplegia, heart block, and "salt-and-pepper" retinopathy. The other systemic manifestations included sensorineural hearing loss, slight generalized muscle weakness, cerebellar ataxia, and elevated levels of cerebrospinal fluid protein. He exhibited a heteroplasmic mitochondrial DNA deletion of approximately 9 kb between the cytochrome c oxidase subunit 1 and cytochrome b genes. In the authors' experience, this deletion is one of the longest to be observed in such patients. His fundi were characterized bilaterally by white flecks in the inner layers of retina at the midperiphery. Visual evoked potentials showed delayed latency in the P100 component. The tibial somatosensory evoked potential revealed a marked prolongation of interpeak latency between the N20 and P40 components. Brain magnetic resonance images revealed high-intensity foci in several regions on T2-weighted images. Electrophysiological and magnetic resonance imaging findings suggested an involvement of the white matter of the central nervous system in this patient that was not reflected in the clinical findings.
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PMID:Patient with Kearns-Sayre syndrome exhibiting abnormal magnetic resonance image of the brain. 985 14

The cardinal eye manifestations of mtDNA diseases are ophthalmoplegia, optic neuropathy, and pigmentary retinopathy. A number of other eye structures may also be affected in these disorders and the ophthalmologist is in a unique position to detect and interpret these findings. The presence of these ophthalmologic manifestations may be the first clue that the patient has an underlying mitochondrial disease with the eye as the initial or most prominently affected organ. The phenotypic manifestations of mitochondrial disease are protean and variable, and there are no clear-cut, minimal features that define these disorders. The possibility of a mitochondrial disorder should be raised when any of the mitochondrial eye manifestations (Table 1) are present, either alone or in concert with the neurological and systemic (Table 2) manifestations of mitochondrial disease. A maternal family history of an ophthalmologic, neurological, or systemic illness is also compatible with a mitochondrial disorder. The ophthalmologist should not loose sight of the fact that mitochondrial disorders have systemic manifestations and implications, even when the primary manifestations are ocular. Detection of and proactive intervention into comorbid features (eg, diabetes mellitus, hearing loss, heart block) is an important component.
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PMID:The ophthalmologic manifestations of mitochondrial disease. 1016 Feb 16

A patient with 2-oxoadipic aciduria and 2-aminoadipic aciduria presented at 2 years of age with manifestations typical of organic acidemia, episodes of ketosis and acidosis, progressive to coma. This resolved and the key metabolites disappeared from the urine and blood. At 9 years of age she developed typical Kearns-Sayre syndrome with complete heart block, retinopathy, and ophthalmoplegia. Southern blot revealed a deletion in the mitochondrial genome.
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PMID:Kearns-Sayre syndrome presenting as 2-oxoadipic aciduria. 1065 59

Kearns-Sayre syndrome is a mitochondrial cytopathy characterized by chronic progressive external ophthalmoplegia, retinitis pigmentosa and heart block, the last of which determines the survival of these patients. The case of a 23 year old man with Kearns-Sayre syndrome, conduction disturbances and mitral valve prolapse is presented. The characteristics of this syndrome are described and the criteria for prophylactic installation of a pacemaker discussed.
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PMID:Kearns-Sayre syndromes an absolute indication for prophylactic implantation of definitive pacemaker? 1074 53


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