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)

Three cases of Kearns syndrome are reported. The neuro-ophthalmological signs were comparable with ophthalmoplegia, pigmentary retinal degeneration and polymorphic neuro-muscular and sensory deficits. The electrocardiological signs were observed 2-4 years after the onset of the condition; the cause of death in each case was related to complete heart block. The post-mortem findings in one of the cases were spongial degeneration of the central nervous system and a seemingly primitive degeneration of the Bundle of His and its branches.
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PMID:[Cardiological aspect of Kearns' syndrome. Apropos of 3 cases, with histopathological study of the conduction tissue in one of them]. 11 5

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

A man with bronchogenic carcinoma lost the ability to elevate his left eye voluntarily. His eyes were level in the primary position and the Bell phenomenon was normal, indicating that the ophthalmoplegia was caused by a supranuclear lesion. Other clinical and radiologic evedence indicated that there was a lesion in the rostral midbrain. A metastatic tumor, found in the right pretectum at autopsy, probably produced the ophthalmoplegia by interrupting axons destined for the superior rectus portion of the homolateral oculomotor nucleus and the interior oblique portion of the contralateral oculomotor nucleus.
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PMID:Supranuclear paralysis of monocular elevation. 123 56

We reported a case of Kearns-Sayre syndrome with impaired respiratory regulation. A 55-year-old male was admitted to our hospital complaining of chronic progressive external ophthalmoplegia, limb muscle weakness and dyspnea. On admission, because arterial blood gas analysis showed marked alveolar hypoventilation, ventilatory response was measured and diminished chemosensitivity to both hypoxia and hypercapnia was found. His vital capacity and forced expiratory volume in 1 second were slightly decreased, and a chest X-ray film revealed a moderate degree of elevation of the bilateral diaphragm. Therefore, we considered that the diminished response to hypoxia and hypercapnia in this case was caused by an impairment of the respiratory center, as well as chemoreceptors and also the presence of respiratory muscular weakness.
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PMID:[A case of Kearns-Sayre syndrome with impaired respiratory regulation]. 175 13

A case of Burkitt's type ALL with numb chin syndrome as the initial manifestation is described. A 57-year-old Japanese male was admitted to our hospital in November 14, 1989 because of paresthesia at the chin and lower lip with diplopia and ptosis. Neurological examination revealed oculomotor paralysis of the right side and hypesthesia on the chin, lower lip and buccal mucous membrane. Laboratory findings showed increased leukocyte count. Bone marrow aspirate revealed hypercellular marrow with 92.3% leukemic cells which had vacuoles in the cytoplasm and surface marker of IgM, kappa type. The abnormalities of karyotype included t(8;14). He was treated with chemotherapy and radiation. His conditions were temporarily improved, but relapsed later and died in March 6, 1990. Leukemic infiltrations to the trigeminal nerve were found in autopsy. The relationship between lymphoid malignancies and numb chin syndrome was discussed.
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PMID:[Burkitt's type ALL with numb chin syndrome as an initial manifestation]. 202 41

The propositus (case 1) was a 40 year-old man. He had begun to note unsteady walking at age 26. He was found to have cerebellar ataxia and pyramidal signs in addition to minor features such as progressive external ophthalmoplegia, gaze nystagmus, bulging eyes, intention fasciculation-like movements of facial and lingual muscles, and limb dystonia. These findings were categorized into type II form of the disease. One sister (case 3) aged 37 years, and one brother (case 4) aged 44 years of the propositus had also type II form of the disease. His uncle (case 2) had the same cerebellar and extrapyramidal signs accompanied with peripheral nerve signs such as muscle wasting, weakness, hypo-tonus and decreased deep tendon reflexes, and a diagnosis of type III form of the disease was made. In the T2-weighted magnetic resonance imaging (1.5 T, TR 2000 or 3000 msec, TE 120 msec) of the three patients (case 1, 3 and 4), dorsolateral part of the putamen showed decreased signal intensity. Although hypo-intensity of the putamen is often observed in normal elderly people over 50 years old, it is considered to be abnormal when it exists in relatively young people as in this family members.
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PMID:[A new family of Machado-Joseph disease--an abnormal decrease in signal intensity of the putamen in magnetic resonance imaging]. 224 34

Mitochondrial myopathies can affect the skeletal muscle, the central or peripheral nervous system, and they may be associated with chronic progressive external ophthalmoplegia (CPEO). In 7/29 patients with mitochondrial myopathies and CPEO a cardiac involvement (Kearns-Sayre syndrome) was found: incomplete right bundle branch block (n = 1), right bundle branch block (n = 1), left anterior fascicular block and right bundle branch block (n = 2), complete atrioventricular block (n = 3); congestive cardiac failure (ejection fraction 40%) (n = 2); 3/10 patients had prolonged infranodal conduction on His-bundle electrography (HV-interval 60 ms). The cardiac involvement in ophthalmoplegia plus is characterized by progressive impairment of fascicular conduction. The need for prophylactic pacemaker implantation appears to exist in patients with bifascicular block and prolonged His-ventricle conduction.
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PMID:[Indications for pacemaker therapy in ophthalmoplegia plus and Kearns-Sayre syndrome]. 231 77

A 56 year-old man presented with vertigo and the right sided weakness. Neurological examination revealed a lethargic man with good orientation to three spheres. His neck was supple. He had anisocoria, the right pupil being larger than the left by 1.5 mm with sluggish light reaction bilaterally. He had exotropia of the right eye in primary gaze. The abduction of both eyes were full with terminal horizontal nystagmus. The adduction of both eyes were quite limited in each eye. He had a limited upward gaze with poor convergence. These were interpreted as the syndrome of the medial longitudinal fasciculus (MLF) bilaterally. He had a depressed gag reflex on the right side with tongue deviation to the right. He had a mild weakness of the right side limb and also had the right sided hemihyperesthesia including his face to pain and temperature. Twenty four hours after the onset, the left brachial angiography revealed a complete occlusion of the rostral portion of the basilar artery without visualization of the posterior cerebral and superior cerebellar arteries bilaterally. CT scans three days after the onset revealed a low density area in the mid pons with extension rostrally up to the mesencephalon. Four days later he became quadriplegic with bilateral horizontal gaze palsy. No more internuclear ophthalmoplegia is noted on both sides. The midline location of the MLF in the pons, and the separate blood supplies by different paramedian branches of the basilar artery, form the anatomical explanation for the frequent unilaterality of vascular and bilaterality of demyelinating lesions. Bilateral MLF syndrome has been considered almost pathognomonic of multiple sclerosis.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Bilateral internuclear ophthalmoplegia in association with basilar artery occlusive disease]. 235 Sep 28

The Kearns-Sayre syndrome is identified by the triad of progressive external ophthalmoplegia, atypical pigmentary retinopathy, and conduction disturbances. In addition, clinical manifestations may include mental retardation, sensorineural deafness, cerebellar ataxia, and facial and peripheral muscle weakness. Morphologic alterations in skeletal muscle may be characterized by ragged-red fibers. Two patients with Kearns-Sayre syndrome underwent electrophysiological examination. The first patient had a first and second degree AV block (Mobitz type II), right bundle branch block, and left axis deviation. The His-bundle electrogram showed a prolonged HV interval as a hint at an intraventricular conduction delay. The signal-averaging technique and endocardial mapping revealed ventricular after-depolarizations. The second patient had an unsuspicious ECG, recurrent atrial tachycardias, normal atrial and ventricular conduction, and after-depolarizations in endocardial mapping. Two months later he showed a second degree AV block combined with clinical symptoms. Pacemakers were implanted in both patients. Beside disturbances of the conduction system in both patients signs of electrical instability of the myocardium were found. In this way the Kearns-Sayre syndrome may be seen as a form of cardiomyopathy.
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PMID:[Electrophysiologic findings in patients with Kearns-Sayre syndrome--report on 2 cases]. 240 85

The Kearns-Sayre syndrome is a rare condition, characterized by progressive external ophthalmoplegia, retinal pigmentary degeneration and progressive impairment of cardiac conduction, which mainly determines the prognosis. Two young patients (aged 13 and 18 years) without symptoms of cardiac disease presented with an electrocardiogram showing sinus rhythm, a normal atrio-ventricular conduction time, right bundle branch block and a left anterior fascicular block. Electrophysiologic investigation showed prolongation of His-ventricular interval at rest, which further increased during atrial pacing. Because of the potential progression of the conduction abnormalities and threatening sudden death, we decided to implant a pacemaker in both patients. Ten months later one patient had become pacemaker-dependent. Prophylactic pacemaker therapy is advisable in patients suffering from the Kearns-Sayre syndrome, who have bifascicular block on the precordial electrocardiogram.
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PMID:Indications for pacemaker implantation in the Kearns-Sayre syndrome. 270 75


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