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)

Nocturnal polygraphic recordings (electroencephalography, electro-oculography, submental and intercostal muscle electromyography, electrocardiography, respiration by thoracic strain gauges and oronasal thermistors) with continuous monitoring of arterial oxyhemoglobin saturation by pulse oximeter were performed in 8 patients with ophthalmoplegia plus. All patients except 1 had normal blood gas values and normal lung volumes associated with a diminished ventilatory response to inhaled CO2 during wakefulness. Four patients showed pathological sleep-related breathing patterns consisting of sleep apneic polygraphic tracings mainly of the central type or of REM-related hypoventilation episodes. It is suggested that these disorders in patients with ophthalmoplegia plus may have a central origin and be related to the underlying metabolic disturbance.
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PMID:Respiratory patterns during sleep in mitochondrial myopathies with ophthalmoplegia. 201 30

We studied the pulmonary function and ventilatory response to carbon dioxide and hypoxia in three sisters aged 16, 13, and 10 years who presented with droopy eyelids, external ophthalmoplegia, hearing loss, speech difficulty, and truncal muscular weakness. Pulmonary function test results showed decreased maximum static pressure, reduced vital capacity and total lung capacity, normal functional residual capacity, elevated residual volume, and reduced dynamic pulmonary volumes. The degree of functional abnormality paralleled the severity of clinical manifestations. The characteristic picture of pulmonary functional abnormality was distinct from either restrictive disorders of pulmonary origin or obstructive pulmonary diseases. The ventilatory response to hypoxia was markedly diminished and hypercapnic response was moderately diminished in all three patients.
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PMID:Pulmonary function and ventilatory response to chemical stimuli in familial myopathy. 393 Jan 59

The presentation and treatment of a central hypoventilation syndrome in a boy with pyruvate dehydrogenase complex (PDHC) deficiency are reported. Dephosphorylated PDHC was assayed in disrupted fibroblasts after pretreatment with dichloroacetate, a pyruvate dehydrogenase kinase inhibitor. Maximal specific activity of activated patient PDHC was 10% to 30% of control values. Patient PDHC activity was not increased by alterations in concentrations of pyruvate or cofactors (thiamine pyrophosphate [TPP], coenzyme A [CoA], oxidized form of nicotinamide adenine dinucleotide [NAD+]). Clinically, normalization of plasma lactate by a high-lipid diet did not prevent slowly progressive neurologic decline. The patient manifested intermittent ataxia, episodic profound weakness, moderate psychomotor retardation, ophthalmoplegia, and retinal pigment epithelial changes. A true central hypoventilation syndrome was documented on the basis of rigorous radiologic, electrophysiologic, and pulmonary function criteria. Theophylline, progesterone, and ritalin neither altered ventilatory response to CO2 nor permitted weaning from the ventilator. In contrast, peripheral chemoreceptor stimulants (intravenous doxapram; oral almitrine) effected an acute doubling of minute ventilation with appropriate decreases in PaCO2. However, a positive response to long-term therapy with almitrine could not be unequivocally shown. It was concluded that measurement of disrupted fibroblast PDHC following dichloroacetate activation constitutes an accurate assay for PDHC deficiency. PDHC deficiency must be considered in the differential diagnosis of the central hypoventilation syndrome; this appears to be the first report of such an association. Finally, a therapeutic trial of a peripheral chemoreceptor agonist is warranted in the management of central hypoventilation syndrome.
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PMID:Central hypoventilation syndrome in pyruvate dehydrogenase complex deficiency. 643 1

Subacute necrotizing encephalomyelopathy (Leigh's syndrome) is a rare neurodegenerative disease in the adult. The precise metabolic defect is unknown, but abnormalities of a mitochondrial enzyme system related to cytochrome-c oxidase or pyruvate dehydrogenase are described. The clinical picture usually consists of an altered breathing pattern, oculomotor paralysis, other signs of cranial nerve dysfunction, ataxia, myoclonic jerks, nystagmus, generalized seizures, optic atrophy and demyelinating peripheral neuropathy. Hypopnea leads to CO2-retention with consecutive loss of consciousness demanding mechanical ventilation. Respiratory failure is the most frequent cause of death. Here we describe two patients with adult onset Leigh's syndrome and we discuss the longterm treatment strategies including vitamin B1 and CPAP mask.
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PMID:[Adult Leigh syndrome. A rare differential diagnosis of central respiratory insufficiency]. 771 56

The aim of this study is to describe vision loss caused by central retinal artery and posterior ciliary artery occlusion as a consequence of sclerotherapy with a polidocanol injection to a glabellar hemangioma. An 18-year-old man underwent direct injection with a 23-gauge needle of 1 mL of a polidocanol-carbon dioxide emulsion into the glabellar subcutaneous hemangioma under ultrasound visualization of the needle tip by radiologists. He developed lid swelling the next day, and 3 days later at referral, the visual acuity in the left eye was no light perception. Funduscopy revealed central retinal artery occlusion and fluorescein angiography disclosed no perfusion at all in the left fundus, indicating concurrent posterior ciliary artery occlusion. The patient also showed mydriasis, blepharoptosis, and total external ophthalmoplegia on the left side. Magnetic resonance imaging demonstrated the swollen medial rectus muscle. In a month, blepharoptosis and ophthalmoplegia resolved but the visual acuity remained no light perception. Sclerosing therapy for facial hemangioma may develop a severe complication such as permanent visual loss.
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PMID:Central retinal and posterior ciliary artery occlusion after intralesional injection of sclerosant to glabellar subcutaneous hemangioma. 1856 60

Exercise intolerance is a common finding in mitochondrial diseases, including Kearns-Sayre syndrome (KSS), characterised by progressive external ophthalmoplegia, cardiac conduction defects and atypical pigmentary degeneration of the retina. Exercise studies were performed in a 32 year old woman with KSS who had received an atrio-ventricular sequential pacemaker because of continuing breathlessness, having presented with complete heart block requiring a fixed rate demand pacemaker 6 years earlier. Minute ventilation, oxygen consumption, and carbon dioxide production were measured at different workloads on 3 consecutive days by collecting expired air. Compared to controls, after exercise at a subanaerobic workload, heart rate and ventilation were exaggerated relative to both oxygen consumption and carbon dioxide production. The findings are consistent with the hypothesis that, in mitochondrial disorders, impaired oxidative phosphorylation leads to uncoupling of cardiac ouput and ventilation relative to muscle metabolic rate.
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PMID:Exercise intolerance in Kearns-Sayre syndrome. 1863 8

Carbon monoxide poisoning, which occurs in poorly ventilated areas, is associated with different symptoms and signs. This report describes an 8-year-old girl with severe carbon monoxide intoxication, scattered retinal nerve fiber layer and subhyaloid hemorrhages, and exotropia with bilateral internuclear ophthalmoplegia.
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PMID:Carbon Monoxide Poisoning: A Patient with Bilateral Internuclear Ophthalmoplegia and Exotropia. 1964 81

Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is characterized by leukoencephalopathy, peripheral neuropathy, ptosis, ophthalmoplegia, and gastrointestinal dysmotility. Mitochondrial myopathies are rare diseases and little is known of how to manage them when the patient requires anesthesia. We describe the anesthetic procedure used during emergency surgery for megacolon in a 26-year-old woman with MNGIE. Variables monitored were electrocardiogram, invasive arterial pressure, oxygen saturation by pulse oximetry, end-tidal carbon dioxide pressure, neuromuscular block, and depth of anesthesia (entropy). Rapid sequence induction was accomplished with midazolam, fentanyl, propofol, and rocuronium as an alternative to succinylcholine. Anesthesia was maintained with intravenous propofol; a second dose of the neuromuscular blocker was not required. No intraoperative problems developed and extubation was possible 2 hours after arrival in the postoperative critical care unit, once we had checked the level of block to confirm that reversion was not required.
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PMID:[Emergency anesthesia in a woman with mitochondrial neurogastrointestinal encephalopathy]. 2227 79