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)

A case of nemaline myopathy with ophthalmoplegia is reported. The patient was a 35-year-old man born of consanguineous parents. He had a myopathic face, high-arched palate, nasal voice, scoliosis, very thin trunk and marked muscle weakness involving face, neck, limbs and trunk. He also had ptotis of the left eyelid and mild bilateral ophthalmoplegia, also detected by electrooculogram. Biopsy of gastrocnemius muscle revealed nemaline rods. At the ultrastructural level, the rods appeared to have axial and cross striations, and in cross-sections at high magnification they seemed to have a crystal lattice structure. Intranuclear rods were also observed. In addition to the rods, abnormal mitochondria including a number of paracrystalline inclusions were seen.
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PMID:A case of nemaline myopathy with ophthalmoplegia and mitochondrial abnormalities. 624 53

The author reports the case of a 47-year-old man who developed an acute polyneuritis in the course of the chronic Chagas' disease. Neurological examination on admission forty-five days after onset showed total ptosis of the left eyelid without internal and external ophthalmoplegia. There was moderate diffuse weakness in the limbs. Tendon reflexes were depressed. Plantar responses were normal. The cerebrospinal fluid cell count and protein level were raised. The relationship between chronic Chagas' disease and peripheral polyneuritis is discussed.
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PMID:[Acute atypical polyneuropathy in chronic Chagas' disease: report of a case]. 642 85

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

A clinical, electrophysiological and pathological review of 14 patients having oculoskeletal myopathy with abnormal mitochondria was undertaken. These patients present with ophthalmoplegia, and mild skeletal muscle weakness. The clinical course is slowly progressive. Electromyographic examination shows myopathic changes. Serum enzymes are normal. The diagnosis is confirmed by skeletal muscle biopsy which shows abnormal mitochondria, including crystalloid inclusions on electron microscopy. These patients form a distinct clinical group in which the risk of sudden cardiac death is much less than it is in the Kearns-Sayre syndrome.
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PMID:Oculoskeletal myopathy with abnormal mitochondria. 646 92

A case of the rare juvenile form of Kearns-Shy syndrome with progressive external ophthalmoplegia and lid ptosis, carditis, skeletal muscle weakness, seizures, mental subnormality, short stature, EEG abnormality and deafness is presented. Electromyography revealed a myopathic pattern. Histochemical studies on quadriceps biopsy specimens showed atrophy of type II fibers and "ragged-red fibers." On electron microscopy these muscle cells were seen to contain an increased amount of glycogen particles and abnormal mitochondria were increased in number and size. It is of interest that abrupt deterioration of neurological findings such as seizures, mental subnormality, speech disturbance and deafness was present in our case. Computed tomographic scanning showed progressive changes of cerebral atrophy, low density of cerebral white matter and basal ganglia calcification, which were well associated with the clinical deterioration. A review of the literature also indicated that some patients with this syndrome showed abrupt neurological deterioration in childhood. Involvement of the central nervous system in this syndrome has to be considered as the cause of sudden deterioration and death in childhood.
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PMID:Neurologic deterioration with progressive CT changes in a child with Kearns-Shy syndrome. 648 80

A 30-year-old male drug abuser developed ophthalmoplegia, bulbar paralysis, and limb weakness responsive to edrophonium. However, potentiation of a low-amplitude evoked muscle action potential was produced with repetitive nerve stimulation at 10 Hz, and the clinical and electrophysiological data suggested the diagnosis of botulism. The source of botulism type B toxin was a clinically obscure cyst produced by subcutaneous infiltration of cocaine two weeks prior to the onset of symptoms. The patient improved with chronic administration of pyridostigmine bromide and plasmapheresis. Wound botulism may be underdiagnosed because of confusion with inflammatory neuropathy or myasthenia gravis. Neuromuscular transmission studies in patients with acute craniosomatic paralysis can prevent such oversights.
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PMID:Descending paralysis resulting from occult wound botulism. 648 40

Clinical and electrophysiologic data recorded in patients with Fisher syndrome characterized by ophthalmoplegia, ataxia, and areflexia are presented. Cases with limb weakness or pleocytosis in the CSF were excluded, according to Fisher. Ten patients were selected. All had hand and foot numbness. A large amount of protein without cell reaction was found during the third week of illness in serial CSF examinations. EMGs showed very slight limb involvement without spontaneous activity, and in most cases, facial muscles exhibited a denervation pattern. Distal motor nerve conduction velocity on limbs and F wave latencies were normal, whereas the sensory nerve action potentials were altered in all but one case when tested (seven out of eight cases). By means of blink reflex study performed in four patients, no significant pattern of brainstem dysfunction was discovered. The authors discuss the preeminent role of peripheral nerve lesions with regard to the ataxia and ophthalmoplegia.
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PMID:Miller Fisher syndrome: clinical and electrophysiologic evidence of peripheral origin in 10 cases. 653 72

The aetiology of ophthalmoplegia in 15 patients with carotid-cavernous sinus fistula is discussed, and the clinical findings are correlated with angiographic and orbital CT appearances. After closure of the fistula the majority of patients with generalised ophthalmoplegia recovered full ocular movements rapidly, while patients with an isolated abduction weakness required much longer to return to normal. Orbital CT studies showed enlarged extraocular muscles in the patients with generalised ophthalmoplegia but muscles of normal size in those with abduction failure alone. After closure of the fistula repeat CT studies of patients with enlarged extraocular muscles showed a diminution in muscle size. We suggest that generalised ophthalmoplegia in carotid cavernous sinus fistula is due to hypoxic, congested extraocular muscles. Isolated abduction weakness is due to a sixth nerve palsy, which probably occurs either in the cavernous sinus or more posteriorly near the inferior petrosal sinus. A combination of these 2 mechanisms may be found in some patients.
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PMID:Ophthalmoplegia in carotid cavernous sinus fistula. 669 56

Two patients, one with ataxia, internuclear ophthalmoplegia, muscle weakness, atrophy, fasciculations, and bilateral Babinski's signs, the other with dysarthria, dysphagia, muscle weakness, atrophy, fasciculations, and hyperreflexia, had elevated serum calcium and parathyroid hormone levels, establishing the diagnosis of primary hyperparathyroidism (HPT). Removal of a parathyroid adenoma in one patient and three hyperplastic parathyroid glands in the other resulted in remission of the hyperparathyroidism but left both patients with residual neurological damage. Postmortem examination of the second patient showed typical features of amyotrophic lateral sclerosis. The findings in these patients show that hyperparathyroidism may be associated with signs of severe central nervous system disease and that patients with unexplained neurological signs or symptoms should be checked for hyperparathyroidism.
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PMID:Severe neurological disease associated with hyperparathyroidism. 673 92

A patient with cystic fibrosis and cirrhosis developed a progressive neurological syndrome associated with ataxia, proximal weakness, and ophthalmoplegia. Profound deficiencies of vitamins A, D, and E were present. Visual acuity and results of retinal funduscopy were normal. The pattern reversal visual evoked potential was initially abnormal (P100 latency, 136 and 130 ms from left and right eyes, respectively) but became normal (less than 3 standard deviations from mean control P100 latency) over a two-month period when vitamin E was administered. This case documents a potentially reversible visual evoked potential abnormality in a visually asymptomatic patient with vitamin E deficiency.
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PMID:Reversible visual evoked potential abnormalities in vitamin E deficiency. 673 99


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