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 16-month-old girl was admitted because of bilateral ophthalmoplegia, left blepharoptosis, and disturbance of consciousness. Her symptoms resolved spontaneously within a week after admission, but mild left abducens palsy remained. The cranial computed tomography showed a mild non-specific brain atrophy. The auditory brain stem response was normal. Visual evoked potentials (VEPs) to flash stimuli were repeated serially after the onset. No significative patterns of VEP were evoked during the acute stage. However, three months after the onset, an asymmetrical pattern, namely left-sided abnormalities (not-identified P 100 wave, etc.), was observed. The asymmetrical pattern of VEP diminished six months after. And a bilaterally normal VEP pattern was found twelve months after.
No To Hattatsu 1990 Sep
PMID:[Visual evoked potential abnormalities in a girl with brain stem encephalitis (Bickerstaff)]. 222 89

Adduction deficiency following acute head trauma may result not only from orbital damage but also from internuclear ophthalmoplegia, and in most instances this resolves over weeks to months. To date, noninvasive imaging studies during the acute phase following injury have not been definitive in localizing the pathology. Three cases of adduction deficiency following head trauma that were caused by internuclear ophthalmoplegia are reported. A lesion in the brain stem was found in all three cases by magnetic resonance imaging in the subacute post-traumatic period. These lesions were not visible on routine x-ray computed tomography obtained at the time of injury.
Ophthalmology 1990 Sep
PMID:Early magnetic resonance imaging in acute traumatic internuclear ophthalmoplegia. 223 48

Traumatic intracavernous aneurysms are a distinctly uncommon lesion in children. They usually present with compressive symptoms of the III, IV, V, or VI cranial nerves rather than epistaxis. Epistaxis is rare and usually minor and brief in duration. A child with severe head injury and basal skull fracture, who did not have any preceding symptoms or signs of ophthalmoplegia or exophthalmus, developed massive epistaxis as a leading symptom of the ruptured intracavernous aneurysm. Since there are no reported pediatric cases with fatal epistaxis as a presenting sign, we would like to share our experience.
Childs Nerv Syst 1990 Sep
PMID:Traumatic intracavernous aneurysm in children: massive epistaxis without ophthalmic signs. 225 52

Two patients (a 50-year-old and a 35-year-old men) with focal cytochrome c oxidase deficiency, manifesting ptosis and external ophthalmoplegia of 13 and 6 years' duration, respectively, were reported. Patient 1 (a 50-year-old male) had also slight muscular weakness of the proximal limb and neck flexor muscles. Diagnosis of myasthenia gravis had been made on the clinical findings including ptosis and external ophthalmoplegia, diurnal fluctuation of symptoms, and equivocal positive Tensilon test. However, waning phenomenon on repetitive nerve stimulation or elevation of titer of the anti-acetylcholine receptor antibody was not detected on both patients. Needle EMG showed mild myopathic changes. Finally, pathological and biochemical analyses of the biopsied muscles confirmed the diagnosis of mitochondrial myopathy (focal cytochrome c oxidase deficiency).
Rinsho Shinkeigaku 1989 Sep
PMID:[Two cases of mitochondrial myopathy (focal cytochrome c oxidase deficiency), long-term follow-up on a diagnosis of ocular type myasthenia gravis]. 255 82

Ragged-red fibers (RRFs) are mainly seen in mitochondrial myopathy and related to biochemical defects in electron transfer chain on some occasions. Recently, some papers reported the occurrence of RRFs in the biopsied muscle of myotonic dystrophy (MyD). To examine whether the mitochondrial function is disturbed in MyD, we have studied the biopsied muscles of 12 cases with MyD (10 males and 2 females averaging 38 years of age) morphologically and mainly biochemically. RRFs, ranging from 2--20% of the muscle fibers, were identified in 5 out of 12 cases. On electron microscopy, these fibers had aggregated abnormally enlarged mitochondria with dene bodies, concentrically whirled membranous cristae and paracrystalline inclusions. Clinically, 4 of 5 cases with RRFs had mild to moderate and only 2 of 7 without RRFs had ophthalmoplegia. Bicycle ergometer exercise test showed abnormal increase of lactate/pyruvate ratio in three cases with RRFs. Histochemically, cytochrome c oxidase (CCO) activity was absent selectively in all of the RRFs. Immunohistochemical staining showed the presence of CCO protein by using monoclonal antibody which was specific to CCO subunit IV. Biochemical study with crude muscle extract of 11 cases of MyD showed decreases in NADH dehydrogenase, NADH CoQ reductase, succinate CoQ reductase (SCR), CCO, carnitine actyl transferase activities in most of cases regardless RRFs. To avoid the influence possibly derived from the various stages of muscle degeneration in the biopsied specimens, we calculated the ratio of the enzyme activities compared with succinate dehydrogenase which was located in the electron transfer chain and did not show any statistical difference regardless of RRFs.(ABSTRACT TRUNCATED AT 250 WORDS)
Rinsho Shinkeigaku 1989 Sep
PMID:[A study of mitochondrial electron transfer chain in myotonic dystrophy]. 259 36

A 19-year-old man with chronic progressive external ophthalmoplegia with deleted mitochondrial DNA was reported. Neurological examination revealed bilateral external ophthalmoplegia, hearing loss of sensorineural type, short stature, mental retardation, muscle atrophy and weakness in the proximal muscles. Lactate and pyruvate levels were elevated in both serum and cerebrospinal fluid (CSF). Protein concentration was slightly increased in CSF. Electromyogram showed myopathic changes on all the muscles examined. Ragged-red fibers were found in biopsied rectus femoris muscle, stained with modified Gomori trichrome. Scattered cytochrome c oxidase deficient fibers were encountered. The computed tomography of the brain showed mild cerebral and cerebellar atrophy without any abnormal calcification or hypo-lucency. Southern blot analysis of the mitochondrial DNA (mtDNA) extracted from the patient's muscle revealed mixed population of mtDNA, consisting of the normal one and partially deleted one. The size of the deletion was about 4.5-kilobase. The region included the sequences coding for at least four subunits of Complex I, one subunit of Complex IV, two subunits of Complex V and five tRNAs. There may be a "hot area" on the mitochondrial genome that is more prone to be deleted than other regions of mtDNA. Southern blot analysis is usefull for the diagnosis of KSS or CPEO.
Rinsho Shinkeigaku 1989 Sep
PMID:[Chronic progressive external ophthalmoplegia (CPEO) with deleted mitochondrial DNA]. 259 47

Four typical cases of the Miller Fisher syndrome with external ophthalmoplegia, ataxia and generalized areflexia but no muscular weakness or sensory impairment of the limbs are reported. The nosological position of this disorder is reviewed.
Arq Neuropsiquiatr 1989 Sep
PMID:[Miller Fisher syndrome: a report of 4 cases and review of the nosologic position]. 261 16

A case of mitochondrial encephalomyopathy (Kearns-Sayre syndrome) with corneal endothelial abnormality is reported. A 22-year-old woman had retinitis pigmentosa, external ophthalmoplegia, complete heart block, ataxia, muscle weakness, dementia, sensorineural hearing loss, and was of short stature. Renal dysfunction, diabetes mellitus, and amenorrhea were also observed. Biopsy revealed decreased cytochrome c oxidase (complex IV) activity in muscle mitochondria. The corneal endothelium examined by specular microscope showed decreased cell density, severe polymegathism, and pleomorphism in both eyes. To our knowledge, this is the first report concerning primary corneal endothelial abnormality in a case with mitochondrial encephalomyopathy. The corneal endothelium is one of the tissues that could be affected by the enzyme deficiency present in this disease.
Cornea 1989 Sep
PMID:Corneal endothelium in a case of mitochondrial encephalomyopathy (Kearns-Sayre syndrome). 274 82

Two young Arab women presented with a very rapid loss of vision, ophthalmoplegia, florid papilledema, areflexia of the lower limbs, and normal mentation. Lumbar puncture pressure was above 60 cm H2O, but no intracranial structural lesion was found in either patient. An exhaustive evaluation as to an etiology was negative in both. Under continuous lumbar cerebrospinal fluid drainage and administration of steroids, furosemide, and acetazolamide, both patients had significantly improved vision and ocular movement. In both, lumboperitoneal shunting was considered but only one eventually underwent this procedure. These two patients with pseudotumor cerebri are unique in their fulminant clinical course and severely increased intracranial pressure. Virtually inevitable blindness was prevented by timely intervention.
J Neurosurg 1989 Sep
PMID:Malignant pseudotumor cerebri. Report of two cases. 276 95

We review our recent experience with occlusion of the cervical internal carotid artery (ICA) in 15 patients with symptomatic aneurysms of the cavernous segment. All the patients were women and ranged in age from 38 to 74 years. Ten patients sought treatment initially for ophthalmoplegia, 9 for retro-orbital pain, 8 for facial paresthesia, and 3 for loss of vision. Two patients had symptoms of transient ocular or brain ischemia. The diameter of the aneurysm was greater than 3 cm in 10 patients. Ten patients underwent gradual occlusion of the ICA by Selverstone clamp under anticoagulation and monitoring of neurological status. One patient underwent ligation of a severely stenotic ICA under general anesthesia and electroencephalographic monitoring. Four patients underwent trapping of the aneurysm (after attempts at direct obliteration) under electroencephalographic and cerebral blood flow monitoring. Two patients with incompetent circle of Willis collaterals underwent prophylactic superficial temporal artery to middle cerebral artery bypass surgery prior to ICA occlusion. There was no postoperative clinical change in 9 patients. Ophthalmoplegia improved in 2 patients, and facial pain improved in 3. Three patients developed new extraocular muscle palsies within hours of ICA occlusion; these resolved in all patients by 1 week postoperatively. No change in aneurysm size was documented by serial postoperative computed tomographic or magnetic resonance imaging scans. After a follow-up of 5 to 6 years (range, 6 months-9 years), 11 patients have remained neurologically stable. Two patients experienced delayed transient worsening of visual or facial symptoms.(ABSTRACT TRUNCATED AT 250 WORDS)
Neurosurgery 1989 Sep
PMID:Internal carotid artery occlusion for cavernous segment aneurysm. 277 Oct 11


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