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 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

Two adolescent boys with Kearns-Sayre syndrome (progressive external ophthalmoplegia, heart block, elevated CSF protein, and ragged-red muscle fibers) developed lethargy, increasing somnolence, polydipsia, polyphagia, and polyuria after a brief course of steroid therapy. Both had hyperglycemia and acidosis. Nonketotic, lactic acidosis was present in one and ketosis in the other. Severe respiratory failure developed, and both patients died. Postmortem revealed fatty infiltration of the pancreas in addition to a diffuse spongiform encephalopathy.
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PMID:Fatal metabolic acidosis, hyperglycemia, and coma after steroid therapy for Kearns-Sayre syndrome. 370 1

We encountered an apparent bilateral internuclear ophthalmoplegia (INO) in a stuporous patient who used narcotics and benzodiazepines and had taken phenytoin sodium for drug-withdrawal seizures. The INO was promptly reversed by administration of the narcotic antagonist naloxone, which binds opiate receptors. This suggests the INO resulted from a specific toxic effect of narcotics, but opiate receptors have not been anatomically demonstrated within the medial longitudinal fasciculus or associated structures. Stimulation of inhibitory GABA-ergic (alpha-aminobutyric acid) vestibulo-ocular fibers may have been related to INO in this case.
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PMID:Bilateral internuclear ophthalmoplegia reversed by naloxone. 683 Apr 74

We report an autopsy case of progressive supranuclear palsy (PSP) with a five-year clinical course. A 67-year-old man was suffering from a gait disturbance and mental deterioration. Neurological examination at the age of 71 revealed pseudobulbar palsy, horizontal ophthalmoplegia, and truncal dystonia, and a diagnosis of PSP was made. Mental deterioration including forgetfulness and character change was also noted, and the patient sometimes exhibited intermittent stuporous states. Cranial computed tomography and magnetic resonance images revealed moderate brain atrophy, predominantly in the frontal lobes. The patient died of bronchopneumonia at the age of 71. Neuropathological examination confirmed typical pathological changes of PSP, such as neuronal loss, neurofibrillary tangles, and fibrillary gliosis in the subcortical nuclei. Gallyas-Braak silver impregnation revealed neurofibrillary tangles, silver-positive glia and thread-like structures in degenerating subcortical nuclei. In addition to these classical lesions, the argentophilic structures were detected in the cerebral cortex, cortical white matter and cerebellar white matter. In the cerebral cortex, they were abundant mostly in the precentral gyrus and subcortical white matter. Immunohistochemical studies revealed that most silver-positive structures were also tau 2 antibody-positive. Thus, these argentophilic structures seemed to be closely related to abnormal tau protein. Their distribution in this case implies that lesions related to abnormal tau protein may occur more extensively in the brains of PSP than expected.
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PMID:[Widespread argentophilic structures in progressive supranuclear palsy--an autopsy case report]. 806 Jun 88

Miller Fisher syndrome (MFS) is characterized by the triad of ataxia, areflexia and ophthalmoplegia. It is exceptional for infants to be involved. Two infants, aged 11 and 16 months, developed acute-onset MFS. Both patients had prodromal upper respiratory tract infection. Pupillary responses to light, strength and sensation modalities were preserved. One patient was lethargic for a day; the electroencephalogram disclosed slightly slow background activity that later became normal. The other received high-dose intravenous immunoglobulins for 5 consecutive days starting at once on admission; within the next 7 days he became asymptomatic. Increased cerebrospinal fluid protein content and delayed nerve conduction studies with prolonged distal latencies were encountered in both patients.
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PMID:Miller Fisher syndrome in infancy. 890 74

A 29-year-old man presented with lethargy, headache, high fever, and visual disturbance. Neurological examination showed mydriatic pupil, ptosis, diminished light reflex, and ophthalmoplegia on the left. Magnetic resonance (MR) imaging showed the typical findings of pituitary apoplexy, and cerebral angiography disclosed mild narrowing of the A1 segment of the left anterior cerebral artery (ACA). Transsphenoidal tumor resection was performed. Transient severe right hemiparesis occurred directly after the operation. Computed tomography demonstrated cerebral infarction in the territory of the left Heubner's and medial lenticulostriate arteries. Pituitary apoplexy followed by cerebral infarction is very rare. Vasospasm of the perforating arteries of the ACA probably caused the cerebral infarction. Subarachnoid blood or vasoactive agents released from the tumor were the most likely cause of the vasospasm. MR imaging findings of contrast enhancement around the vessels may indicate reactive processes around the vessels.
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PMID:Cerebral infarction following pituitary apoplexy--case report. 1560 Feb 83

We report 10 children (7 male, 3 female), 3 homozygous for c.319C>T mutation and 7 heterozygous for c.319C>T on one allele and c.625G>A variant on the other in the short-chain acyl-CoA dehydrogenase (SCAD) gene (ACADS). All were of Ashkenazi Jewish origin in which group we found a c.319C>T heterozygote frequency of 1:15 suggesting the presence of a founder mutation or selective advantage. Phenotype was variable with onset from birth to early childhood. Features included hypotonia (8/10), developmental delay (8/10), myopathy (4/10) with multicore changes in two and lipid storage in one, facial weakness (3/10), lethargy (5/10), feeding difficulties (4/10) and congenital abnormalities (3/7). One female with multiminicore myopathy had progressive external ophthalmoplegia, ptosis and cardiomyopathy with pneumonia and respiratory failure. Two brothers presented with psychosis, pyramidal signs, and multifocal white matter abnormalities on MRI brain suggesting additional genetic factors. Two other infants also had white matter changes. Elevated butyrylcarnitine (4/8), ethylmalonic aciduria (9/9), methylsuccinic aciduria (6/7), decreased butyrate oxidation in lymphoblasts (2/4) and decreased SCAD activity in fibroblasts or muscle (3/3) were shown. Expression studies of c.319C>T in mouse liver mitochondria showed it to be inactivating. c.625G>A is a common variant in ACADS that may confer disease susceptibility. Five healthy parents were heterozygous for c.319C>T and c.625G>A, suggesting reduced penetrance or broad clinical spectrum. We conclude that the c.319C>T mutation can lead to wide clinical and biochemical phenotypic variability, suggesting a complex multifactorial/polygenic condition. This should be screened for in individuals with multicore myopathy, particularly among the Ashkenazim.
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PMID:Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin. 1805 10

A 58-year-old white woman presented with sudden onset of diplopia, headache and vomiting with a history of tiredness and lethargy over the past four to six months. She had smooth, pale, hairless skin and on examination she was found to have left-sided third and sixth nerve palsy. Laboratory tests confirmed pan-anterior hypopituitarism. Computerized tomography scan of head and magnetic resonance imaging appearances were consistent with those of a sphenoid sinus mucocoele. Following adequate replacement with hydrocortisone and thyroxine she underwent sphenoid mucocoele drainage and endoscopic left sphenoethmoidectomy. Her symptoms were relieved over the next few days and she had a near-total recovery of ophthalmoplegia over the following three months. Pituitary function tests showed partial resolution of hypopituitarism with recovery of hypothalamic-pituitary-adrenal axis and hydrocortisone therapy was withdrawn, but she continued to require thyroxine.
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PMID:Sphenoid mucocele: an uncommon complication of a rare condition. 2291 86

Bickerstaff's brainstem encephalitis is characterized by ophthalmoplegia, ataxia, and disturbance of consciousness. It is similar to Miller Fisher syndrome, a variant of Guillain-Barre syndrome, in that they share features such as ophthalmoplegia and ataxia. The difference is that patients with Bickerstaff's brainstem encephalitis have impaired consciousness, whereas patients with Miller Fisher syndrome have alert consciousness and areflexia. Here, we report the case of a 3-year-old child who was diagnosed with Bickerstaff's brainstem encephalitis presenting typical clinical features and interesting radiological findings. The patient showed ophthalmoplegia, ataxia, and subsequent stuporous mentality. Brain magnetic resonance imaging revealed high signal intensity in the pons and cerebellum around the 4th ventricle on a T2-weighted image. He was successfully treated with intravenous immunoglobulin. Differentiation of Bickerstaff's brainstem encephalitis and Miller Fisher syndrome is often difficult because they possess many overlapping features. Brain magnetic resonance imaging may be helpful in diagnosing Bickerstaff's brainstem encephalitis, especially when lesions are definitely found.
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PMID:A pediatric case of Bickerstaff's brainstem encephalitis. 2565 89

A 48-year-old, black female with a history of heroin and daily alcohol abuse presented to the emergency room in a lethargic state with severe right eye pain and vision loss. She had been unconscious for 10 hours prior to presentation. On exam she was found to have no light perception vision, severe retinal edema, and complete ophthalmoplegia of the right eye. Imaging and clinical course confirmed the diagnosis of Saturday Night Retinopathy--only the second documented case to be published.
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PMID:Saturday Night Retinopathy: Characterization of a Rare Ophthalmic Condition. 2673 Dec 17


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