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)

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

We reported siblings with spinocerebellar ataxia type 1 (SCA 1), diagnosed by detection of the expansion of CAG repeat in SCA 1 gene on chromosome 6. They were a 55-year-old woman (patient 1) and a 51-year-old woman (patient 2). There were eleven patients among the four generations in their family. They were from Obanazawa City in Yamagata Prefecture, located in the north-west region of Japan. The mode of inheritance was autosomal dominant. We confirmed the expansions of CAG repeat in SCA 1 gene in both patients. Clinically, they showed cerebellar ataxia and pyramidal signs especially in the lower extremities. The Patient 1 showed progressive external ophthalmoplegia without nystagmus, generalized amyotrophy and choreic movement of the fingers in advanced stage. On X-ray CT scan or MRI, the brainstem and cerebellum of the patient 1 were mildly atrophic, while those of the patient 2 showed normal appearances. Olivopontocerebellar atrophy is essential histopathological feature of SCA 1. However, some cases exhibit normal appearances of the brainstem on radiological imagings, because the brainstem involvement is often mild in SCA 1 patients.
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PMID:[Siblings with spinocerebellar ataxia type 1 (SCA 1)--diagnosis by detecting the expansion of CAG repeat on chromosome 6p]. 792 69

Controversy regarding the nosological position of the syndrome of ophthalmoplegia, ataxia and areflexia (Miller Fisher syndrome) exists. The oculomotor dysfunction was presumed to represent an unusually symmetrical peripheral cranial nerve dysfunction. To investigate the neuro-ophthalmic manifestations in this rare syndrome we reviewed 109 reports describing 243 cases. The ophthalmoplegia was remarkable in its constant association with a cerebellar type ataxia. It was described to be remarkably symmetrical at all stages of development and recovery. From the early description of the syndrome by Fisher the ophthalmoplegia was observed to evolve as a symmetrical failure of upgaze followed by loss of lateral gaze and last by downgaze, recovery develops in the opposite pattern. Despite the severe nature of the ophthalmoplegia, 58 patients were reported to have sparing of downgaze and 192 (79%) had relative sparing of the eye lids. Active lid retraction and preserved Bell's phenomenon, despite upgaze paralysis, were described in 22 and 15 patients respectively. Upper lid jerks were described in 2, Parinaud's syndrome in 2, convergence spasm in 6, internuclear ophthalmoplegia in 15 and horizontal dissociated nystagmus in 11. Interestingly 23 were reported to present with paralysis of abduction progressing to lateral gaze paralysis and 5 had paralysis of abduction and contralateral gaze paralysis. Four had defective vestibulo-ocular reflex despite recovery of upgaze, 10 had central type nystagmus including rotatory, retractory and rebound nystagmus. Relative preservation of optokinetic nystagmus and preservation of vestibulo-ocular reflex despite an otherwise complete ophthalmoplegia were reported in 6 and 2 patients respectively.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Neuro-ophthalmic manifestations of the syndrome of ophthalmoplegia, ataxia and areflexia: a review. 803 Mar 96

Fourteen patients (10 boys, 4 girls) aged from 4 months to 14 years old were diagnosed with mitochondrial disease based on the clinical manifestations together with abnormal muscle mitochondrial morphologies. Their clinical diagnoses included Leigh syndrome, three; Menkes' syndrome, three; Kearns-Sayre syndrome, two; myoclonic epilepsy with ragged fibres, one; and infant-onset progressive myoclonic epilepsy, one; fatal infantile mitochondrial myopathy, one; fatty acid oxidation defect, two; and myopathy with cardiopathy, one. Organs involved other than muscles included central nervous system, ten; heart, six; eye, two; liver, two; and kidney, two. Clinical manifestations varied to include hypotonia, seizures, myoclonus, mental retardation, nystagmus, ataxia, ptosis, ophthalmoplegia, retinal degeneration, muscle atrophy, spasticity etc. Nine had an abnormal rise in lactate after glucose loading. Ragged-red fibres were found in four patients. Abnormal mitochondrial morphology included abnormal accumulation, abnormal cristae pattern of tubular, concentric, or parallel form, some contained osmiophilic inclusion bodies. One patient of Leigh syndrome had had brain necropsy which showed intramyelin splitting of myelinated axons.
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PMID:Clinical manifestation of mitochondrial diseases in children. 821 54

We studied horizontal saccades by direct-current electro-oculography in 18 patients with internuclear ophthalmoplegia (INO), and in 16 healthy, age-matched subjects. The occurrence of abducting signs, i.e. overshoot and dissociated nystagmus, was related to an increase of interocular dissociation (measured by the ratio of abduction and adduction peak velocities). The amplitude of abduction hypermetria was strongly correlated with the intensity of adduction slowing. These findings support the idea of an adaptive mechanism underlying the overshoot and nystagmus of abduction saccades in INO.
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PMID:Saccades in internuclear ophthalmoplegia: are abduction disorders related to interocular disconjugacy? 844 98

Review of the medical records of 2 major adult teaching hospitals for a 4-year period revealed 33 instances of carbamazepine overdose. These patients had a mean age of 30 years and 58% were known epileptics. They ingested a mean of 12g carbamazepine (range 1.6 to 45g), with 51% of cases involving other drugs, particularly alcohol. The clinical manifestations of toxicity formed a recognisable clinical picture of diminished conscious state (100% of patients), mydriasis (42%), abnormal muscle tone and tendon reflexes (55%) and ataxia, nystagmus or ophthalmoplegia (48%). 24% of cases were complicated by seizures. The incidence of hyperglycaemia and hypokalaemia were related to higher drug concentrations. 12% showed hyponatraemia and 50% had transient evidence of hepatic dysfunction. The pharmacokinetic properties of carbamazepine play a role in determining management strategies. Management is largely supportive through avoidance of drug interactions, large doses of activated charcoal, careful airway management and correction of electrolyte disturbances.
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PMID:Carbamazepine overdose. Features of 33 cases. 847 Nov 90

Wernicke's encephalopathy, neuropathy caused by a deficiency of thiamine is a syndrome characterized by memory troubles, mental confusion, ophthalmoplegia and nystagmus. The authors present a case that came up in a patient who underwent a subtotal gastrectomy because of malignant neoplasm of the stomach. More or less three months after the intervention the patient's general conditions were considerably declined and characterised by alimentary vomit, sensory obnubilation and neuromuscular deficit. After appropriate diagnostic ascertainments a repetition of the neoplastic disease was to be excluded locally and at a distance. So the authors analysed the different etiopathogenic possibilities to get a better clinical view of the syndrome in the surgical patient.
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PMID:Wernicke's encephalopathy post subtotal extended gastrectomy. 854 60

Thiamine deficiency is known to lead to certain neurological sequelae including Wernicke- Korsakoff encephalopathy. Signs attributable to this condition include ataxia, ophthalmoplegia, nystagmus, and mental confusion. Recognised predisposing conditions include alcoholism gastric carcinoma, pyloric obstruction, hyperemesis gravidarum, and prolonged intravenous feeding. We have recently encountered two cases of Wernicke's encephalopathy after vertical banded gastroplasty for morbid obesity . Other neurological sequelae are recognised after vertical banded gastroplasty, including Guillain-Barre syndrome, psychosis, and pseudoathetosis, but the causes are multifactorial.
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PMID:Wernicke's encephalopathy after vertical banded gastroplasty for morbid obesity. 863 78

The local expression of tuberculous meningitis has an high incidence. They respond to a Koch bacillus direct lesion or vasculitis disease. The clinic implication of ocular movement is frequent and usually answers to a nervous trunk direct injury. Exceptionally the clinic expression of the oculomotor disturbance is due to a conjugate ocular tract or nucleus damage. The posterior internuclear ophthalmoplegia is a well-known manifestation and correspond with a dwindle of the medial longitudinal fasciculus electrical transmission and lies in falling of the medial rectus to move synchronously with the contralateral rectus on attempted lateral gaze to either side. In such a case the medial longitudinal fasciculus is damaged between the sith nerve nucleous below and the opposite third nerve nucleus above. A patient with AIDS B3 category who presents right internuclear ophthalmoplegia and right eye vertical conjugate gaze impairment with left vertical nystagmus due to a paramedial mesencephalic stroke as debut of a linfocitary subacute meningitis is present.
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PMID:[Atypical internuclear ophthalmoplegia in a patient with subacute lymphocytic meningitis]. 868 Nov 98

See-saw nystagmus is an uncommon but characteristic kind of nystagmus. Typically there is intorsion and elevation of one eye and simultaneous extorsion and depression of the other eye. The nystagmus can be of pendular-waveform or jerk-waveform. The pendular-waveform see-saw nystagmus is commonly due to a midline meso-diencephalic, bilaterally compressing mass. The jerk-waveform see-saw nystagmus is mostly due to a unilateral lesion in the meso-diencephalic junction. For explanation, a current theory assumes a unilateral lesion of the interstitial nucleus of Cajal sparing the rostral interstitial nucleus of the medial longitudinal fascicle. Another concept suggests a lesion of the vertical vestibulo-ocular-reflex. We report two patients with jerk-waveform see-saw nystagmus. In both patients an internuclear ophthalmoplegia was found additionally. The origin was a unilateral brainstem infarction in both cases. We explain the symptomatology of see-saw nystagmus and discuss the actual theories of its origin.
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PMID:[See-saw nystagmus. Clinical aspects, diagnosis, pathophysiology: observations in 2 patients]. 876 3


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