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 49-year-old man who had been suffering from poorly controlled diabetes mellitus for 20 years was admitted to our hospital with the chief complaints of diplopia and right ptosis. The onset of his symptoms was sudden. On admission, he had right palpebral ptosis, upward and left lateral gaze paresis of the right eye. Hess screen chart examination revealed paresis of the right superior rectus, inferior oblique and medial rectus muscles. T2 weighted magnetic resonance imaging (MRI) revealed high intensity area in the medial part of the right midbrain tegmentum where the oculomotor nucleus located, and diffusion weighted MRI demonstrated high intensity area which corresponded to the oculomotor fascicles of the midbrain. The latter represented Wallerian degeneration of the fascicles. The diagnosis of small infarction of the right oculomotor nucleus presenting ipsilateral external ophthalmoplegia was made. The superior rectus muscle is innervated by the neurons in the contralateral oculomotor nucleus, and the other external ocular muscles innervated by the third cranial nerve are conducted by the neurons in the ipsilateral oculomotor nucleus; therefore, unilateral oculomotor nuclear lesion generally causes ipsilateral ophthalmoplegia plus contralateral superior rectus palsy. Our case presented here shows that there may be such a case with oculomotor nuclear disturbance which masquerades with oculomotor fascicular or infranuclear disturbance; therefore, it is important to include these lesions in differential diagnosis.
Rinsho Shinkeigaku 1994 Sep
PMID:[Unilateral external ophthalmoplegia caused by ipsilateral oculomotor nuclear lesion: analysis with diffusion weighted MRI]. 782 Sep 68

A patient with a history of migraine without aura developed a complete left III nerve palsy a day after the onset of bilateral throbbing headache associated with vegetative symptoms. Magnetic resonance imaging showed a hemorrhagic pituitary adenoma as the probable cause of the symptoms, presumably by a compressive mechanism. This case suggests a further possible cause of ophthalmoplegia associated with migraine and confirms the clinical utility of magnetic resonance imaging in the differential diagnosis of ophthalmoplegic migraine and other conditions in which the symptomatology is secondary to intracranial lesions.
Headache 1994 Sep
PMID:Ophthalmoplegic migraine-like syndrome due to pituitary apoplexy. 796 Jul 35

Magnetic resonance imaging (MRI) revealed a small midpontine tegmentum infarction in a patient with Fisher's one-and-a-half syndrome. The lesion was extremely restricted to the unilateral paramedian area of the midpontine tegmentum involving both the paramedian pontine reticular formation and medial longitudinal fasciculus. The typical form of this syndrome, that is, a combination of lateral gaze palsy and unilateral internuclear ophthalmoplegia, can be caused by a midpontine lesion.
Keio J Med 1994 Sep
PMID:Midpontine tegmentum infarction with "one-and-a-half syndrome" demonstrated by magnetic resonance imaging. 796 12

We describe a 15-year-old boy with full-blown mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) and chronic progressive external ophthalmoplegia (CPEO). He presented with visual disturbance, hearing impairment, continuous partial epilepsy on the right aspect of the face, and right hemiparesis since the age of 13. Four months later, he experienced another strokelike episode with continuous partial epilepsy on the left hand. Serial computed tomographic scans revealed bilateral parieto-occipital hypodense lesions with gyral enhancement and an additional low-density lesion in the right frontal area 4 months later, respectively. Results of laboratory examinations disclosed lactic acidosis and mitochondrial myopathy with many ragged-red fibers. To identify the defective gene in mitochondrial DNA, a simple molecular test was performed by using restriction endonuclease Apa I. A transition from A to G was found at nucleotide position 3243 of the tRNA(Leu) gene. Interestingly, the patient also had marked external ophthalmoplegia and ptosis commonly found in patients with CPEO. Therefore, we suggest that ophthalmoplegia also occurs in the MELAS syndrome.
Arch Neurol 1993 Sep
PMID:Ophthalmologic manifestations in MELAS syndrome. 836 52

Recent studies analyzing mtDNA have established to elucidate the molecular pathology of mitochondrial encephalomyopathies. The human mitochondrial genome is 16,569 bp circular double-stranded molecule that is maternally inherited. Since the first report on large deletions of mtDNA in patients with progressive external ophthalmoplegia (PEO) by Holt et al in 1988, various mtDNA mutations were found. On the basis of the recent findings of mtDNA mutations, genetic classification of mitochondrial diseases has been proposed by S DiMauro in 1991. (1) large deletions or duplications of mtDNA were found in PEO and Pearson disease. (2) A single base substitution were reported in several mitochondrial encephalomyopathies as follows: (a) At nucleotide position 11778, 4136 or 4160......Leber's hereditary optic neuritis, (b) 8344......MERRF, (c) 3243 or 3271......MELAS, (d) 8993......Holt's disease.
Nihon Rinsho 1993 Sep
PMID:[Mitochondrial encephalomyopathies: pleomorphism of the mitochondrial DNA mutations and clinical features]. 841 14

We reviewed familial cases of chronic progressive external ophthalmoplegia (CPEO) associated with multiple mitochondrial DNA (mtDNA) deletions. A new case of familial CPEO with multiple mtDNA deletions, which were detected in the proband's skeletal muscles by Southern blotting and in all the tissues examined by using the polymerase chain reaction is also described. There was an approximate correlation between the clinical severity of the muscle involvement and the amount of mtDNA with deletions. Most of these familial CPEO cases, with multiple mtDNA deletions, exhibited an autosomal dominant mode of transmission. Abnormalities of some nucleus-driven factors, involved in the replication of mtDNA, may result in these multiple mtDNA deletions.
Nihon Rinsho 1993 Sep
PMID:[Multiple mitochondrial DNA deletions in chronic progressive external ophthalmoplegia (CPEO)]. 841 18

We here report a case of Miller Fisher syndrome (MFS) in which serum anti-cerebellar antibody was detected by Western blot analysis. The 32-year-old male studied suffered from diplopia, gait ataxia and sensory disturbance in the distal portion of the upper limbs preceded by cold-like symptoms. Neurological examination on admission revealed that he had external ophthalmoplegia with bilateral ptosis, cerebellar ataxia and areflexia. A cerebrospinal fluid examination showed albuminocytologic dissociation with a protein concentration of 60 mg/dl. Brain CT and MRI showed no significant abnormalities. The patient was diagnosed as MFS, and treated it with two sessions of immunoadsorption plasmapheresis (IAPP). After receiving IAPP therapy, the patient's neurological symptoms and signs were improved. Western blot analysis showed the existence of antibody directed against mouse cerebellum but not against mouse cerebrum, brain stem, and spinal cord in his serum, the level of which was decreased after the IAPP therapy. Serum anti-GQ1b antibody was also elevated. As far as we are aware, there have been no reports showing the existence of anti-cerebellar antibodies detected by Western blot analysis. Though the pathogenesis of MFS remains unclear, our findings suggest that anti-cerebellar antibody detected by Western blot analysis may be caused by cerebellar ataxia in MFS.
Arerugi 1995 Sep
PMID:[The detection of anti-cerebellar antibody western blot analysis in serum from a patient with Miller Fisher syndrome]. 853 14

Three sisters suffering from an unusual form of Gaucher's disease are described. These patients had cardiovascular abnormalities consisting of calcification of the ascending aorta and of the aortic and mitral valves. Neurological findings included ophthalmoplegia and saccadic eye movements in two patients, and tonic-clonic seizures in the third. The three patients died, two of them after having undergone aortic valve replacement. Tissue was obtained from one of the sibs and fibroblast and liver beta-glucocerebrosidase activity was reduced to 4% and 11% of mean normal values. Genotype analysis indicated that the patient was homozygous for the D409H mutation. It is tempting to relate the phenotype of severe cardiac involvement to the D409H/D409H genotype, although further cases will be needed before this association can be confirmed.
J Med Genet 1995 Sep
PMID:Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation. 904 1

Kearns-Sayre syndrome (KSS) is a form of mitochondrial myopathy in which specific clinical features, namely progressive external ophthalmoplegia, pigmentary retinal degeneration and onset before age 20 occur. It can also be associated with cardiac conduction defects, neurological and variety of endocrine and metabolic disorders. Recognition of mtDNA deletion as the genetic basis of KSS has confirmed the validity of clinical criteria. The purpose of the report is to describe a 30-year-old woman presenting typical clinical features of KSS. On muscle biopsy ragged red fibres and mitochondrial abnormalities on electron microscopy were seen. In spite of menstrual disturbances she became pregnant and delivered health child. In 30 week of pregnancy the VVI pacemaker was implanted because of syncope most probably related to paroxysmal complete heart block.
Pol Arch Med Wewn 1995 Sep
PMID:[Complete heart block treated with electrotherapy in a 30-year-old pregnant women with Kearns-Sayre syndrome]. 859 65

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.
Childs Nerv Syst 1996 Sep
PMID:Miller Fisher syndrome in infancy. 890 74


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