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)

We report on an 8-year-old boy with clinical manifestations suggestive of a new arthrogryposis syndrome. These included characteristic craniofacial abnormalities, cleft palate, arthrogryposis multiplex congenita, pulmonary hypoplasia, cryptorchidism, and unusual ophthalmological findings. There was no intrauterine growth retardation or decreased fetal movements. Despite the poor prognosis expected in early life, the patient presented with normal mental capability on follow-up. Family data showed that a maternal first cousin of the mother (mother's brother's son) had similar findings and died in infancy. Differential diagnosis included Pena-Shokeir syndrome or phenotype, Gordon syndrome, Marden-Walker syndrome, and the syndrome of arthrogryposis with ophthalmoplegia and retinopathy. The possibility of autosomal dominant inheritance with reduced penetrance is suggested for this apparently new syndrome.
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PMID:Arthrogryposis multiplex congenita, craniofacial, and ophthalmological abnormalities and normal intelligence: a new syndrome? 928 45

Kearns-Sayre syndrome (KSS) is a sporadic multisystem mitochondrial disorder characterized by progressive external ophthalmoplegia, pigmentary retinopathy, onset before age 20, and severe cardiac conduction defects that can lead to death. KSS patients harbor partial deletions of mitochondrial DNA (delta-mtDNA), sometimes associated with the corresponding mtDNA duplication (dup-mtDNA). As reports on the distribution of dup-mtDNAs among KSS tissues are scarce, we searched for the presence of dup-mtDNAs in different autopsy tissues of two such patients, one of whom carried the so-called "common deletion." Using a newly developed long polymerase chain reaction (PCR) protocol in conjunction with Southern blot analyses, we found dup-mtDNAs in most of the examined tissues from both patients. The proportion of dup-mtDNA in these tissues was much lower than the proportion of delta-mtDNA, with one notable exception: in both patients, we found an unusually high level of dup-mtDNA in the heart. These data suggest that dup-mtDNAs may be more stable in heart tissue of KSS patients than in other long-lived postmitotic tissues.
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PMID:High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heart. 928 53

Kearns-Sayre syndrome (KSS) is a progressive neuromuscular disease characterized by ophthalmoplegia, cardiac conduction block, and pigmentary retinopathy associated with abnormal mitochondrial structure and function. Usually mitochondrial DNA (mtDNA) deletions have been associated with Kearns-Sayre syndrome and chronic progressive external ophthalmoplegia. Size and position of the deletions differ markedly among these patients. The present study confirms this observation for a patient with KSS by a muscle and nerve biopsy in which we detected a 1.2 kb mtDNA deletion. The location of the deletion, however, is unusual in this case: its position comprises nucleotides 14952 to 15739. The defect is heteroplasmic and concerns the cytochrome b and tRNA genes. Complex I and IV of the respiratory chain were intact in this case, indicating that below a threshold of tRNA formation, the impaired biosynthesis and membrane integration of one respiratory complex may cause the phenotypical appearance of the KSS syndrome associated with a subclinical neuropathy.
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PMID:Mitochondrial cytochrome b gene deletion in Kearns-Sayre syndrome associated with a subclinical type of peripheral neuropathy. 983 55

A 33-year-old Japanese man had Kearns-Sayre syndrome (KSS), which consists of the triad of external ophthalmoplegia, heart block, and "salt-and-pepper" retinopathy. The other systemic manifestations included sensorineural hearing loss, slight generalized muscle weakness, cerebellar ataxia, and elevated levels of cerebrospinal fluid protein. He exhibited a heteroplasmic mitochondrial DNA deletion of approximately 9 kb between the cytochrome c oxidase subunit 1 and cytochrome b genes. In the authors' experience, this deletion is one of the longest to be observed in such patients. His fundi were characterized bilaterally by white flecks in the inner layers of retina at the midperiphery. Visual evoked potentials showed delayed latency in the P100 component. The tibial somatosensory evoked potential revealed a marked prolongation of interpeak latency between the N20 and P40 components. Brain magnetic resonance images revealed high-intensity foci in several regions on T2-weighted images. Electrophysiological and magnetic resonance imaging findings suggested an involvement of the white matter of the central nervous system in this patient that was not reflected in the clinical findings.
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PMID:Patient with Kearns-Sayre syndrome exhibiting abnormal magnetic resonance image of the brain. 985 14

The cardinal eye manifestations of mtDNA diseases are ophthalmoplegia, optic neuropathy, and pigmentary retinopathy. A number of other eye structures may also be affected in these disorders and the ophthalmologist is in a unique position to detect and interpret these findings. The presence of these ophthalmologic manifestations may be the first clue that the patient has an underlying mitochondrial disease with the eye as the initial or most prominently affected organ. The phenotypic manifestations of mitochondrial disease are protean and variable, and there are no clear-cut, minimal features that define these disorders. The possibility of a mitochondrial disorder should be raised when any of the mitochondrial eye manifestations (Table 1) are present, either alone or in concert with the neurological and systemic (Table 2) manifestations of mitochondrial disease. A maternal family history of an ophthalmologic, neurological, or systemic illness is also compatible with a mitochondrial disorder. The ophthalmologist should not loose sight of the fact that mitochondrial disorders have systemic manifestations and implications, even when the primary manifestations are ocular. Detection of and proactive intervention into comorbid features (eg, diabetes mellitus, hearing loss, heart block) is an important component.
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PMID:The ophthalmologic manifestations of mitochondrial disease. 1016 Feb 16

Congenital glaucoma and insulin-dependent diabetes mellitus were the predominant presenting signs in a patient with Kearns-Sayre syndrome. Thereafter, he developed short stature, pigmentary retinopathy, progressive external ophthalmoplegia, and ataxia. The diagnosis was confirmed by detecting a deletion of mitochondrial DNA in muscle, thus demonstrating that Kearns-Sayre syndrome can have the unusual presenting signs described above.
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PMID:Unusual presentation of Kearns-Sayre syndrome in early childhood. 1059 76

A patient with 2-oxoadipic aciduria and 2-aminoadipic aciduria presented at 2 years of age with manifestations typical of organic acidemia, episodes of ketosis and acidosis, progressive to coma. This resolved and the key metabolites disappeared from the urine and blood. At 9 years of age she developed typical Kearns-Sayre syndrome with complete heart block, retinopathy, and ophthalmoplegia. Southern blot revealed a deletion in the mitochondrial genome.
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PMID:Kearns-Sayre syndrome presenting as 2-oxoadipic aciduria. 1065 59

Although swallowing difficulties have been described in patients with Kearns-Sayre syndrome (KSS), the spectrum of manometric characteristics of dysphagia is not yet well known. Moreover, it is conceivable that a combination of various degrees of swallowing difficulties with different patterns in manometric studies exist, each playing a major role in the prognosis, natural history, and quality of life of KSS patients. An 18-year-old girl diagnosed at the age of 5 years with KSS (muscle biopsy) was admitted to our department with an upper respiratory tract infection and dysphagia. Clinical examination revealed growth retardation, external ophthalmoplegia, pigmentary retinopathy, impaired hearing, and ataxia. An electrocardiogram revealed cardiac conduction defects (long Q-T), and brain magnetic resonance imaging showed abnormalities in the cerebellar hemispheres. A manometric and motility study for dysphagia was conducted and the pharynx and upper esophageal sphincter (UES) resting pressures were similar to control group values, but the swallowing peak contraction pressure of the pharynx and the closing pressure of the UES were very low and could not promote effective peristaltic waves. Relaxation and coordination of the UES were not affected although pharyngeal and upper esophagus peristaltic waves proved to be very low and, consequently, were practically ineffective. The patient was started on treatment comprising a diet rich in potassium, magnesium, and calcium, and oral administration of vitamin D and co-enzyme Q10 100 mg daily; she was discharged 6 days later with apparent clinical improvement.
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PMID:Manometric study in Kearns-Sayre syndrome. 1142 10

The Kearns-Sayre (K-S) syndrome which includes the triad of progressive external ophthalmoplegia, pigment retinopathy, and disorder of cardiac conduction was first described in 1958. The mitochondria disorder is believed to be the cause of this syndrome. Involvement of the cardiac conduction system is the most importent prognostic factor in K-S syndrome. A 34-year-old male K-S syndrome patient, manifesting as ptosis and weakness of limbs since the age of 15 years, suffered from dizziness and weakness. Twelve-lead eletrocardiography (ECG) showed a 2:1 atrioventricular (AV) block with slow ventricular rate. Intermittent complete AV block, complete left bundle branch block and torsades de pointes were noted in Holter ECG. The electrophysiology study demonstrated prolonged HV interval (85 ms) on conduction beat and infra-His block on non-conduction beat. A VVIR mode of permanent pacemaker was implanted and the patient's condition was stable during this period of follow-up.
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PMID:Atrioventricular block in Kearns-Sayre syndrome: a case report. 1155 73

The afferent and efferent visual pathways within the central nervous system are frequently involved in mitochondrial diseases. Neuro-ophthalmic signs figure prominently and may be the presenting or even sole manifestation of these disorders. The four most common neuro-ophthalmic abnormalities seen in mitochondrial disorders are bilateral optic neuropathy, ophthalmoplegia with ptosis, pigmentary retinopathy, and retrochiasmal visual loss.
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PMID:Neuro-ophthalmology of mitochondrial diseases. 1164 18


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