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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Acquired isolated ophthalmoplegia in childhood has many potential causes. Although other ophthalmological or clinical features may aid lesion localisation, the absence of these does not preclude structural pathology. Two cases of cavernous sinus pseudotumour presented as ophthalmoplegia with and without pain. Magnetic resonance imaging of the cavernous sinus revealed the presence of enhancing tissue consistent in appearance with pseudotumour in both cases, and they responded well to steroid treatment. These cases emphasise the importance of detailed imaging of the cavernous sinus in the investigation of these symptoms in order to exclude this treatable condition.
Arch Dis Child 1996 Sep
PMID:Painful and painless ophthalmoplegia with cavernous sinus pseudotumour. 897 66

The cranial nerves, due to its location, are not infrequently involved in the nasopharyngeal neoplasm evolutionary course. In this paper we describe two cases in which the neoplastic infiltration in both cavernous sinuses brought the appearance of an acute bilateral ophthalmolegia on. This symptomatology meant, in the first case, the onset of disease. In the second one, it was the reason of consultation. Later we discuss the topographic location of the damages in both cavernous sinuses considering the observed neurological shortcomings. Finally we approach a short revision of the causes of bilateral ophthalmoplegia found in literature, as well as an evaluation of different radiological diagnosis methods for this kind of damages.
An Med Interna 1996 Sep
PMID:[Acute bilateral ophthalmoplegia and nasopharyngeal neoplasms]. 913 36

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.
Am J Med Genet 1997 Sep 05
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.
Am J Med Genet 1997 Sep 05
PMID:High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heart. 928 53

A 53-year-old woman developed bulbar palsy, spastic quadriplegia, amyotrophy, and supranuclear ophthalmoplegia, and thereafter her condition was managed with mechanical ventilation for 1 year. Her total clinical course was 6 years. The autopsy examination revealed neuronal loss with reactive astrocytosis in the precentral cortex, thalamus, mammillary body, amygdala, putamen, globus pallidus, subthalamic nucleus, and the substantia nigra, in addition to degeneration of lower motor neurons, some of which contained Bunina bodies. Along the corticospinal tract, there were severe axonal loss and numerous axonal spheroids, which were positive for phosphorylated neurofilament, ubiquitin, and synaptophysin, and lipid-laden macrophages in the centrum semiovale to the crus cerebri. Ballooned neurons, which were positive for phosphorylated neurofilament, were occasionally seen in the frontal cortex. Although in the common form of amyotrophic lateral sclerosis (ALS) both upper and lower motor neurons are mainly involved, the corticospinal tract degeneration cannot be traced rostral to the pons. The noteworthy features in our patient were the precentral cortical degeneration and axonal spheroids in the corticospinal tract rostral to the pons. It remains unclear why axonal spheroids in the corticospinal tract and precentral cortical degeneration are not observed in most ALS cases. Whether their development depends on the clinical duration, mechanical ventilator management, or some other factors remains an open question.
Acta Neuropathol 1997 Sep
PMID:Amyotrophic lateral sclerosis with numerous axonal spheroids in the corticospinal tract and massive degeneration of the cortex. 929 1

Cutaneous carcinomas of the face, and some nasopharyngeal carcinomas, may present with facial dysesthesias and/or facial nerve palsies in the absence of visible masses. Even with frank ophthalmoplegia, occult tumors that present in this matter may elude detection, for which reason specific diagnostic studies must be employed. We report seven cases of trigeminal nerve infiltration by occult tumors (five squamous cell carcinomas, one basal cell carcinoma, and one adenoid cystic carcinoma), and outline the clinical course, diagnostic investigations, and the subsequent management of these patients. The importance of establishing an early diagnosis before the tumor has transgressed the basal foramina is emphasized, as tumor infiltration of the cavernous sinus carries a more guarded prognosis. The use of magnetic resonance imaging to identify involved peripheral nerve branches that may then be biopsied is suggested. The patho-physiological mechanisms of neurotropic spread of tumor are reviewed.
J Neuroophthalmol 1997 Sep
PMID:Occult perineural tumor infiltration of the trigeminal nerve. Diagnostic considerations. 930 29

We measured oxygen consumption in the exercising lower limb by using noninvasive tissue oximetry with the near-infrared spectra of hemoglobin in the quadriceps muscle during bicycle ergometer exercise in four normal controls and three patients with chronic progressive external ophthalmoplegia (CPEO) as well as one patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). Normal controls showed constant oxygenation during exercise and a rapid recovery after exercise. However, all four patients with mitochondrial myopathy showed abnormal oxygenation during exercise and a slow recovery afterward. The results reflected the defect in oxidative phosphorylation and the impairment in oxygen utilization in those patients. The distinctive patterns of imbalance between oxygen delivery and utilization correlated well with the severity of mitochondrial myopathy as judged by the sum of the serum lactate and pyruvate content during exercise. Noninvasive tissue oximetry may be useful to measure the severity of myopathy and exercise intolerance in patients with mitochondrial myopathy.
Neurology 1997 Sep
PMID:Measurement of tissue oxygen consumption in patients with mitochondrial myopathy by noninvasive tissue oximetry. 978 91

Three newborn siblings presented with generalized weakness, asphyxia, facial diplegia, and external ophthalmoplegia. Electrophysiological testing showed inexcitability of motor and sensory nerves and myographic signs of denervation. Nerve biopsies and postmortem examination showed loss of myelinated fibers and axonal damage in sensory and mixed nerves. Many spinal motor neurons were chromatolytic although their number was normal. Molecular genetic investigations revealed a homozygous deletion of the survival motor neuron (SMN) gene and a loss of markers Ag1-CA and C212 in the paternal haplotype. These findings are consistent with the diagnosis of an unusually severe type of spinal muscular atrophy. Given the large extent of the deletion, it must be considered that the unusual severe phenotype with involvement of brainstem nuclei and afferent nerves might also be due to changes of yet unknown genes neighboring the SMN gene.
Ann Neurol 1997 Sep
PMID:Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region. 930 59

The mitochondrial function in skeletal muscle biopsies of three patients with chronic progressive external ophthalmoplegia, having deletions of the mitochondrial DNA, was studied by laser-excited fluorescence measurements of NAD(P)H and flavoproteins in saponin-skinned fibers. We detected substantially elevated steady state redox states of the mitochondrial NAD-system in the muscle fibers of these patients. Moreover, the respiratory chain-linked autofluorescence changes in the muscle fibers of these patients were larger in comparison to controls indicating substantial alterations of the mitochondrial content. These results are in line with the presence of elevated numbers of partially respiratory chain inhibited mitochondria in the skeletal muscle of chronic progressive external ophthalmoplegia patients.
Mol Cell Biochem 1997 Sep
PMID:Detection of mitochondrial defects by laser fluorimetry. 930 72

Nineteen patients (9 females, 10 males) with mitochondrial encephalomyopathies (ME) were studied. The diagnosis was established according to clinical and histopathological criteria. Leading clinical features were chronic progressive external ophthalmoplegia (CPEO) and muscle weakness in 95% of the patients. Pigmentary retinopathy was seen in 63%, and was always associated with CPEO. Hypacusis was present in 47% and cerebellar ataxia in 63% of patients. Clinical or electrophysiological signs of involvement of the central nervous system (CNS) were found in 21% of the patients. In muscle biopsy ragged red fibers were the predominant histopathological findings (100% of the patients), while COX-negative fibers were seen in 74%, deletions of the mitochondrial DNA in 42%, and defects of the respiratory chain in 32% of the patients. Increased blood lactate levels were found in 79% of the patients. Needle electromyography revealed myopathic features in 74%, features of denervation in 16%, and was normal in the remainder. Imaging studies showed cerebral atrophy in 58%, cerebellar atrophy in 16%, and hyperintense lesions of the white matter, pyramidal tract or extrapyramidal system in 16% of the cases. It is concluded that the clinical manifestations of ME can be very variable. Diagnosis of ME should be always considered in young patients presenting with CPEO and muscle weakness. In most cases, diagnosis can be made by a few selected investigations, while detection of genetic abnormalities may lead to the diagnosis in the remaining cases.
Mol Cell Biochem 1997 Sep
PMID:Clinical, morphological, biochemical, and neuroradiological features of mitochondrial encephalomyopathies. Presentation of 19 patients. 930 3


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