Search results for "Ophthalmoplegia"

A new method to investigate brain stem structural-functional correlations using digital post-processing MRI - reliability in ischemic internuclear op…

2001

We investigated the reliability of a new digital post-processing magnetic resonance imaging (MRI) technique in ischemic brain stem lesions to identify relations of the lesion to anatomical brain stem structures. The target was a medial longitudinal fasciculus (MLF) lesion, which was evident from ipsilateral internuclear ophthalmoplegia (INO). Sixteen patients with acute unilateral INO and an isolated acute brain stem lesion in T2- and EPI-diffusion weighted MRI within 2 days after the onset of symptoms were studied. The MRI slice direction was parallel and perpendicular to a slice selection of a stereotactic anatomical atlas. The individual slices were normalized and projected in the digita…

Acquired monocular elevation paresis. An asymmetric upgaze palsy.

1992

Five patients with acquired monocular elevation paresis were investigated using direct current electrooculography. With recovery, upward saccade velocities significantly increased in both eyes in all patients. The gain of upward-following eye movements significantly increased in the paretic eye of all patients and in the opposite eye of four patients. These findings are interpreted in terms of an asymmetric upgaze palsy which clinically presented as monocular elevation paresis in the more severely affected eye. A brainstem lesion contralateral to monocular elevation paresis was suggested in four patients by contralateral Horner's syndrome and contralateral abduction paresis, each in one pat…

Abduction nystagmus in internuclear ophthalmoplegia

1992

Direct current electro-oculography revealed abduction nystagmus with hypermetric abduction saccades in 35 of 64 patients with unilateral and 55 of 66 patients with bilateral internuclear ophthalmoplegia. Slowing of abduction saccades occurred in 27 unilateral cases, mainly ipsilateral to the paretic eye, and in 36 bilateral cases. Abduction nystagmus with hypermetric abduction saccades of normal velocity is explained by an increased phasic innervation adjusted to adduction paresis. Slowed abduction saccades are attributed to impaired inhibition of the medial rectus muscle. Superposition of impaired medial rectus inhibition and increased phasic innervation best explains abduction nystagmus w…

Bickerstaff brainstem encephalitis. A case report

1992

A 33-year-old woman three weeks after a febrile illness presented with a syndrome of ophthalmoplegia, ataxia and areflexia (SOAA) that characterizes clinically both Bickerstaff and Miller Fisher syndromes. The normality of the electrophysiological tests performed, the CSF findings and the magnetic resonance images proved that the syndrome stemmed from brainstem pathology.

Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene

2022

Abstract Background Arthrogryposis multiplex congenita (AMC) is a group of clinically and etiologically heterogeneous conditions, characterized by prenatal onset contractures affecting two or more joints. Its incidence is about 1 in 3000 live births. AMC may be distinguished into amyoplasia, distal and syndromic arthrogryposis. Distal arthrogryposis (DA) predominantly affects hands and feet. It is currently divided into more than ten subtypes (DA1, DA2A/B, DA3–10), based on clinical manifestations, gene mutations and inheritance pattern. Among them, only a few patients with DA5 have been reported. It is associated to a gain-of-function pathogenic variant of the PIEZO2 gene, encoding for an …

Bilateral ptosis and internuclear ophthalmoplegia in a case of bilateral thalamic and midbrain Infarct.

2008

Síndrome de Horner como manifestación de disección carotídea

2011

Caso Clínico: Un varón de 42 años se presenta con ptosis y miosis izquierda después de una historia de cefalea homolateral de 20 días de evolución, que empeora progresivamente durante los últimos días. Una angioresonancia revela disección de la arteria carótida interna. Discusión: El «síndrome de Horner doloroso» destaca como una urgencia médica por posible manifestación de una disección carotídea. Consideramos que el perfecto conocimiento de las urgencias neurooftalmológicas es de gran necesidad para el médico oftalmólogo y que estas requieren una atención multidisciplinaria para asegurar un seguimiento y tratamiento adecuado. Clinical Case: A 42-year-old man presented with ptosis and mios…

Chronic progressive external ophthalmoplegia with a novel mitochondrial DNA deletion and a mutation in the tRNALEU(UUR) gene

1999

Large-scale deletions and point mutations of the mitochondrial DNA are generally accepted as being involved in the pathogenesis of diseases associated with mitochondrial encephalomyopathies such as Kearns-Sayre syndrome and chronic progressive external ophthalmoplegia (CPEO). We screened suspected patients using polymerase chain reaction techniques, Southern blot analyses, and muscle biopsy specimens. We report on a novel 4,953-base pair deletion associated with a familial occurrence of a tRNA Leu(UUR) T3250C point mutation in a young female patient clinically diagnosed with CPEO. This deletion is not flanked by direct repeats, so slip replication and homologous recombination do not seem li…

Isolated superior oblique palsies with brainstem lesions

1999

Article abstract Isolated unilateral superior oblique palsies resulting from brainstem lesions occurred in three patients. MRI documented contralateral tegmental lesions of the trochlear nucleus and adjacent intraaxial trochlear nerve. Lacunar infarct was the cause in two patients and a small hemorrhage in a third.

A new mitochondrial point mutation in the transfer RNALys gene associated with progressive external ophthalmoplegia with impaired respiratory regulat…

2011

Abstract We report a novel heteroplasmic point mutation G8299A in the gene for mitochondrial tRNA Lys in a patient with progressive external ophthalmoplegia complicated by recurrent respiratory insufficiency. Biochemical analysis of respiratory chain complexes in muscle homogenate showed a combined complex I and IV deficiency. The transition does not represent a known neutral polymorphism and affects a position in the tRNA acceptor stem which is conserved in primates, leading to a destabilization of this functionally important domain. In vitro analysis of an essential maturation step of the tRNA transcript indicates the probable pathogenicity of this mutation. We hypothesize that there is a…