نتایج جستجو برای: ophthalmoparesis
تعداد نتایج: 130 فیلتر نتایج به سال:
We report on a novel frameshift mutation in the mtDNA gene encoding cytochrome c oxidase (COX) subunit III. The proband is an 11-year-old girl with a negative family history and an apparently healthy younger brother. Since 4 years of age, she has developed a progressive spastic paraparesis associated with ophthalmoparesis and moderate mental retardation. The presence of severe lactic acidosis a...
Congenital myasthenic syndromes are a heterogeneous group of genetically determined disorders characterized by impaired neuromuscular transmission. They usually present from birth to childhood and are characterised by exercise induced weakness and fatigability. Genotype-phenotype correlations are difficult. However, in some patients particular phenotypic aspects may point towards a specific gen...
INTRODUCTION Myasthenia gravis is a neuromuscular junction post-synaptic autoimmune disorder. Myasthenic crisis is characterized by respiratory failure requiring mechanical ventilation. Takotsubo cardiomyopathy is a rare clinical syndrome defined as a profound but reversible left ventricular dysfunction in the absence of coronary artery disease. CASE PRESENTATION We report a unique case of a ...
OBJECTIVE Cavernous sinus hemangiomas (CSHs) are uncommon lesions and comprise fewer than 1% of all parasellar masses. Because of their location, propensity for profuse bleeding during surgery, and relationship to complex neurovascular structures, they are notoriously difficult to excise. CLINICAL PRESENTATION The authors describe their experience with seven cases of CSHs. Headache and visual...
Polymerase-γ (POLG) is a major human disease gene and may account for up to 25% of all mitochondrial diseases in the UK and in Italy. To date, >150 different pathogenic mutations have been described in POLG. Some mutations behave as both dominant and recessive alleles, but an autosomal recessive inheritance pattern is much more common. The most frequently detected pathogenic POLG mutation in th...
Dear Editor, We read with great interest the review article in Cephalalgia entitled ‘Ophthalmoplegic migraine: From questions to answers’ by Ambrosetto et al. (1). The authors pointed out that, in adult-onset recurrent painful ophthalmoplegic neuropathy (RPON, code 13.9 of ICHD-3 beta), the magnetic resonance imaging (MRI) finding shows no gadolinium enhancement or nerve thickening. We experien...
Pembrolizumab, an anti-PD 1 antibody, has been approved for the treatment of metastatic melanoma [1, 2], non-small cell lung carcinoma [3, 4], and head and neck cancers [5]; and is being investigated in other cancers. We describe a case of Pembrolizumab induced severe bulbar myopathy and respiratory failure with necrotizing myositis of the diaphragm. A 78-year-old man with BRAF wild-type metast...
Marie Carl Eugene, DO Daniel Kitei, DO David Silvers, MD SECTION 1 A 75-year-old woman presented in July 2007 with 2 months of oscillopsia when looking downward and horizontal diplopia during rapid rightward gaze. She reported 3 weeks of progressive clumsiness of the right limbs, weakness of the right leg, and an unsteady gait. She denied cognitive dysfunction, headache, bulbar or sensory sympt...
M itochondrial myopathies are often associated with point mutations in mitochondrial DNA (mtDNA), and are usually maternally inherited. However, they may also present as an isolated myopathy, often with ptosis and ophthalmoparesis, or with isolated exercise intolerance. In eight patients with exercise intolerance described by us in 1999, there was no evidence of maternal inheritance, muscle his...
Aims: To investigate a possible relationship between cerebellar glucose metabolism and recovery from ataxia in the first months of acute Wernicke–Korsakoff syndrome. Methods: Two cases of alcoholic Wernicke–Korsakoff syndrome were followed up with the clinical status and cerebral glucose metabolism over a 4and 9-month period. Results: Initially both patients showed severe ataxia and elevated ce...
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