Posterior Cortical Atrophy: Review of the Recent Literature

Posterior cortical atrophy (PCA) is a group of neurodegenerative dementing disorders characterized by initial predominant visual complaints followed by progressive decline in cognitive functions. The visuospatial and visuoperceptual defects arise from the dysfunction of, respectively, the dorsal (occipito-parietal) and the ventral (occipito-temporal) streams. Clinical symptoms, results of neuropsychological examination, and findings of posterior cerebral atrophy and/or posterior hypoperfusion/hypometabolism contribute to the diagnosis. However, owing to the insidious onset of PCA and the non-specificity of initial symptoms, the diagnosis is often delayed. Specific etiologies include Alzheimer's disease, dementia with Lewy bodies, subcortical gliosis, corticobasal degeneration, and prion-associated diseases. Alzheimer's disease accounts for at least 80% of PCA cases. Recent research has concentrated on better defining the clinical presentation of PCA, improving neuroimaging analysis, testing new neuroimaging techniques, and developing biological measurements. Selected recent papers on PCA are reviewed in this articl

Unsatisfactory outcomes in myasthenia gravis: influence by care providers

Myasthenia gravis (MG) can be difficult to treat despite an available therapeutic armamentarium. Our aim was to analyze the factors leading to unsatisfactory outcome (UO). To this end we used the Myasthenia Gravis Foundation of America classification system. Forty one patients with autoimmune MG were followed prospectively from January 2003 to December 2007. Outcomes were assessed throughout follow-up and at a final visit. ‘Unchanged', ‘worse', ‘exacerbation' and ‘died of MG' post-intervention status were considered UOs. During follow-up, UO rates reached 54% and were related to undertreatment (41%), poor treatment compliance (23%), infections (23%), and adverse drug effects (13%). The UO rate at final study assessment was 20%. UO during follow-up was significantly (P=0.004) predictive of UOs at final assessment. When care was provided by neuromuscular (NM) specialists, patients had significantly better follow-up scores (P=0.01). At final assessment UO rates were 7% and significantly better in patients treated by NM specialists, compared to other physicians where UO rates reached 27%. UO was a frequent finding occurring in more than half our patients during follow-up. Nearly two-thirds of the UOs could have been prevented by appropriate therapeutic adjustments and improved compliance. The differential UO rates at follow-up, their dependency on the degree to which the management was specialized and their correlation with final outcomes suggest that specialized MG care improves outcome

Spectrum of digoxin-induced ocular toxicity: a case report and literature review

BACKGROUND: Digoxin intoxication results in predominantly digestive, cardiac and neurological symptoms. This case is outstanding in that the intoxication occurred in a nonagenarian and induced severe, extensively documented visual symptoms as well as dysphagia and proprioceptive illusions. Moreover, it went undiagnosed for a whole month despite close medical follow-up, illustrating the difficulty in recognizing drug-induced effects in a polymorbid patient. CASE PRESENTATION: Digoxin 0.25 mg qd for atrial fibrillation was prescribed to a 91-year-old woman with an estimated creatinine clearance of 18 ml/min. Over the following 2-3 weeks she developed nausea, vomiting and dysphagia, snowy and blurry vision, photopsia, dyschromatopsia, aggravated pre-existing formed visual hallucinations and proprioceptive illusions. She saw her family doctor twice and visited the eye clinic once until, 1 month after starting digoxin, she was admitted to the emergency room. Intoxication was confirmed by a serum digoxin level of 5.7 ng/ml (reference range 0.8-2 ng/ml). After stopping digoxin, general symptoms resolved in a few days, but visual complaints persisted. Examination by the ophthalmologist revealed decreased visual acuity in both eyes, 4/10 in the right eye (OD) and 5/10 in the left eye (OS), decreased color vision as demonstrated by a score of 1/13 in both eyes (OU) on Ishihara pseudoisochromatic plates, OS cataract, and dry age-related macular degeneration (ARMD). Computerized static perimetry showed non-specific diffuse alterations suggestive of either bilateral retinopathy or optic neuropathy. Full-field electroretinography (ERG) disclosed moderate diffuse rod and cone dysfunction and multifocal ERG revealed central loss of function OU. Visual symptoms progressively improved over the next 2 months, but multifocal ERG did not. The patient was finally discharged home after a 5 week hospital stay. CONCLUSION: This case is a reminder of a complication of digoxin treatment to be considered by any treating physician. If digoxin is prescribed in a vulnerable patient, close monitoring is mandatory. In general, when facing a new health problem in a polymorbid patient, it is crucial to elicit a complete history, with all recent drug changes and detailed complaints, and to include a drug adverse reaction in the differential diagnosis

Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene

Purpose: To identify the genetic defect, and to phenotype, three consanguineous Tunisian families presenting with early-onset retinal degeneration (EORD). Methods: All accessible family members were included. They underwent blood sampling and ophthalmological examination including, when possible, full-field ERG and pupillometry. A genome-wide linkage analysis was initiated. Mutation analysis of the RPE65 gene within the linked interval was performed by bi-directional sequencing. Results: Eleven out of 53 examined members were clinically affected with an EORD. Linkage analysis revealed a maximal lod score of 4.02 (θ=0.1) for the marker D1S207 on 1p31. Mutational screening of the RPE65 gene identified a homozygous R91W mutation co-segregating with the disease in all affected individuals. Eleven homozygotes had nystagmus and acuities ranging from CF to NLP. Two retinal patterns were identified: pattern 1 presented mid-peripheral deep white dot deposits and virtually no clumped pigmentation, whereas pattern 2 showed mid-peripheral pigmented clumps without any white deposits. Homozygotes had no detectable full-field ERG and an abnormal pupillary light reflex. Eleven heterozygotes had normal visual function. Conclusion: We identified and characterised an endemic form of early onset rod-cone dystrophy in a consanguineous population from northeastern Tunisia, due to the prevalence of a single RPE65 mutation. Two funduscopic patterns were identified: white dot deposits in earlier stages and clumped pigment in later stage

Vessel Imaging for the Diagnosis of Giant Cell Arteritis (PDF)

Giant cell arteritis (GCA) is the most frequent vasculitis in patients aged 50 and above, affecting largeand medium-sized arteries. GCA has a predilection for the extracranial branches of the carotid arteries and visual loss is the most feared complication of GCA. Recent studies demonstrated that up to 70% of GCA patients present also involvement of other arterial territories (aorta, vertebral, axillary, subclavian, iliofemoral, renal, mesenteric arteries).1-6 Visual loss results most frequently from ocular ischemia, whereas cerebral ischemia is rare. Ocular ischemic events result from an occlusive arteritis of the ophthalmic artery and/or its branches (central retinal artery, short and long posterior ciliary arteries, anterior ciliary arteries). Arteritic anterior ischemic optic neuropathy (AAION) is the most common presentation of visual loss in GCA, accounting for > 80% of cases

Vessel Imaging for the Diagnosis of Giant Cell Arteritis (Slides)

Giant cell arteritis (GCA) is the most frequent vasculitis in patients aged 50 and above, affecting largeand medium-sized arteries. GCA has a predilection for the extracranial branches of the carotid arteries and visual loss is the most feared complication of GCA. Recent studies demonstrated that up to 70% of GCA patients present also involvement of other arterial territories (aorta, vertebral, axillary, subclavian, iliofemoral, renal, mesenteric arteries).1-6 Visual loss results most frequently from ocular ischemia, whereas cerebral ischemia is rare. Ocular ischemic events result from an occlusive arteritis of the ophthalmic artery and/or its branches (central retinal artery, short and long posterior ciliary arteries, anterior ciliary arteries). Arteritic anterior ischemic optic neuropathy (AAION) is the most common presentation of visual loss in GCA, accounting for > 80% of cases

Docteur, je vois double …

La diplopie est un symptôme relativement fréquent, dont les causes sont variées. Certaines formes de diplopie sont bénignes alors que d’autres nécessitent une prise en charge urgente, pouvant même avoir un impact sur le pronostic vital. La connaissance des signes et symptômes suggestifs de pathologies potentiellement graves devrait permettre au médecin de premier recours d’orienter correctement les investigations