ABSTRACT
The discovery of autoantibodies targeting aquaporin-4 (AQP4) of astrocytes has improved the understanding and management of Neuromyelitis Optica Syndrome Disorders (NMO-SD), previously considered as a variant of multiple sclerosis. Later, the detection of MOG IgG1 antibodies, directed against an oligodendrocyte myelin glycoprotein, made it possible to distinguish pathologies with different clinical and prognostic particularities, then helping the clinician in his diagnostic and therapeutic approach. This clinical case aims to feature the clinical differences, prognosis and therapeutic solutions of these pathologies.
La découverte d'auto-anticorps ciblant l'aquaporine-4 (AQP4) des astrocytes a permis d'avancer dans la compréhension et la prise en charge du spectre des maladies de la neuromyélite optique (NMO-SD), antérieurement considérée comme une variante proche de la sclérose en plaques. Plus tard, la mise en évidence des anticorps MOG IgG1, dirigés contre une protéine de la myéline oligodendrocytaire, a permis de distinguer des pathologies avec des particularités cliniques et pronostiques différentes, pouvant aider le clinicien dans sa démarche diagnostique et thérapeutique. Ce cas clinique permet de détailler les différences cliniques et pronostiques ainsi que les solutions thérapeutiques de ces pathologies.
Subject(s)
Myelin-Oligodendrocyte Glycoprotein , Neuromyelitis Optica , Oligodendrocyte-Myelin Glycoprotein , Optic Nerve Diseases , Aquaporin 4 , Humans , Myelin-Oligodendrocyte Glycoprotein/immunology , Neuromyelitis Optica/immunology , Oligodendrocyte-Myelin Glycoprotein/immunologyABSTRACT
We report four cases of painful Horner's syndrome due to carotid artery dissection. A lesion on oculosympathic pathway causes Horner's syndrome. A painful Horner's syndrome needs a prompt exploration by tomodensitometry or magnetic resonance imaging to exclude carotid artery dissection. Actually, carotid artery dissection leads to stroke or cerebral ischemic symptoms, mainly in the first two weeks. The treatment is based on anticoagulants or antiplatelet agents.
Nous rapportons quatre cas de dissections carotidiennes suspectées par la présence d'un syndrome de Claude Bernard-Horner douloureux. Ce syndrome est dû à une lésion au niveau de la voie oculosympathique. Lorsqu'il est accompagné de douleurs, une exploration par tomodensitométrie avec injection de produit de contraste, ou mieux, par résonance magnétique, est nécessaire afin d'exclure une dissection carotidienne. Etant donné la possible apparition d'un accident vasculaire ischémique endéans les deux premières semaines, un diagnostic précoce ainsi qu'un traitement par antiagrégant plaquettaire ou par anticoagulant sont primordiaux.
Subject(s)
Carotid Artery, Internal, Dissection/diagnosis , Horner Syndrome/diagnosis , Pain/diagnosis , Aged , Carotid Artery, Internal, Dissection/complications , Diagnosis, Differential , Horner Syndrome/complications , Humans , Male , Middle Aged , Pain/complicationsABSTRACT
Vision loss is a major symptom in ophthalmology. We report a clinical observation of acute unilateral non ischemic optic neuropathy in a 55 year old patient to illustrate the diagnostic approach of vision loss occurring in a white eye. Several algorithms are proposed to facilitate the diagnostic approach.
Résumé : La perte d'acuité visuelle est un symptôme majeur en ophtalmologie. Nous rapportons le cas d'une neuropathie optique aiguë unilatérale non ischémique survenant chez une patiente de 55 ans. Ce cas clinique permet d'illustrer la démarche diagnostique devant une chute d'acuité visuelle survenant avec un Åil blanc. Plusieurs algorithmes sont fournis pour faciliter l'approche diagnostique.
Subject(s)
Vision Disorders/diagnosis , Humans , Middle Aged , Optic Neuropathy, IschemicABSTRACT
"Pseudotumor cerebri" generally refers to a syndrome associating signs and symptoms of intracranial hypertension, increased cerebrospinal fluid (CSF) pressure and normal CSF composition, without any identifiable intracranial abnormality, particularly by neuroimaging studies. Although the "idiopathic" variant of the syndrome is most common, there are secondary forms where a cause can be found. The term "benign intracranial hypertension" should be abandoned, since permanent visual impairment can complicate the condition. This disaster can be avoided by early recognition and medical or surgical treatment of the disease. This article discusses the terminology, as well as diagnostic and therapeutic aspects of the syndrome.
Subject(s)
Pseudotumor Cerebri/diagnosis , Pseudotumor Cerebri/therapy , HumansABSTRACT
We report the case of a young patient who was seen at the outpatient clinic for recurring vertigo. The diagnosis was vestibular migraine. Considering the long delay between the onset of symptoms and the definite diagnosis, we found it appropriate to review the diagnostic workup in such cases which is multidisciplinary, implying otologists, ophtalmologists and neurologists.We take also the opportunity to review the diagnosis and treatment of less known, more recently described disorders such as vestibular migraine, perilymph fistula, vestibular paroxysmia and bilateral vestibulopathy.
Subject(s)
Migraine Disorders/diagnosis , Vertigo/diagnosis , Vestibular Diseases/diagnosis , Adolescent , Humans , Interdisciplinary Communication , Male , Migraine Disorders/complications , Recurrence , Vertigo/etiology , Vestibular Diseases/complicationsABSTRACT
PURPOSE: Third cranial nerve palsies are unfrequent in childhood and adolescence and are most often congenital. The association of sellar germ cell tumor and ophthalmoplegia is considered as being very rare at this age. CASE REPORT: A 11-year-old young girl was examined in emergency with a third left cranial nerve partial palsy associated with one- year duration history of hypopituitarism with insipid diabetes and growth retardation. Cerebral IRM revealed a tumor of the pituitary gland. In histopathological examination of pituitary gland biopsies, lesions were compatibles with a sellar germ cell tumor. CONCLUSION: Although they are most often of a congenital nature, third cranial nerve palsies in childhood may be secondary to other causes that should be always taken in mind. When they are secondary to a sellar tumor and according to the clinical presentation and the IRM, the histopahological examination of biopsies is mandatory to have a precise diagnosis.
Subject(s)
Neoplasms, Germ Cell and Embryonal/complications , Neoplasms, Germ Cell and Embryonal/diagnosis , Oculomotor Nerve Diseases/etiology , Ophthalmoplegia/etiology , Pituitary Neoplasms/diagnosis , Sella Turcica , Skull Neoplasms/diagnosis , Child , Female , Humans , Neoplasms, Germ Cell and Embryonal/pathology , Pituitary Neoplasms/complications , Skull Neoplasms/complications , Skull Neoplasms/pathologyABSTRACT
Eye movements abnormalities are common symptoms in neurology. We report a clinical observation of ischemic unilateral internuclear ophtalmoplegia to illustrate how much anatomical diagnosis is based on 1) a detailed neurological examination and 2) a deep knowledge and understanding of the anatomy and physiology of ocular movements. We also take this opportunity to review ocular symptoms and signs encountered in neurological practice.
Subject(s)
Brain Ischemia/diagnosis , Ocular Motility Disorders/etiology , Brain Ischemia/etiology , Diagnosis, Differential , Humans , Male , Middle Aged , Neurologic Examination , Ocular Motility Disorders/diagnosis , Vascular Diseases/complicationsABSTRACT
The authors describe the four patients in the first known Belgian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). A novel homozygous missense mutation, NM_014363.3: c.3491T>A in exon 9, of the SACS gene was identified in the present family, which results in an original amino acid of methionine to lysine substitution at amino acid residue 1164 (p.M1164K). Although the cardinal clinical features, i.e., spastic ataxia with peripheral neuropathy, in our patients were similar to those in Quebec patients, our patients exhibited some atypical clinical features, e.g., teenage-onset and absence of retinal hypermyelination. The present family is from Wallonia, and there could be shared ethnicity with the families of Charlevoix-Saguenay.
Subject(s)
Ataxia/genetics , Chromosome Disorders/genetics , Genes, Recessive/genetics , Genetic Predisposition to Disease/genetics , Heat-Shock Proteins/genetics , Mutation/genetics , Adult , Age of Onset , Amino Acid Substitution/genetics , Ataxia/metabolism , Ataxia/physiopathology , Belgium/ethnology , Chromosome Disorders/metabolism , Chromosome Disorders/physiopathology , DNA Mutational Analysis , Female , Genetic Markers/genetics , Genetic Testing , Genotype , Humans , Male , Mutation, Missense/genetics , Pedigree , Peripheral Nervous System Diseases/genetics , Peripheral Nervous System Diseases/metabolism , Peripheral Nervous System Diseases/physiopathology , Quebec/ethnology , Retinal Degeneration/genetics , Retinal Degeneration/metabolism , Retinal Degeneration/physiopathology , SyndromeABSTRACT
Bilateral optic neuropathy in a young man is suggestive of hereditary or toxic damage. We describe the case of a 38-year-old man with bilateral optic neuropathy. His best corrected visual acuity was light perception OD and 20/125 OS. The patient's history revealed an addiction to heroin. Three drugs - heroin, quinine, and cocaine - were considered as a possible cause, which is discussed further. We suggest that the condition reported here may be attributed to the use of heroin. This underlines the importance of meticulous history taking in diagnosing a young man with bilateral loss of vision.
Subject(s)
Heroin Dependence/complications , Optic Atrophy/chemically induced , Adult , Humans , Male , Vision Disorders/chemically induced , Visual Acuity/drug effectsABSTRACT
We described two cases with papilledema within the first months of amiodarone treatment. The particular aspects of these cases are, on one hand the development of the optic neuropathy before any toxic change of the cornea and on the other hand the daily and weekly doses prescribed in both cases. We reviewed the meta-analysis studies on the subject and the different pathogenic mechanisms described until now.
Subject(s)
Amiodarone/adverse effects , Anti-Arrhythmia Agents/adverse effects , Papilledema/chemically induced , Aged , Humans , MaleABSTRACT
Thyroid ophthalmopathy is frequently missed at the beginning; most of them are minor and don't need any treatment. The severe and active ophthalmopathies only need to be cured. The well-established therapeutics are currently corticosteroids and orbital radiotherapy. Associating their use maximizes their respective effects.
Subject(s)
Diagnostic Errors , Eye Diseases/diagnosis , Graves Disease/diagnosis , Adult , Diagnosis, Differential , Eye Diseases/pathology , Female , Graves Disease/pathology , Hemorrhage , Humans , Magnetic Resonance ImagingABSTRACT
This cross-sectional study investigated the relationship between different lighting conditions experienced during sleep in the first -two years of life and development of myopia after age two as reported retrospectively by parents in a total of 469 individuals, including 252 children aged 2-16 yr., and 217 adults aged 17-40 yr. There were no significant differences in incidence of myopia in children who had slept from 0-2 yr. in darkness, with a night light, room light, or hall light. Adults who were reported by their parents to have slept with a night light on from 0-2 yr. were significantly more likely to be myopic than those who were reported to have slept from 0-2 yr. in any other lighting condition.
Subject(s)
Circadian Rhythm/physiology , Light , Myopia/diagnosis , Sleep/physiology , Adolescent , Adult , Child , Child, Preschool , Cross-Sectional Studies , Female , Humans , Male , Severity of Illness IndexABSTRACT
This paper describes two cases of unilateral exophtalmos and reviews the diagnostic and therapeutic approach to this clinical entity.
Subject(s)
Exophthalmos/etiology , Granuloma, Plasma Cell/complications , Granuloma, Plasma Cell/diagnosis , Meningioma/complications , Meningioma/diagnosis , Orbital Diseases/complications , Orbital Diseases/diagnosis , Orbital Neoplasms/complications , Orbital Neoplasms/diagnosis , Diagnosis, Differential , Female , Granuloma, Plasma Cell/therapy , Humans , Magnetic Resonance Imaging , Male , Meningioma/surgery , Middle Aged , Orbital Diseases/therapy , Orbital Neoplasms/surgery , Tomography, X-Ray ComputedABSTRACT
This study compared the sensory status of 23 patients (19 children and 4 adults) before and after treatment with total hypermetropic correction. We have shown that binocular improvement can be obtained in every category of strabismological pathology, including exotropia, with the exception of early onset micro-strabismus. Three cases of late onset micro-strabismus (one divergent and two convergent) where total sensory cure was obtained are also described. We confirm the slow clinical progression of hypermetropia in the strabismic patient provided with total optical correction. The two examples reported, as well as our cursory review of recent literature, provide justification for the early, systematic prescription of total optical correction for strongly hypermetropic children (> 4 D).
