RESUMO
BACKGROUND: Cervical dystonias have a variable presentation and underlying etiology, but collectively represent the most common form of focal dystonia. There are a number of known genetic forms of dystonia (DYT1-27); however the heterogeneity of disease presentation does not always make it easy to categorize the disease by phenotype-genotype comparison. CASE PRESENTATION: In this report, we describe a 53-year-old female who presented initially with hand tremor following a total hip arthroplasty. The patient developed a mixed hyperkinetic disorder consisting of chorea, dystonia affecting the upper extremities, dysarthria, and blepharospasm. Whole exome sequencing of the patient revealed a novel heterozygous missense variant (Chr11(GRCh38): g.26525644C > G; NM_031418.2(ANO3): c.702C > G; NP_113606.2. p.C234W) in exon 7 in the ANO3 gene. CONCLUSIONS: ANO3 encodes anoctamin-3, a Ca+2-dependent phospholipid scramblase expressed in striatal-neurons, that has been implicated in autosomal dominant craniocervical dystonia (Dystonia-24, DYT24, MIM# 615034). To date, only a handful of cases of DYT-24 have been described in the literature. The complex clinical presentation of the patient described includes hyperkinesias, complex motor movements, and vocal tics, which have not been reported in other patients with DYT24. This report highlights the utility of using clinical whole exome sequencing in patients with complex neurological phenotypes that would not normally fit a classical presentation of a defined genetic disease.
Assuntos
Blefarospasmo/genética , Canais de Cloreto/genética , Disartria/genética , Distonia/genética , Hipercinese/genética , Tiques/genética , Abdome/diagnóstico por imagem , Sequência de Aminoácidos , Anoctaminas , Blefarospasmo/complicações , Blefarospasmo/patologia , Disartria/complicações , Disartria/patologia , Distonia/complicações , Distonia/patologia , Eletrofisiologia , Éxons , Feminino , Heterozigoto , Humanos , Hipercinese/complicações , Hipercinese/patologia , Pessoa de Meia-Idade , Dados de Sequência Molecular , Mutação de Sentido Incorreto , Linhagem , Polimorfismo Genético , Alinhamento de Sequência , Tiques/complicações , Tiques/patologiaRESUMO
PURPOSE: To determine if routinely performed computed tomographic (CT) scanning in patients with aneurysmal subarachnoid hemorrhages (aSAHs) is sufficient to identify patients at high risk of vision loss due to Terson syndrome (TS). METHODS: Consecutive patients with a diagnosis of aSAH admitted to the neurologic intensive care unit of a regional referral hospital over a 3-year period were prospectively evaluated. Head CT scans performed in the emergency department were assessed for the presence of a "crescent sign" (evidence of significant subinternal limiting membrane hemorrhage). Dilated funduscopic examinations were performed by an ophthalmologist, masked to the results of the CT scan, to identify retinal and vitreous hemorrhages consistent with TS. Retinal hemorrhages were categorized according to size-those smaller than 2 mm in diameter were deemed low risk (lrTS) for vision loss and those larger than 2 mm in diameter were deemed high risk (hrTS) for vision loss. RESULTS: One hundred seventeen patients with aSAH were enrolled in the study. The overall incidence of TS was 24.9% (29 of 117 patients; 12 were bilateral). Compared to patients without TS, those with TS had a higher Fisher Hemorrhage Grade and a lower mean (±standard deviation) GCS score (8.66 ± 4.97 vs 12.09 ± 1.10; P < 0.001). The CT crescent sign was positive in 7 patients (6.0%), 6 (5.1%; 2 were bilateral) of whom were found to have hrTS. Of the 110 patients without a CT crescent sign, 88 (75.1%) patients did not have TS, 21 had lrTS, and 1 patient had hrTS in one eye. The CT crescent sign was highly sensitive (85.7%) and specific (99.1%) for diagnosing hrTS. CONCLUSION: The CT crescent sign is a highly sensitive and specific marker for hrTS. CT scanning may replace routine ophthalmologic examinations to identify patients at risk of vision loss due to aSAH.
Assuntos
Cegueira/diagnóstico , Hemorragia Retiniana/diagnóstico por imagem , Hemorragia Subaracnóidea/diagnóstico por imagem , Hemorragia Vítrea/diagnóstico por imagem , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Reprodutibilidade dos Testes , Medição de Risco , Sensibilidade e Especificidade , Tomografia Computadorizada por Raios XRESUMO
PURPOSE: To characterize the clinical phenotype of myelin oligodendrocyte glycoprotein antibody (MOG-IgG) optic neuritis. DESIGN: Observational case series. METHODS: Setting: Multicenter. Patient/Study Population: Subjects meeting inclusion criteria: (1) history of optic neuritis; (2) seropositivity (MOG-IgG binding index > 2.5); 87 MOG-IgG-seropositive patients with optic neuritis were included (Mayo Clinic, 76; other medical centers, 11). MOG-IgG was detected using full-length MOG-transfected live HEK293 cells in a clinically validated flow cytometry assay. MAIN OUTCOME MEASURES: Clinical and radiologic characteristics and visual outcomes. RESULTS: Fifty-seven percent were female and median age at onset was 31 (range 2-79) years. Median number of optic neuritis attacks was 3 (range 1-8), median follow-up 2.9 years (range 0.5-24 years), and annualized relapse rate 0.8. Average visual acuity (VA) at nadir of worst attack was count fingers. Average final VA was 20/30; for 5 patients (6%) it was ≤20/200 in either eye. Optic disc edema and pain each occurred in 86% of patients. Magnetic resonance imaging showed perineural enhancement in 50% and longitudinally extensive involvement in 80%. Twenty-six patients (30%) had recurrent optic neuritis without other neurologic symptoms, 10 (12%) had single optic neuritis, 14 (16%) had chronic relapsing inflammatory optic neuropathy, and 36 (41%) had optic neuritis with other neurologic symptoms (most neuromyelitis optica spectrum disorder-like phenotype or acute disseminated encephalomyelitis). Only 1 patient was diagnosed with MS (MOG-IgG-binding index 2.8; normal range ≤ 2.5). Persistent MOG-IgG seropositivity occurred in 61 of 62 (98%). A total of 61% received long-term immunosuppressant therapy. CONCLUSIONS: Manifestations of MOG-IgG-positive optic neuritis are diverse. Despite recurrent attacks with severe vision loss, the majority of patients have significant recovery and retain functional vision long-term.
Assuntos
Autoanticorpos/sangue , Imageamento por Ressonância Magnética , Glicoproteína Mielina-Oligodendrócito/imunologia , Neurite Óptica/diagnóstico por imagem , Neurite Óptica/imunologia , Adolescente , Adulto , Idade de Início , Idoso , Criança , Pré-Escolar , Dor Ocular/diagnóstico , Feminino , Citometria de Fluxo , Técnica Indireta de Fluorescência para Anticorpo , Células HEK293 , Humanos , Imunoglobulina G/sangue , Imunossupressores/uso terapêutico , Masculino , Pessoa de Meia-Idade , Neurite Óptica/tratamento farmacológico , Papiledema/diagnóstico , Fenótipo , Estudos Retrospectivos , Transfecção , Transtornos da Visão/fisiopatologia , Acuidade Visual/fisiologiaRESUMO
PURPOSE: To report the antepartum presentation of Purtscher-like retinopathy and hemolysis, elevated liver enzymes, low platelets (HELLP) syndrome that resulted in severe permanent visual loss. DESIGN: Interventional case report. METHODS: A 25-year-old primigravida patient at 38.5 weeks gestation presented with severe bilateral loss of vision. Immediate hospitalization with complete evaluation, urgent medical treatment, and cesarean section was performed. RESULTS: Ophthalmoscopic evaluation showed bilateral Purtscher-like retinopathy. Laboratory studies revealed elevated liver enzymes, thrombocytopenia, and evidence of intravascular coagulation consistent with HELLP syndrome. Despite the successful delivery of a healthy baby, the patient developed permanent visual loss. CONCLUSION: Purtscher-like retinopathy with permanent visual loss can occur antepartum in patients with HELLP syndrome.
Assuntos
Cegueira/etiologia , Síndrome HELLP , Doenças Retinianas/etiologia , Adulto , Alanina Transaminase/sangue , Aspartato Aminotransferases/sangue , Cegueira/enzimologia , Cesárea , Coagulação Intravascular Disseminada/diagnóstico , Coagulação Intravascular Disseminada/etiologia , Feminino , Idade Gestacional , Humanos , L-Lactato Desidrogenase/sangue , Fígado/enzimologia , Tempo de Tromboplastina Parcial , Contagem de Plaquetas , Gravidez , Doenças Retinianas/enzimologia , Trombocitopenia/diagnóstico , Trombocitopenia/etiologiaRESUMO
Surgical resection and laser thermoablation have been used to treat medically refractory epilepsy with good results. However, they are not without risk. One of the most commonly reported complications of temporal lobe surgery is contralateral superior homonymous quadrantanopsia. We describe a patient with quadrantanopsia discovered as part of our recently modified protocol to workup patients prior to epilepsy surgery. This field cut was subtle and not detected on routine neurological examination. While we understand that this is a single case, we advocate for more judicious preoperative visual field examinations to truly characterize the incidence of postoperative visual field lesions.
RESUMO
In summary, neurologists should be aware of emergent neuro-ophthalmic conditions: (1) temporal arteritis (GCA), (2) IIH, (3) intracranial shunt malfunction, (4) pituitary apoplexy, and (5) pupil-involved TNP. Earlier recognition and treatment of these disorders makes a difference in final out-come. Appropriate evaluation and management may be vision or life saving.
Assuntos
Neurologia/métodos , Oftalmologia/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Arterite de Células Gigantes/diagnóstico , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Aspergillus is a ubiquitous mold that can cause several types of symptomatic infections: allergic aspergillosis, typically in young atopic patients; aspergillomas (often referred to as fungus balls); and invasive aspergillosis, typically seen in debilitated or immunocompromised patients. We describe an 85-year-old woman who was not immunocompromised but had invasive aspergillosis of the paranasal sinus that resulted in unilateral headache and retrobulbar optic neuropathy. After extensive differential diagnostic examination, we concluded that the condition was possibly related to the long-term use of nasal corticosteroids (fluticasone propionate aqueous nasal spray). Surgical removal of solid masses of Aspergillus organisms followed by extended treatment with antifungal agents resulted in a favorable outcome.
Assuntos
Androstadienos/efeitos adversos , Anti-Inflamatórios/efeitos adversos , Aspergilose/induzido quimicamente , Doenças dos Seios Paranasais/induzido quimicamente , Doenças dos Seios Paranasais/microbiologia , Administração Tópica , Idoso , Idoso de 80 Anos ou mais , Anti-Inflamatórios/administração & dosagem , Feminino , Fluticasona , Glucocorticoides , Cefaleia/microbiologia , Humanos , Doenças do Nervo Óptico/induzido quimicamente , Doenças do Nervo Óptico/diagnóstico por imagem , Doenças do Nervo Óptico/microbiologia , Tomografia Computadorizada por Raios XRESUMO
The evaluation and management of the neurologically isolated third nerve palsy continues to evolve. The major concern for the clinician confronted with a patient with a third nerve palsy has been the exclusion of an intracranial aneurysm. The evolution of new imaging techniques, such as computed tomography angiography and magnetic resonance angiography, have provided new imaging options for clinicians. This article reviews the pertinent recent literature on the use of these imaging studies in evaluating the patient with a third nerve palsy.
Assuntos
Angiografia/métodos , Imageamento por Ressonância Magnética/métodos , Doenças do Nervo Oculomotor/diagnóstico , Tomografia Computadorizada por Raios X/métodos , Artérias Cerebrais/patologia , HumanosRESUMO
PURPOSE: To provide an update on imaging of the brain and orbit for ophthalmologists. DESIGN: Literature review. METHODS: A systematic English-language medline search and summary of recent literature on imaging of brain and orbit was performed. RESULTS: Computed tomography and magnetic resonance (MR) scanning are the mainstays for the evaluation of most disorders involving the brain and orbit. Computed tomography angiography and magnetic resonance angiography are relatively newer applications that are useful for the evaluation of arterial and venous disorders. Special sequences such as fat suppression and fluid attenuation inversion recovery are useful techniques for specific ophthalmic indications. Diffusion weighted imaging and perfusion-weighted imaging are improving the evaluation of acute stroke. Functional MRI, positron emission tomography scanning and single photon emission computed tomography may provide useful information regarding brain or tumor metabolism. Magnetic resonance spectroscopy has expanded our knowledge of brain function. Newer imaging studies have improved our diagnostic abilities on many fronts, including new sequences, new applications of imaging studies, and functional imaging of brain. CONCLUSION: New imaging techniques for brain and orbit have an increased potential for improving diagnostic yield. Accurate and timely communication with the neuroradiologist can optimize the prescription and interpretation of imaging in ophthalmology.
Assuntos
Encefalopatias/diagnóstico , Diagnóstico por Imagem/métodos , Técnicas de Diagnóstico Oftalmológico , Doenças Orbitárias/diagnóstico , HumanosRESUMO
BACKGROUND: The uveo-meningeal syndromes are a group of disorders that share involvement of the uvea, retina, and meninges. REVIEW SUMMARY: We review the clinical manifestations of uveitis and describe the infectious, inflammatory, and neoplastic conditions associated with the uveo-meningeal syndrome. CONCLUSIONS: Inflammatory or autoimmune diseases are probably the most common clinically recognized causes of true uveo-meningeal syndromes. These entities often cause inflammation of various tissues in the body, including ocular structures and the meninges (eg, Wegener granulomatosis, sarcoidosis, Behcet disease, Vogt-Koyanagi-Harada syndrome, and acute posterior multifocal placoid pigment epitheliopathy). The association of an infectious uveitis with an acute or chronic meningoencephalitis is unusual but occasionally the eye examination may suggest an infectious etiology or even a specific organism responsible for a meningeal syndrome. One should consider the diagnosis of primary ocular-CNS lymphoma in patients 40 years of age or older with bilateral uveitis, especially with prominent vitritis, that fails to respond to treatment or who has associated neurologic findings. A paraneoplastic disorder has been described in patients who have combined optic neuritis and retinitis defined serologically by the presence of a paraneoplastic IgG autoantibody CRMP-5-IgG. These patients may have an inflammatory vitritis and may have signs of cerebrospinal fluid inflammation.
Assuntos
Meningite/etiologia , Retinite/etiologia , Uveíte/etiologia , Humanos , Meningite/diagnóstico , Meningite/terapia , Retinite/diagnóstico , Retinite/terapia , Síndrome , Uveíte/diagnóstico , Uveíte/terapiaRESUMO
BACKGROUND: Eye pain, periorbital and retro-orbital pain, and headache or facial pain referred to the orbital region are common presenting complaints. REVIEW SUMMARY: In this review, we discuss the etiologies of eye pain in the quiet eye, which is defined clinically as one with a clear cornea without redness or irritation of the conjunctiva or sclera. CONCLUSIONS: The causes of eye pain may be divided into two groups: (1) those associated with abnormal localizing ophthalmologic and neuro-ophthalmologic findings (including trigeminal neuropathies);(2) those with a normal ophthalmologic and neurologic examinations. The latter group is further divided into the following subgroups: (1) specific short-lasting or long-lasting headache or eye pain syndromes; (2) pain referred to the eye from other pathologic processes (secondary eye pain) sometimes distant from structures concerned with vision; and (3) pain from orbital, superior orbital fissure, cavernous sinus, or intracranial infiltrative, neoplastic, or inflammatory disease processes with normal ophthalmologic and neuro-ophthalmologic exam. Unfortunately, in some patients, no etiology for the pain syndrome is discerned and one is left with a diagnosis of idiopathic eye pain, eye strain, or atypical facial pain.
RESUMO
Neurologists should be aware of the following causes of eye pain: (1)ocular and orbital disorders with or without visible pathology of the eye (eg,redness, corneal opacity, or proptosis); (2) ophthalmologic syndromes associated with headache; and (3) headache syndromes associated with ophthalmologic findings.
Assuntos
Oftalmopatias , Neurologia/métodos , Oftalmologia/métodos , Dor/diagnóstico , Dor/etiologia , Diagnóstico Diferencial , Oftalmopatias/classificação , Oftalmopatias/complicações , Oftalmopatias/diagnóstico , Humanos , Tomografia Computadorizada por Raios XRESUMO
Systemic infectious disease may present with or include neuro-ophthalmic findings. Many of these signs and symptoms are related to topographical location of the infectious process,but some entities have distinctive and characteristic features that allow specific diagnosis. This article updates and reviews the neuro-ophthalmic features of infectious disease.
Assuntos
Oftalmopatias/microbiologia , Infecções/complicações , Doenças do Sistema Nervoso/microbiologia , HumanosRESUMO
Eye pain with or without associated head or face pain is a common complaint to the ophthalmologist. The ocular exam may reveal the etiology (e.g., corneal disease, angle closure glaucoma) but typically the exam is normal. This paper reviews the evaluation and management of eye pain with a "normal" ocular exam, including: 1) subtle findings on ocular exam; 2) transient findings on exam, and 3) no abnormal ocular findings. Ophthalmologists should be aware of the various etiologies for eye pain and the specific and distinctive features that make the diagnosis.
Assuntos
Oftalmopatias/complicações , Olho , Dor/etiologia , Técnicas de Diagnóstico Oftalmológico , Oftalmopatias/diagnóstico , HumanosRESUMO
Pain in and around the eye with or without an associated headache is a common presenting complaint to the neurologist. Although the main causes for eye pain are easily diagnosed by simple examination techniques that are readily available to a neurologist, sometimes the etiology is not as obvious and may require a referral to an ophthalmologist. This article summarizes and updates our prior review in Neurologic Clinics on this topic and includes (1) ocular and orbital disorders that produce eye pain with a normal examination, (2) neurologic syndromes with predominantly ophthalmologic presentations, and (3) ophthalmologic presentations of selected headache syndromes.
Assuntos
Oftalmopatias/diagnóstico , Dor Ocular/diagnóstico , Cefaleia/diagnóstico , Diagnóstico Diferencial , Oftalmopatias/terapia , Dor Ocular/complicações , Dor Ocular/terapia , Cefaleia/complicações , Cefaleia/terapia , HumanosAssuntos
Índice de Massa Corporal , Obesidade/complicações , Pseudotumor Cerebral/etiologia , Qualidade de Vida , Aumento de Peso , Pressão do Líquido Cefalorraquidiano , Nível de Saúde , Humanos , Obesidade/fisiopatologia , Pseudotumor Cerebral/fisiopatologia , Fatores de Risco , Inquéritos e QuestionáriosRESUMO
In this article, isolated palsies of cranial nerves III, IV, and VI are addressed. After discussion of the pertinent clinical anatomy of cranial nerves III, IV, and VI, the isolated involvement of each of these oculomotor nerves is defined. Based on a review of the literature, methods of evaluation and follow-up of patients presenting with diplopia from lesions of these cranial nerves are presented.