Assuntos
Apraxias , Síndrome de Cogan , Ataxias Espinocerebelares , Apraxias/complicações , Apraxias/diagnóstico por imagem , Apraxias/genética , Síndrome de Cogan/complicações , Síndrome de Cogan/diagnóstico por imagem , Síndrome de Cogan/genética , Movimentos Oculares , Humanos , Mutação , Irmãos , Ataxias Espinocerebelares/complicações , Ataxias Espinocerebelares/congênito , Ataxias Espinocerebelares/diagnóstico por imagem , Ataxias Espinocerebelares/genéticaRESUMO
INTRODUCTION: A case of dual corneal involvement due to Fuchs endothelial corneal dystrophy and epithelial basement membrane corneal dystrophy in a patient with Steinert's myotonic dystrophy type 1 is described, and a literature review on the triple association is made. CASE DESCRIPTION: A 52-year-old male diagnosed with myotonic dystrophy type 1 presented due to progressive bilateral vision loss during the past year. A full ophthalmological evaluation was made, with biomicroscopy, funduscopy, anterior segment optical coherence tomography, and endothelial cell count using specular microscopy. Exploration revealed bilateral superior palpebral ptosis, visual acuity 0.5 in the right eye and 0.3 in the left eye, and with an intraocular pressure of 11 and 10 mmHg, respectively. Biomicroscopy revealed map-dot-fingerprint lesions characteristic of epithelial basement membrane corneal dystrophy in both eyes, as well as abundant endothelial guttae due to Fuchs endothelial corneal dystrophy (stage II) and bilateral nuclear and posterior subcapsular cataracts. Specular microscopy in turn showed cell loss and a destructured endothelial map. Finally, anterior segment optical coherence tomography revealed the accumulation of epithelial basement membrane and hyperreflective endothelial excrescences corresponding to guttae. CONCLUSION: The association of Fuchs endothelial corneal dystrophy with myotonic dystrophy has been described and explained by a common genetic basis in the expansion of a CTG trinucleotide repeat, though this is the first reported case of the triple association of Fuchs endothelial corneal dystrophy, epithelial basement membrane corneal dystrophy, and myotonic dystrophy type 1. New mutations or still unknown genetic alterations could possibly explain the triple association reported in our case.
Assuntos
Síndrome de Cogan/etiologia , Distrofia Endotelial de Fuchs/etiologia , Distrofia Miotônica/complicações , Síndrome de Cogan/diagnóstico por imagem , Síndrome de Cogan/patologia , Distrofia Endotelial de Fuchs/diagnóstico por imagem , Distrofia Endotelial de Fuchs/patologia , Humanos , Pressão Intraocular , Masculino , Pessoa de Meia-Idade , Distrofia Miotônica/diagnóstico por imagem , Distrofia Miotônica/patologia , Microscopia com Lâmpada de Fenda , Tomografia de Coerência Óptica , Tonometria Ocular , Transtornos da Visão/etiologia , Acuidade VisualRESUMO
We present the case of a 68-year-old woman who developed progressive visuospatial deficits in a period of 18 months, leading to the loss of her independence for activities of daily living. After examination, she showed signs of Balint syndrome with optic ataxia, oculomotor apraxia, and simultanagnosia without visual acuity impairment. After brain imaging showing severe bilateral parieto-occipital association cortex atrophy, a diagnosis of posterior cortical atrophy was made according to the 2017 International Consortium's criteria.
Assuntos
Córtex Cerebral/diagnóstico por imagem , Córtex Cerebral/patologia , Idoso , Apraxias/congênito , Apraxias/diagnóstico por imagem , Apraxias/etiologia , Apraxias/patologia , Ataxia/etiologia , Atrofia , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Síndrome de Cogan/diagnóstico por imagem , Síndrome de Cogan/patologia , Feminino , Humanos , Lobo Occipital/patologia , Lobo Parietal/patologia , Transtornos da Visão/diagnóstico por imagem , Transtornos da Visão/etiologiaAssuntos
Anormalidades Múltiplas/diagnóstico por imagem , Apraxias/congênito , Cerebelo/anormalidades , Síndrome de Cogan/diagnóstico por imagem , Anormalidades do Olho/diagnóstico por imagem , Movimentos da Cabeça , Doenças Renais Císticas/diagnóstico por imagem , Mioclonia/diagnóstico por imagem , Retina/anormalidades , Adulto , Apraxias/complicações , Apraxias/diagnóstico por imagem , Cerebelo/diagnóstico por imagem , Síndrome de Cogan/complicações , Anormalidades do Olho/complicações , Movimentos da Cabeça/fisiologia , Humanos , Doenças Renais Císticas/complicações , Masculino , Mioclonia/complicações , Retina/diagnóstico por imagemRESUMO
RATIONALE: The etiology of anterior corneal opacities and the effect of debridement cannot be determined by biomicroscopy. Optical coherence tomography (OCT) helps identify the character and depth of these lesions. PATIENT CONCERNS: A 45-year-old female complained of progressive blurred vision for a long time. Slit lamp biomicroscopy showed irregular, faint scar-like opacity of anterior cornea in her both eyes. Pentacam Scheimpflug camera tomography showed irregular astigmatism of anterior corneal surface. Anterior segment spectral-domain OCT revealed thickened, hyper-reflective linings, and scattered lesions, mainly in the epithelial layer. DIAGNOSES: Epithelial basement membrane dystrophy (EBMD). INTERVENTION: Epithelial debridement and bandage lenses. OUTCOMES: The cornea became clear and the vision improved soon after debridement. The pathology showed thickened aberrant basement membrane extending into mid-epithelial layer, with microcyst-like lesions also noted. LESSONS: OCT defines the depth of lesions and helps diagnosis and management of EBMD.
Assuntos
Síndrome de Cogan/diagnóstico por imagem , Tomografia de Coerência Óptica/métodos , Membrana Basal/diagnóstico por imagem , Membrana Basal/cirurgia , Síndrome de Cogan/cirurgia , Córnea/diagnóstico por imagem , Córnea/cirurgia , Desbridamento/métodos , Feminino , Humanos , Pessoa de Meia-Idade , Microscopia com Lâmpada de Fenda/métodosRESUMO
PURPOSE: Evaluate the specificity and sensitivity of disappearance of susceptibility weighted imaging (SWI) dentate nuclei (DN) hypointensity in oculomotor apraxia patients (AOA). METHOD: In this prospective study, 27 patients with autosomal genetic ataxia (AOA (n = 11), Friedreich ataxia and ataxia with vitamin E deficit (n = 4), and dominant genetic ataxia (n = 12)) were included along with fifteen healthy controls. MRIs were qualitatively classified for the presence or absence of DN hypointensity on FLAIR and SWI sequences. The MRIs were then quantitatively studied, with measurement of a ratio of DN over brainstem white matter signal intensity through manual delineation. The institutional review board approved this study, and written informed consent was obtained. In the cross-sectional analysis, the Mann-Whitney test was applied. RESULTS: Qualitatively, the eleven AOA patients presented absence of both DN SWI and FLAIR hyposignals; three dominant genetic ataxia patients had moderate SWI DN hyposignal and absent FLAIR hyposignal; the thirteen remaining subjects presented normal SWI and FLAIR DN hyposignal. Absence of DN SWI hypointensity was 100% sensitive and specific to AOA. Quantitative signal intensity ratio (mean ± standard deviation) of the AOA group (98·96 ± 5·37%) was significantly higher than in control subjects group (76.40 ± 8.34%; p < 0.001), dominant genetic ataxia group (81·15 ± 9·94%; p < 0·001), and Friedreich ataxia and ataxia with vitamin E deficit group (87·56 ± 2·78%; p < 0·02). CONCLUSION: This small study shows that loss of the normal hypointensity in the dentate nucleus on both SWI and FLAIR imaging at 3 T is a highly sensitive and specific biomarker for AOA.
Assuntos
Apraxias/congênito , Síndrome de Cogan/complicações , Síndrome de Cogan/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Ataxias Espinocerebelares/congênito , Adulto , Apraxias/complicações , Apraxias/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Sensibilidade e Especificidade , Ataxias Espinocerebelares/complicações , Ataxias Espinocerebelares/diagnóstico por imagemRESUMO
Importance: Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive cerebellar ataxia due to mutations in the aprataxin gene (APTX) that is characterized by early-onset cerebellar ataxia, oculomotor apraxia, axonal motor neuropathy, and eventual decrease of albumin serum levels. Objectives: To improve the clinical, biomarker, and molecular delineation of AOA1 and provide genotype-phenotype correlations. Design, Setting, and Participants: This retrospective analysis included the clinical, biological (especially regarding biomarkers of the disease), electrophysiologic, imaging, and molecular data of all patients consecutively diagnosed with AOA1 in a single genetics laboratory from January 1, 2002, through December 31, 2014. Data were analyzed from January 1, 2015, through January 31, 2016. Main Outcomes and Measures: The clinical, biological, and molecular spectrum of AOA1 and genotype-phenotype correlations. Results: The diagnosis of AOA1 was confirmed in 80 patients (46 men [58%] and 34 women [42%]; mean [SD] age at onset, 7.7 [7.4] years) from 51 families, including 57 new (with 8 new mutations) and 23 previously described patients. Elevated levels of α-fetoprotein (AFP) were found in 33 patients (41%); hypoalbuminemia, in 50 (63%). Median AFP level was higher in patients with AOA1 (6.0 ng/mL; range, 1.1-17.0 ng/mL) than in patients without ataxia (3.4 ng/mL; range, 0.8-17.2 ng/mL; P < .01). Decreased albumin levels (ρ = -0.532) and elevated AFP levels (ρ = 0.637) were correlated with disease duration. The p.Trp279* mutation, initially reported as restricted to the Portuguese founder haplotype, was discovered in 53 patients with AOA1 (66%) with broad white racial origins. Oculomotor apraxia was found in 49 patients (61%); polyneuropathy, in 74 (93%); and cerebellar atrophy, in 78 (98%). Oculomotor apraxia correlated with the severity of ataxia and mutation type, being more frequent with deletion or truncating mutations (83%) than with presence of at least 1 missense variant (17%; P < .01). Mean (SD) age at onset was higher for patients with at least 1 missense mutation (17.7 [11.4] vs 5.2 [2.6] years; P < .001). Conclusions and Relevance: The AFP level, slightly elevated in a substantial fraction of patients, may constitute a new biomarker for AOA1. Oculomotor apraxia may be an optional finding in AOA1 and correlates with more severe disease. The p.Trp279* mutation is the most frequent APTX mutation in the white population. APTX missense mutations may be associated with a milder phenotype.
Assuntos
Apraxias/congênito , Ataxia/genética , Síndrome de Cogan/genética , Proteínas de Ligação a DNA/genética , Estudos de Associação Genética , Mutação/genética , Proteínas Nucleares/genética , Adolescente , Adulto , Apraxias/complicações , Apraxias/diagnóstico por imagem , Apraxias/genética , Ataxia/complicações , Ataxia/diagnóstico por imagem , Síndrome de Cogan/complicações , Síndrome de Cogan/diagnóstico por imagem , Avaliação da Deficiência , Feminino , Humanos , Cooperação Internacional , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Canais de Cátion TRPC/genética , Adulto Jovem , alfa-Fetoproteínas/metabolismoRESUMO
INTRODUCTION: Bálint's syndrome involves bilateral damage to the parieto-occipital area. The extent of the effect of unilateral damage on the Bálint's triad (oculomotor apraxia, optic ataxia, and simultanagnosia) remains unknown. METHODS: We examined a 63-year-old, right-handed woman who developed right hemianopia, oculomotor apraxia, optic ataxia, simultanagnosia, and hemispatial neglect (HSN) for the right after a cerebral infarction, with detailed neuropsychological tests, magnetic resonance imaging, and single photon emission computed tomography (SPECT). RESULTS: Neuropsychological examination showed that oculomotor apraxia, optic ataxia, and simultanagnosia were more pronounced in the right hemi-space, probably due to the limited eye movement in the right visual field, whereas HSN was restricted to the right hemi-space. Diffusion-weighted MR images revealed hyperintensity in the left parieto-temporo-occipital region, and several spotty areas of the bilateral frontal and parietal subcortical regions. SPECT revealed hypoperfusion in the left parieto-occipital region and frontal operculum and small areas of the right superior parietal lobule. CONCLUSIONS: The case suggests that asymmetric (more pronounced in the right hemi-space) oculomotor apraxia, optic ataxia, and simultanagnosia occur in an extensive lesion of the left parieto-occipital cortices. Although HSN is not a prerequisite for simultanagnosia, the coexistence of HSN aggravates simultanagnosia in the hemi-space opposite the lesion.
Assuntos
Agnosia/diagnóstico por imagem , Apraxias/congênito , Ataxia/diagnóstico por imagem , Síndrome de Cogan/diagnóstico por imagem , Lobo Occipital/diagnóstico por imagem , Lobo Parietal/diagnóstico por imagem , Transtornos da Percepção/diagnóstico por imagem , Agnosia/complicações , Apraxias/complicações , Apraxias/diagnóstico por imagem , Ataxia/complicações , Síndrome de Cogan/complicações , Evolução Fatal , Feminino , Humanos , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Testes Neuropsicológicos , Transtornos da Percepção/complicaçõesAssuntos
Apraxias/congênito , Síndrome de Cogan/genética , Enzimas Reparadoras do DNA/genética , Microcefalia/genética , Fosfotransferases (Aceptor do Grupo Álcool)/genética , Convulsões/genética , Adulto , Idade de Início , Apraxias/diagnóstico por imagem , Apraxias/genética , Apraxias/fisiopatologia , Encéfalo/diagnóstico por imagem , Encéfalo/fisiopatologia , Criança , Síndrome de Cogan/diagnóstico por imagem , Síndrome de Cogan/fisiopatologia , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Microcefalia/diagnóstico por imagem , Microcefalia/fisiopatologia , Mutação , Linhagem , Convulsões/diagnóstico por imagem , Convulsões/fisiopatologiaRESUMO
Summary The inflammation of aortic wall, named aortitis, is a rare condition that can be caused by a number of pathologies, mainly inflammatory or infectious in nature. In this context, the occurrence of combined audiovestibular and/or ocular manifestations eventually led to the diagnosis of Cogan's syndrome, making it the rare case, but susceptible to adequate immunosuppressive treatment and satisfactory disease control.
Resumo A inflamação da parede da aorta, denominada aortite, é uma condição clínica rara, que pode ser causada por diversas patologias, principalmente as de fundo inflamatório e/ou infeccioso. Nesse contexto, a ocorrência de sintomas vestibulares e oftalmológicos associados ao quadro remete ao diagnóstico de síndrome de Cogan, tornando o caso raro, mas passível de tratamento imunossupressor adequado e controle satisfatório da doença.
Assuntos
Humanos , Masculino , Idoso , Aortite/diagnóstico por imagem , Síndrome de Cogan/diagnóstico por imagem , Aorta Torácica/diagnóstico por imagem , Aortite/patologia , Angiocardiografia , Diagnóstico Diferencial , Síndrome de Cogan/tratamento farmacológico , Imunossupressores/uso terapêuticoRESUMO
Whether the recessive ataxias, Ataxia with oculomotor apraxia type 1 (AOA1) and 2 (AOA2) and Ataxia telangiectasia (AT), can be distinguished by video-oculography and alpha-fetoprotein level remains unknown. We compared 40 patients with AOA1, AOA2 and AT, consecutively referred between 2008 and 2015 with 17 healthy subjects. Video-oculography revealed constant impairments in patients such as cerebellar signs, altered fixation, impaired pursuit, hypometric saccades and abnormal antisaccades. Horizontal saccade latencies could be highly increased reflecting oculomotor apraxia in one third of patients. Specific distinctive alpha-fetoprotein thresholds were determined for AOA1 (7-15 µg/L), AOA2 (15-65 µg/L) and AT (>65 µg/L). Early age onset, severe walking disability, movement disorders, sensori-motor neuropathy and cerebellar atrophy were all shared. In conclusion, alpha-fetoprotein level seems to permit a distinction while video-oculography does not and therefore is not mandatory, even if an appropriate oculomotor examination remains crucial. Our findings are that AOA1, AOA2 and AT form a particular group characterized by ataxia with complex oculomotor disturbances and elevated AFP for which the final diagnosis is relying on genetic analysis. These findings could guide genetic analysis, assist reverse-phenotyping and provide background for the interpretation of the numerous variants of unknown significance provided by next-generation sequencing.
Assuntos
Apraxias/congênito , Ataxia Telangiectasia/sangue , Ataxia Telangiectasia/diagnóstico por imagem , Síndrome de Cogan/sangue , Síndrome de Cogan/diagnóstico por imagem , Imagem Multimodal , alfa-Fetoproteínas/metabolismo , Adolescente , Adulto , Apraxias/sangue , Apraxias/diagnóstico por imagem , Apraxias/genética , Ataxia Telangiectasia/genética , Criança , Pré-Escolar , Síndrome de Cogan/genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , alfa-Fetoproteínas/genéticaRESUMO
Vasculitis, characterized by inflammation of vessel walls, is comprised of heterogeneous clinicopathological entities, and thus poses a diagnostic challenge. The most widely used approach for classifying vasculitides is based on the International Chapel Hill Consensus Conference (CHCC) nomenclature system. Based on the recently revised CHCC 2012, we propose computed tomography (CT) features of vasculitides and a differential diagnosis based on location and morphological characteristics. Finally, vasculitis mimics should be differentiated, because erroneous application of immunosuppressive drugs on vasculitis mimics may be ineffective, even deteriorating. This article presents the utility of CT in the diagnosis and differential diagnosis of vasculitides.
Assuntos
Vasculite/diagnóstico , Síndrome de Behçet/diagnóstico , Síndrome de Behçet/diagnóstico por imagem , Síndrome de Cogan/diagnóstico , Síndrome de Cogan/diagnóstico por imagem , Consenso , Diagnóstico Diferencial , Arterite de Células Gigantes/diagnóstico , Arterite de Células Gigantes/diagnóstico por imagem , Granulomatose com Poliangiite/diagnóstico , Granulomatose com Poliangiite/diagnóstico por imagem , Humanos , Síndrome de Linfonodos Mucocutâneos/diagnóstico , Síndrome de Linfonodos Mucocutâneos/diagnóstico por imagem , Poliarterite Nodosa/diagnóstico , Poliarterite Nodosa/diagnóstico por imagem , Arterite de Takayasu/diagnóstico , Arterite de Takayasu/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Vasculite/diagnóstico por imagemRESUMO
INTRODUCTION: Cross-modal interactions improve the processing of external stimuli, particularly when an isolated sensory modality is impaired. When information from different modalities is integrated, object recognition is facilitated probably as a result of bottom-up and top-down processes. The aim of this study was to investigate the potential effects of cross-modal stimulation in a case of simultanagnosia. METHOD: We report a detailed analysis of clinical symptoms and an 18F-fluorodeoxyglucose (FDG) brain positron emission tomography/computed tomography (PET/CT) study of a patient affected by Balint's syndrome, a rare and invasive visual-spatial disorder following bilateral parieto-occipital lesions. An experiment was conducted to investigate the effects of visual and nonvisual cues on performance in tasks involving the recognition of overlapping pictures. Four modalities of sensory cues were used: visual, tactile, olfactory, and auditory. RESULTS: Data from neuropsychological tests showed the presence of ocular apraxia, optic ataxia, and simultanagnosia. The results of the experiment indicate a positive effect of the cues on the recognition of overlapping pictures, not only in the identification of the congruent valid-cued stimulus (target) but also in the identification of the other, noncued stimuli. All the sensory modalities analyzed (except the auditory stimulus) were efficacious in terms of increasing visual recognition. CONCLUSIONS: Cross-modal integration improved the patient's ability to recognize overlapping figures. However, while in the visual unimodal modality both bottom-up (priming, familiarity effect, disengagement of attention) and top-down processes (mental representation and short-term memory, the endogenous orientation of attention) are involved, in the cross-modal integration it is semantic representations that mainly activate visual recognition processes. These results are potentially useful for the design of rehabilitation training for attentional and visual-perceptual deficits.
Assuntos
Apraxias/congênito , Síndrome de Cogan/psicologia , Sinais (Psicologia) , Estimulação Luminosa , Adulto , Apraxias/diagnóstico por imagem , Apraxias/psicologia , Encéfalo/diagnóstico por imagem , Síndrome de Cogan/diagnóstico por imagem , Fluordesoxiglucose F18 , Humanos , Masculino , Memória de Curto Prazo , Testes Neuropsicológicos , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Desempenho Psicomotor , Compostos Radiofarmacêuticos , Percepção VisualRESUMO
We identified PNKP mutations in a Norwegian woman with AOA. This patient had the typical findings with cognitive dysfunction, peripheral neuropathy, cerebellar dysarthria, horizontal nystagmus, oculomotor apraxia, and severe truncal and appendicular ataxia. In addition, she had hypoalbuminemia and massive lower limb edema which showed some improvement with treatment. Exome sequencing identified two heterozygous mutations, one in exon 14 (c.1196T>C, p.Leu399Pro) and one in exon 16 (c.1393_1396del, p.Glu465*). This is the first non-Portuguese patient with AOA due to PNKP mutations and provides independent verification that PNKP mutations cause AOA.
Assuntos
Apraxias/congênito , Ataxia/genética , Síndrome de Cogan/genética , Enzimas Reparadoras do DNA/genética , Edema/genética , Mutação , Fosfotransferases (Aceptor do Grupo Álcool)/genética , Apraxias/diagnóstico por imagem , Apraxias/genética , Apraxias/patologia , Ataxia/diagnóstico por imagem , Ataxia/patologia , Síndrome de Cogan/diagnóstico por imagem , Síndrome de Cogan/patologia , Edema/patologia , Feminino , Humanos , Perna (Membro)/patologia , Pessoa de Meia-Idade , Noruega , População Branca/genéticaRESUMO
The inflammation of aortic wall, named aortitis, is a rare condition that can be caused by a number of pathologies, mainly inflammatory or infectious in nature. In this context, the occurrence of combined audiovestibular and/or ocular manifestations eventually led to the diagnosis of Cogan's syndrome, making it the rare case, but susceptible to adequate immunosuppressive treatment and satisfactory disease control.
Assuntos
Aortite/diagnóstico por imagem , Síndrome de Cogan/diagnóstico por imagem , Idoso , Angiocardiografia , Aorta Torácica/diagnóstico por imagem , Aortite/patologia , Síndrome de Cogan/tratamento farmacológico , Diagnóstico Diferencial , Humanos , Imunossupressores/uso terapêutico , MasculinoAssuntos
Apraxias/congênito , Síndrome de Cogan/diagnóstico por imagem , Via Perfurante/diagnóstico por imagem , Transtornos da Visão/diagnóstico por imagem , Substância Branca/diagnóstico por imagem , Apraxias/complicações , Apraxias/diagnóstico por imagem , Síndrome de Cogan/complicações , Transtornos Cognitivos/complicações , Transtornos Cognitivos/diagnóstico por imagem , Feminino , Humanos , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Transtornos da Visão/complicaçõesAssuntos
Síndrome de Cogan/complicações , Síndrome de Cogan/diagnóstico por imagem , Ceratocone/complicações , Ceratocone/diagnóstico por imagem , Membrana Basal/diagnóstico por imagem , Membrana Basal/patologia , Topografia da Córnea , Humanos , Masculino , Pessoa de Meia-Idade , Tomografia de Coerência ÓpticaRESUMO
Cogan's syndrome is a relatively rare inflammatory disorder presenting with a combination of ocular and vestibuloauditory symptoms. The first cases were described by David Cogan in 1945. Typically the ocular signs involve the anterior segment; however there are no descriptions of orbital inflammation associated with Cogan's syndrome. We describe such a case. A 66-year-old immunosuppressed male patient with known Cogan's syndrome presented to the eye department with right-sided proptosis, chemosis and ocular injection. Ocular motility was reduced. Other than Cogan's syndrome there were no other systemic disorders. Medical treatment included: Azathioprine 125 mg/day and low dose Tab Prednisolone 30 mg/day. A provisional diagnosis of orbital cellulitis was made and intravenous antibiotics started. Blood investigations showed raised CRP levels 475 mg/L and raised WCC (24 × 10(9)/l). An urgent CT scan of the head and orbits ruled out orbital cellulititis. The diagnosis was revised and the patient was treated for orbital inflammatory disease. Pulsed intravenous methlyprednisolone was commenced and oral steroids were increased to 60 mg/day, the Azathioprine was continued. Over the following week, the proptosis had resolved, and oral steroids were reduced back to the maintenance dose. To our knowledge this is the first description of orbital inflammatory disease associated with Cogan's syndrome.
Assuntos
Síndrome de Cogan/complicações , Síndrome de Cogan/tratamento farmacológico , Idoso , Azatioprina/uso terapêutico , Síndrome de Cogan/diagnóstico por imagem , Glucocorticoides/uso terapêutico , Humanos , Hospedeiro Imunocomprometido , Imunossupressores/uso terapêutico , Inflamação/diagnóstico por imagem , Inflamação/tratamento farmacológico , Inflamação/etiologia , Masculino , Órbita/diagnóstico por imagem , Prednisolona/uso terapêutico , Tomografia Computadorizada por Raios XRESUMO
We report a 53-year-old male with Cogan's syndrome. He was admitted to our hospital because of a fever of 2-weeks duration, blurred vision for 10 days, hypoacusis, and numbness of the left hand for 3 days. In addition to uveitis, hypoacusis, and aseptic meningitis, multiple mononeuropathy was diagnosed based on a nerve conduction study. Furthermore, positron emission tomography/computed tomography (PET/CT) revealed diffuse aortitis. Accordingly, the patient was diagnosed with Cogan's syndrome. After starting steroid-pulse therapy followed by 1 mg oral prednisolone/kg/day, the uveitis and hypoacusis improved immediately, while the peripheral neuropathy persisted until effectively treated with intravenous gamma globulin therapy. Prompt steroid therapy for Cogan's syndrome based on a diagnosis made using PET/CT prevented progression of the hypoacusis.