RESUMEN
ABSTRACT: To investigate clinical features and diagnosis process of ocular myasthenia gravis (OMG) in ophthalmology department.A total of 36 patients with ptosis or diplopia who had follow-up for at least 3âmonths between March 2016 and December 2019 were included in this study. Clinical symptoms of patients and the test results were analyzed. According to the positivity of serologic test, these patients were divided into 2 groups (confirmed OMG and possible OMG with relief of symptoms after antimyasthenic treatment) for comparison.Ptosis was present in 12 (33.33%) patients, diplopia was present in 14 (38.89%) patients, and both ptosis and diplopia were present in 10 (27.78%) patients. Acetylcholine receptor auto-antibody (AchR Ab) was positive in 14 (38.89%) of 36 patients and ice test was positive in 15 (71.43%) of 21 patients with ptosis. Unequivocal response to pyridostigmine was observed in 31 (86.11%) patients. For seropositive cases, AchR Ab titer was significantly higher in the group with 2 clinical symptoms than that in the 1 clinical symptom (Pâ=â.011).This study presents the usefulness and diagnostic validity of antimyasthenic treatment for OMG, especially seronegative OMG, with detailed symptom analysis.
Asunto(s)
Autoanticuerpos/sangre , Blefaroptosis/epidemiología , Inhibidores de la Colinesterasa/administración & dosificación , Diplopía/epidemiología , Miastenia Gravis/diagnóstico , Adulto , Anciano , Autoanticuerpos/inmunología , Blefaroptosis/sangre , Blefaroptosis/tratamiento farmacológico , Blefaroptosis/inmunología , Diagnóstico Diferencial , Diplopía/sangre , Diplopía/tratamiento farmacológico , Diplopía/inmunología , Estudios de Factibilidad , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Miastenia Gravis/complicaciones , Miastenia Gravis/tratamiento farmacológico , Miastenia Gravis/inmunología , Músculos Oculomotores/efectos de los fármacos , Músculos Oculomotores/inmunología , Bromuro de Piridostigmina/administración & dosificación , Receptores Colinérgicos/inmunología , Resultado del Tratamiento , Adulto JovenAsunto(s)
Encefalitis Antirreceptor N-Metil-D-Aspartato/diagnóstico , Tronco Encefálico/patología , Encefalitis/diagnóstico , Adulto , Encefalitis Antirreceptor N-Metil-D-Aspartato/sangre , Encefalitis Antirreceptor N-Metil-D-Aspartato/complicaciones , Autoanticuerpos/análisis , Autoanticuerpos/sangre , Blefaroptosis/sangre , Blefaroptosis/complicaciones , Blefaroptosis/diagnóstico , Tronco Encefálico/diagnóstico por imagen , Diagnóstico Diferencial , Encefalitis/sangre , Encefalitis/complicaciones , Encefalitis/patología , Femenino , Humanos , Imagen por Resonancia Magnética , Trastornos del Movimiento/sangre , Trastornos del Movimiento/diagnóstico , Trastornos del Movimiento/etiología , Cuadriplejía/sangre , Cuadriplejía/diagnóstico , Cuadriplejía/etiología , Receptores de N-Metil-D-Aspartato/inmunologíaAsunto(s)
Autoanticuerpos/sangre , Blefaroptosis/sangre , Miastenia Gravis , Enfermedades Neurodegenerativas/sangre , Receptores Colinérgicos/sangre , Blefaroptosis/complicaciones , Blefaroptosis/diagnóstico por imagen , Humanos , Cuerpos de Inclusión Intranucleares , Masculino , Persona de Mediana Edad , Enfermedades Neurodegenerativas/complicaciones , Enfermedades Neurodegenerativas/diagnóstico por imagenRESUMEN
Autoimmune autonomic ganglionopathy (AAG), clinically characterized by gastrointestinal dysmotility, orthostatic hypotension and tonic pupils, is an idiopathic acquired disorder of the autonomic nervous system elicited by antibodies against ganglionic acetylcholine receptor (gAChR). We encountered a 60-year-old man who presented with severe anhidrosis, difficulty in thermoregulation, orthostatic hypotension, gastrointestinal dysmotility, tonic pupils and ptosis. Histologically, an anhidrotic skin sample was normal. Routine laboratory examinations of blood, urine and cerebrospinal fluid returned no abnormal findings. Serological examination revealed antibodies against α3 and ß4 subunits of gAChR. The diagnosis was AAG. As sudomotor dysfunction reflects ganglionic neuropathy in AAG, we concluded that his anhidrosis was attributable to AAG. Anhidrosis is an important clue for the diagnosis of AAG, a rare neurological disorder.
Asunto(s)
Autoanticuerpos/sangre , Enfermedades Autoinmunes del Sistema Nervioso/complicaciones , Ganglios Autónomos/inmunología , Hipohidrosis/etiología , Proteínas del Tejido Nervioso/inmunología , Receptores Nicotínicos/inmunología , Autoanticuerpos/inmunología , Enfermedades Autoinmunes del Sistema Nervioso/sangre , Enfermedades Autoinmunes del Sistema Nervioso/inmunología , Enfermedades Autoinmunes del Sistema Nervioso/terapia , Blefaroptosis/sangre , Blefaroptosis/etiología , Blefaroptosis/terapia , Ganglios Autónomos/efectos de los fármacos , Ganglios Autónomos/patología , Enfermedades Gastrointestinales/sangre , Enfermedades Gastrointestinales/etiología , Enfermedades Gastrointestinales/terapia , Motilidad Gastrointestinal/efectos de los fármacos , Glucocorticoides/uso terapéutico , Humanos , Hipohidrosis/sangre , Hipohidrosis/terapia , Hipotensión Ortostática/sangre , Hipotensión Ortostática/etiología , Hipotensión Ortostática/terapia , Inmunoglobulinas Intravenosas/uso terapéutico , Masculino , Persona de Mediana Edad , Plasmaféresis , Prednisolona/uso terapéutico , Piel/inervación , Piel/patología , Insuficiencia del TratamientoRESUMEN
Acute bilateral ptosis can be a hallmark of several serious neurological conditions. We present the first case of acute bilateral near-complete ptosis secondary to neuromyelitis optica spectrum disorder. We suggest that clinicians should consider this disorder among the differential diagnosis of acute bilateral ptosis, especially if there are other brainstem signs.
Asunto(s)
Blefaroptosis/diagnóstico por imagen , Neuromielitis Óptica/diagnóstico por imagen , Anciano , Blefaroptosis/sangre , Blefaroptosis/tratamiento farmacológico , Diagnóstico Diferencial , Femenino , Humanos , Inmunoglobulinas Intravenosas/uso terapéutico , Neuromielitis Óptica/sangre , Neuromielitis Óptica/tratamiento farmacológicoAsunto(s)
Enfermedades del Sistema Nervioso Autónomo/diagnóstico , Blefaroptosis/diagnóstico , Dopamina beta-Hidroxilasa/deficiencia , Hipotensión Ortostática/diagnóstico , Norepinefrina/deficiencia , Adolescente , Enfermedades del Sistema Nervioso Autónomo/sangre , Enfermedades del Sistema Nervioso Autónomo/genética , Enfermedades del Sistema Nervioso Autónomo/patología , Monoaminas Biogénicas/sangre , Blefaroptosis/sangre , Blefaroptosis/genética , Consanguinidad , Creatinina/sangre , Dopamina beta-Hidroxilasa/sangre , Dopamina beta-Hidroxilasa/genética , Femenino , Tasa de Filtración Glomerular , Frecuencia Cardíaca , Humanos , Hipotensión Ortostática/sangre , Hipotensión Ortostática/genética , Túbulos Renales/citología , Túbulos Renales/patología , Túbulos Renales/ultraestructura , Microscopía Electrónica , Mitocondrias/patología , Mitocondrias/ultraestructura , Músculo Esquelético/citología , Músculo Esquelético/patología , Norepinefrina/sangre , Norepinefrina/genéticaAsunto(s)
Enfermedades del Sistema Nervioso Autónomo/diagnóstico , Blefaroptosis/diagnóstico , Dopamina beta-Hidroxilasa/deficiencia , Hipotensión Ortostática/diagnóstico , Norepinefrina/deficiencia , Adolescente , Enfermedades del Sistema Nervioso Autónomo/sangre , Enfermedades del Sistema Nervioso Autónomo/genética , Monoaminas Biogénicas/sangre , Blefaroptosis/sangre , Blefaroptosis/genética , Consanguinidad , Creatinina/sangre , Dopamina beta-Hidroxilasa/sangre , Dopamina beta-Hidroxilasa/genética , Femenino , Tasa de Filtración Glomerular , Frecuencia Cardíaca , Humanos , Hipotensión Ortostática/sangre , Hipotensión Ortostática/genética , Túbulos Renales/citología , Túbulos Renales/patología , Túbulos Renales/ultraestructura , Microscopía Electrónica , Mitocondrias/patología , Mitocondrias/ultraestructura , Músculo Esquelético/citología , Músculo Esquelético/patología , Norepinefrina/sangre , Norepinefrina/genéticaRESUMEN
Miller Fisher syndrome (MFS), variant of acute inflammatory demyelinating polyradiculoneuropathy, is recognized as clinical triad (ophthalmoplegia-ataxia-areflexia). Ganglioside antibodies play an important role in the pathogenesis of acute polyradiculoneuropathy including MFS. To our knowledge, there has been no report of MFS presenting with atypical alternating ptosis or with concurrent elevation of serum GD1 and asialo-GM1 antibody titers, and negative titers of GQ1b antibody such as our patient. Our objective is to report MFS with unusual symptoms and to share our diagnostic approach. We report a rare case of MFS presenting with alternating eyelid ptosis, paresthesia, and ataxia after a respiratory infection. Initial neurological examination revealed left eyelid ptosis, hyporeflexia, positive Romberg sign, and ataxia. The ice pack test was negative. Three days later, contralateral ptosis was observed, associated with areflexia and worsened ataxia. However, there was significant improvement of the previous left eyelid ptosis. Serology revealed elevated asialo-GM1 and GD1b antibodies. Acetylcholine receptor antibodies were negative. Cerebral spinal fluid revealed elevated IgG index. Nerve conduction studies (NCS) performed four days after the onset of symptoms showed normal nerve conduction velocities and F-waves, and absent bilateral H-reflexes. Repetitive nerve stimulation (3 Hz) showed no decrement of compound muscle action potentials. Trial with a single dose of pyridostigmine showed no clinical improvement. The symptoms resolved without intervention. NCS 18 days after onset of symptoms showed mildly prolonged F-waves and absent H-reflexes. This case highlights an atypical presentation of MFS and raises the awareness of a rare autoantibody associated with it.
Asunto(s)
Anticuerpos/sangre , Blefaroptosis/sangre , Gangliósido G(M1)/inmunología , Gangliósidos/inmunología , Adulto , Blefaroptosis/patología , Femenino , HumanosRESUMEN
Two sisters with blepharophimosis, ptosis, epicanthus inversus, and telecanthus were examined. Both patients also had amblyopia in the right eye and menstrual abnormalities associated with elevated serum luteinizing hormone and follicle-stimulating hormone. The patients' father was suspected of having blepharophimosis and ptosis. It is possible that the blepharophimosis syndrome observed in this family is of autosomal dominant inheritance. We believe that this condition of blepharophimosis, ptosis, epicanthus inversus, telecanthus, amblyopia, and menstrual abnormality found in our patients may be rare, and that the menstrual abnormality in these patients may be associated with ovarial failure.