Profile of patients with essential blepharospasm and hemifacial spasm in the two largest ophthalmology reference centers in Brazil.

PURPOSE: Information is scarce regarding the comprehensive profile of patients with essential blepharospasm and hemifacial spasm in Brazil. The present study aimed to assess the clinical features of patients with these conditions, followed up in two reference centers in Brazil. METHODS: The study included patients with essential blepharospasm and hemifacial spasm, followed up at the Departments of Ophthalmology at Universidade Federal de São Paulo and Universidade de São Paulo. Apart from demographic and clinical features, past stressful events related to the first symptoms (triggering event), aggravating factors, sensory tricks, and other ameliorating factors for the eyelid spasms were assessed. RESULTS: A total of 102 patients were included in this study. Most patients were female (67.7%). Essential blepharospasm was the most frequent movement disorder [51/102 patients (50%)], followed by hemifacial spasm (45%) and Meige's syndrome (5%). In 63.5% of the patients, the onset of the disorder was associated with a past stressful event. Ameliorating factors were reported by 76.5% of patients; 47% of patients reported sensory tricks. In addition, 87% of the patients reported the presence of an aggravating factor for the spasms; stress (51%) was the most frequent. CONCLUSION: Our study provides information regarding the clinical features of patients treated in the two largest ophthalmology reference centers in Brazil.

The Effect of Smartphone Video on Lead Time to Diagnosis of Infantile Spasms.

OBJECTIVE: To assess whether access to smartphone video capture of infantile spasms at initial presentation is associated with improved time to diagnosis and treatment. METHODS: We conducted a collaborative retrospective cohort study of 80 consecutive infants with confirmed infantile epileptic spasms syndrome initially presenting from 2015 to 2021 at 2 US pediatric centers. Statistical methods used included Mann-Whitney U test to assess the difference in lead times to electroencephalogram (EEG), diagnosis, and treatment between groups with and without video capture. A χ2 analysis was used to assess differences in demographics, clinical characteristics, and treatment outcomes between groups. Multivariate regression analysis was used to account for etiology types and infantile spasms capture on EEG. RESULTS: Patients with smartphone video infantile spasms capture initially presented a median of 9 days earlier (P = .02), had their first EEG 16 days earlier (P = .007), and were diagnosed and started treatment 17 days earlier (P = .006 and P = .008, respectively) compared with the nonvideo group. The video group had a 25% greater response to initial standard treatment (P = .02) and a 21% greater freedom from infantile spasms at long-term follow-up (P = .03), although this long-term outcome lost statistical significance after adjustment for etiology type (P = .07) and EEG capture of infantile spasms (P = .059). CONCLUSION: Our findings suggest a benefit of smartphone video capture of infantile spasms in reduced time to diagnosis and initial standard treatment, which are associated with improved treatment response rates. Substantial differences in lead times and treatment response highlight the clinical importance of pediatricians recommending caregivers to obtain smartphone video of events concerning for infantile spasms.

Ocular Surface Metrics in Blepharospasm Patients After Treatment With Botulinum Toxin Injections.

PURPOSE: The purpose of this study was to assess blepharospasm patients regarding the effect of botulinum toxin in ocular surface parameters. METHODS: A prospective study was performed in blepharospasm patients treated with onabotulinumtoxinA. A smartphone (iPhone 6S, Apple) and custom-made software were used to record the eyelid movements for 3 minutes in a standardized manner. Optical coherence tomography of the tear meniscus was used to assess the tear meniscus area. Tear break-up time and the Ocular Surface Disease Index questionnaire were also evaluated. Patients were assessed before and 15 days after botulinum toxin injections. RESULTS: Forty eyes of 20 patients were evaluated. The frequency of the spontaneous eyelid movements was significantly reduced after treatment (23.18 ± 12.85 movements/min vs. 9.29 ± 6.87 movements/min; p < 0.0001). Significant increases in the tear meniscus area (0.020 ± 0.015 mm 2 vs. 0.057 ± 0.104 mm 2 ; p = 0.01) and in break-up time (4.2 ± 1.2 seconds vs. 5.1 ± 1.3 seconds; p = 0.03) were observed 15 days after treatment. A significant reduction in the Ocular Surface Disease Index (59.05 ± 19.04 vs. 21.2 ± 19.5; p < 0.0001) was also observed. CONCLUSION: Significant changes in the tear meniscus area, break-up time, and Ocular Surface Disease Index after treatment reflect the effect of botulinum toxin on the lacrimal pump and in the improvement of dry eye symptoms. Reduction of eyelid spasms after treatment in blepharospasm patients was demonstrated using a smartphone and custom-made software. Thus, beyond relieving eyelid spasms, botulinum toxin injections were associated with subjective and objective improvement of dry eye parameters in patients with blepharospasm.

Is Satoyoshi syndrome an autoimmune disease? A systematic review.

OBJECTIVES: Satoyoshi syndrome is a rare multisystem disease of presumed autoimmune aetiology. We carried out a systematic review to evaluate the available evidence to support that autoimmune hypothesis. METHODS: We searched for Satoyoshi syndrome cases in PubMed, the Web of Science and Scopus up to January 2022, using keywords 'Satoyoshi syndrome' or 'Komuragaeri disease'. Data on symptoms, associated autoimmune diseases, presence of autoantibodies and response to treatment were collected. RESULTS: A total of 77 patients from 57 articles published between 1967 and 2021 were included; 59 patients were women. The mean age at diagnosis was 21.2 years. All cases had painful muscular spasms and alopecia. Frequent manifestations included: diarrhoea, malabsorption, growth retardation, amenorrhoea and bone deformity. Satoyoshi syndrome was associated with other autoimmune diseases: myasthenia gravis, autoimmune thyroiditis, idiopathic thrombocytopenic purpura, atopic dermatitis, bronchial and lupus erythematosus. Autoantibody determinations were performed in 39 patients, of which 27 had positive results. The most frequently detected autoantibodies were ANAs. Other less frequently found autoantibodies were: anti-acetylcholine receptor antibodies, anti-DNA antibodies, antithyroid antibodies, anti-glutamic acid decarboxylase (anti-GAD) and anti-gliadin antibodies. Pharmacological treatment was reported in 50 patients. Most of them improved with CS, immunosuppressants and immunoglobulins, or a combination of these medications. CONCLUSION: Satoyoshi syndrome is associated with other autoimmune diseases and a variety of autoantibodies. Improvement after CS or other immunosuppressant treatment was observed in 90% of cases. These data support an autoimmune aetiology for Satoyoshi syndrome. More studies including systematic determination of autoantibodies in all patients with Satoyoshi syndrome will help us advance in our understanding of this disease.

Neuromielitis óptica y lupus eritematoso sistémico en un hombre: caso clínico / Neuromyelitis optica presenting concomitantly with systemic lupus erythematosus: report of one case

Neuromyelitis optica (NMO) is a severe demyelinating disease of the central nervous system, which preferentially attacks the optic nerve and spinal cord. It is associated with antibodies against aquaporin 4. Morbidity and mortality are higher than in multiple sclerosis and its treatment focuses on immunosuppressive drugs. Immunomodulators are contraindicated. We report a previously healthy 35-year-old man, presenting with NMO concomitantly with systemic lupus erythematosus. His evolution was torpid with three outbreaks in the 10 months after the diagnosis, requiring a first-line therapy with methylprednisolone and cyclophosphamide and then a second-line therapy with rituximab.

[Neuromyelitis optica presenting concomitantly with systemic lupus erythematosus: Report of one case]. / Neuromielitis óptica y lupus eritematoso sistémico en un hombre: Caso clínico.

Neuromyelitis optica (NMO) is a severe demyelinating disease of the central nervous system, which preferentially attacks the optic nerve and spinal cord. It is associated with antibodies against aquaporin 4. Morbidity and mortality are higher than in multiple sclerosis and its treatment focuses on immunosuppressive drugs. Immunomodulators are contraindicated. We report a previously healthy 35-year-old man, presenting with NMO concomitantly with systemic lupus erythematosus. His evolution was torpid with three outbreaks in the 10 months after the diagnosis, requiring a first-line therapy with methylprednisolone and cyclophosphamide and then a second-line therapy with rituximab.

Edema pulmonar no cardiogénico secundario a laringoespasmo posterior a anestesia general / Laryngospasm induced pulmonary edema following general anesthesia. A case report

Se presenta el caso clínico de un paciente joven, sano, que desarrolló edema pulmonar no cardiogénico secundario a laringoespasmo posterior a la extubación, no detectándose el problema en forma inmediata, sino hasta 24 hrs después cuando se manifestó con taquicardia y desaturación por oximetría de pulso. La radiografía de tórax, mostró infiltrados alveolares bilaterales difusos y zona de confluencia en el lóbulo superior del pulmón derecho. No requirió reintubación. La terapia consistió en oxígeno suplementario por puntas nasales, restricción de líquidos, diuréticos, esteroides, broncodilatadores y antibióticos. Después del tratamiento establecido, hubo franca mejoría 24 hrs después, confirmado clínica y radiológicamente

Colapso circulatorio intraoperatorio debido a espasmo coronario después de revascularización coronaria exitosa / Intraoperative circulatory collapse due to coronary artery spasm folowing successfully coronary artery bypass graftin

Es espasmo de las arterias coronarias es una entidad actualmente reconocida como causa de isquemia y de colapso circulatorio en el trans y post-operatorio de la cirugía de revascularización coronaria. Presentamos nuestra experiencia en la detección y manejo de 2 casos con colapso hemodinámico durante el retiro de la circulación extracorpórea. Estos síntomas fueron refractarios al tratamiento con inotrópicos como la norepinefrina, y la epinefrina y con vasodilatadores como la nitroglicerina. Los cambios electrocardiográficos y la pobre respuesta al tratamiento, en ambos casos, donde la cirugía se consideró exitosa, en base a protección miocárdica excelente y revascularización completa, sugirieron un espasmo coronario severo. En ambos se usó nifedipina sublingual, obteniéndose una respuesta satisfactoria e inmediata, lo que permitió retirar el apoyo inotrópico y la circulación extracorpórea. Revisamos la literatura sobre la fisiopatología y el tratamiento del espasmo coronario en la cirugía cardiaca

Espasmo hemifacial e impressäo basilar associados a malformaçäo de Arnold-Chiari: relato de caso / Hemifacial spasm and basilar impression associated with Arnold-Chiari deformity: report of a case

Os autores relatam o caso de uma paciente com espasmo hemifacial e impressäo basilar associados a malformaçäo de Arnold-Chiari. Com a descompressäo cirúrgica da fossa posterior, empregada no tratamento da impressäo basilar, houve melhora do quadro clínico e o espasmo hemifacial se reduziu quanto à freqüência, duraçäo e intensidade. É enfatizada a necessidade do tratamento etiológico do espasmo hemifacial, antes de se recorrer à toxina botulínica

[Hemifacial spasm and basilar impression associated with Arnold-Chiari deformity. Report of a case]. / Espasmo hemifacial e impressão basilar associados a malformação de Arnold-Chiari. Relato de caso.

The authors report a case of symptomatic basilar impression and Arnold-Chiari malformation being presented as the first symptom of hemifacial spasm. The surgical treatment of the malformation resulted in improvement of the clinical manifestation with reduction of the hemifacial spasm. The need for the aetiological therapy for the hemifacial spasm is emphasized, before symptomatic treatment with botulinum toxin is tried.

Familial ichthyosis, dwarfism, mental retardation, and renal disease.

The nonrandom association of congenital ichthyosis with neurologic impairment, ectodermal dysplasia, dwarfism, hypogonadism, and renal disease has prompted the review of numerous syndromes. The difficulties in characterization of syndromes in the absence of pathognomonic signs is discussed in relation to three siblings presented herein. Despite extensive investigation, underlying metabolic defects remain obscure.