RESUMO
BACKGROUND: This manuscript describes a case of a patient with presumed ocular tuberculosis masquerading as multiple evanescent white dot syndrome. CASE PRESENTATION: A 32-year-old male patient presented with a complaint of reduced visual acuity in the left eye. Retinal fundus exam of the left eye revealed gray-whitish deep lesions predominantly nasal to the optic disc. The lesions were more clearly identifiable on fundus autofluorescence (FAF) imaging, fluorescein angiography (FA) and en face optical coherence tomography (OCT). FA also indicated retinal vasculitis and papillitis. Swept-source OCT B-scan demonstrated loss of the ellipsoid layer in the regions corresponding to the lesions detected by FAF. A positive tuberculin skin test (TST) confirmed presumed tuberculosis, and a related WDS diagnosis was made. Specific antituberculosis therapy was instituted with favorable anatomical recovery and visual outcome. CONCLUSION: Multiple evanescent white dot syndrome (MEWDS) may be manifestation of presumed ocular tuberculosis, and multimodal retinal exams can provide a better understanding of atypical diseases and their follow-up.
RESUMO
Cleidocranial dysostosis is a rare genetic syndrome with an autosomal dominant inheritance pattern. The most common manifestations include clavicular aplasia or hypoplasia, open fontanelles and abnormal dentition. The present report describes two familial cases whose late diagnosis was made by means of clinical and radiographic findings. The treatment was radical, with complete surgical teeth extraction and making of total dental prosthesis.
RESUMO
BACKGROUND: Sickle cell disease is a genetic, hereditary and chronic disease that affects the health of its carriers and might impair their health-related quality of life. OBJECTIVE: The aim of the current study was to assess the health-related quality of life of individuals with sickle cell disease followed at referral centers in Alagoas, Brazil. METHODS: A total of 40 individuals with sickle cell disease aged 12 to 43 years old were evaluated by means of sociodemographic and clinical questionnaires, the Medical Outcomes Study 36-Item Short Form Health Survey and the Beck Depression Inventory. The latter was applied only to adults. RESULTS: Most participants were adults (62.5%) with a predominance of the SS genotype (85%) with pain being the commonest complication (95%). Mood disorder was found in 40% of the adults. The patients exhibited overall impairment of quality of life, which was more pronounced among the adults and under 15-year-old adolescents. Married adults exhibited less impairment of most quality of life domains compared to unmarried adults, and the adults with mood disorder exhibited greater impairment of all quality of life domains. CONCLUSIONS: These results suggest that interventions that aim to improve vitality, pain, and mental health might contribute to maintaining high levels of quality of life in patients with sickle cell disease, especially among adults and under 15-year-old adolescents.
RESUMO
BACKGROUND: Sickle cell disease is a genetic, hereditary and chronic disease that affects the health of its carriers and might impair their health-related quality of life. OBJECTIVE: The aim of the current study was to assess the health-related quality of life of individuals with sickle cell disease followed at referral centers in Alagoas, Brazil. METHODS: A total of 40 individuals with sickle cell disease aged 12 to 43 years old were evaluated by means of sociodemographic and clinical questionnaires, the Medical Outcomes Study 36-Item Short Form Health Survey and the Beck Depression Inventory. The latter was applied only to adults. RESULTS: Most participants were adults (62.5%) with a predominance of the SS genotype (85%) with pain being the commonest complication (95%). Mood disorder was found in 40% of the adults. The patients exhibited overall impairment of quality of life, which was more pronounced among the adults and under 15-year-old adolescents. Married adults exhibited less impairment of most quality of life domains compared to unmarried adults, and the adults with mood disorder exhibited greater impairment of all quality of life domains. CONCLUSIONS: These results suggest that interventions that aim to improve vitality, pain, and mental health might contribute to maintaining high levels of quality of life in patients with sickle cell disease, especially among adults and under 15-year-old adolescents.
