RESUMO
Tay-Sachs disease (TSD) is a rare, fatal neurodegenerative disorder characterized by the deficiency of the enzyme hexosaminidase-A (Hex A), which results in the accumulation of monosialoganglioside2 (GM2) ganglioside within nerve cells, predominantly affecting individuals of Ashkenazi Jewish descent. We report a remarkable case of a three-year-old South Asian male with infantile GM2 gangliosidosis, compounded by bronchopneumonia, a rarely documented complication in Tay-Sachs patients. The patient presented with recurrent seizures, fever, cough, and developmental delay. Confirmation of the diagnosis was obtained through reduced Hex A enzyme activity, corroborated by imaging and blood and urine analyses. Family history was significant for consanguinity and similar sibling fatalities. Despite the progressive nature of the disease, symptomatic management, including antiepileptic drugs, antibiotic therapy, and supportive care, led to an improvement in clinical condition, though ongoing monitoring remains essential. In this case, the coexistence of bronchopneumonia with Tay-Sachs disease is unusual, reflecting the necessity for this case report. The patient's response highlights the potential for symptomatic management, the importance of genetic counseling, and the imperative for research into gene and enzyme replacement therapies. The uniqueness of this case provides novel insights into the disease's spectrum, enhancing awareness, encouraging early diagnosis, and refining care strategies for Tay-Sachs disease, aligning with the broader goals of improving patient outcomes and advancing medical research.
RESUMO
Smoking is a well-established risk factor for stroke, yet its impact on stroke prognosis remains complex and multifaceted. This systematic review aims to elucidate the relationship between smoking and various stroke outcomes, including response to treatment and long-term recovery. We conducted a comprehensive analysis of four fundamental studies that examined the prognosis of stroke in smokers, focusing on clinical outcomes post-endovascular treatment, response to antiplatelet therapy, incidence of post-stroke delirium, and the effectiveness of thrombolysis treatment. The studies varied in design, including observational, retrospective, and post hoc trial analyses. The review reveals that smoking may paradoxically predict better clinical outcomes in specific treatment scenarios, such as post-endovascular treatment and when using clopidogrel. However, smokers also demonstrated higher rates of ischemic stroke and post-stroke delirium. Notably, the smoker's paradox in thrombolysis treatment was not supported. These findings highlight the need for personalized treatment approaches based on smoking status. Smoking has a complex and significant impact on stroke prognosis. While some benefits in specific treatment contexts were observed, the overall evidence strongly advises against smoking due to its adverse health consequences. This review underscores the importance of personalized stroke management in smokers and the integration of smoking cessation programs in post-stroke care. Future research should focus on larger, longitudinal studies to explore these associations further.
