PDF(Pubmed)
Abstract：
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.
摘要：
泰萨克斯病(TSD)是一种罕见的疾病，致命的神经退行性疾病的特征是缺乏酶己糖胺酶-A（HexA），这导致单唾液酸神经节苷脂2（GM2）在神经细胞内的积累，主要影响阿什肯纳齐犹太血统的个人。我们报告了一个3岁的南亚男性婴儿GM2神经节病的显着病例，再加上支气管肺炎，Tay-Sachs患者罕见的并发症。病人出现反复发作,发烧,咳嗽,和发育迟缓。诊断的确认是通过降低HexA酶活性获得的，通过成像和血液和尿液分析证实。家族史对于血缘关系和相似的同胞死亡具有重要意义。尽管这种疾病具有进行性，对症管理，包括抗癫痫药物,抗生素治疗,和支持性护理，导致临床状况的改善，尽管持续的监测仍然至关重要。在这种情况下,支气管肺炎与Tay-Sachs病并存是不寻常的，反映了这个案例报告的必要性。患者的反应突出了对症治疗的潜力，遗传咨询的重要性，以及研究基因和酶替代疗法的必要性。这种情况的独特性提供了对疾病谱的新见解，提高认识,鼓励早期诊断，完善泰萨克斯病的护理策略，与改善患者预后和推进医学研究的更广泛目标保持一致。
