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.
Keywords: bronchopneumonia; consanguinity; enzyme replacement therapy; genetic counseling; gm2 gangliosidosis; hexosaminidase a deficiency; neurodegenerative disorders; rare pediatric presentation; seizure management; tay-sachs disease.
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