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.
View Article and Find Full Text PDFFocal cortical dysplasia (FCD) is a prominent neurological disorder characterized by disruptions in localized brain cell organization and development. This narrative review delineates the multi-faceted nature of FCD, emphasizing its correlation with drug-resistant epilepsy, predominantly in children and young adults. We explore the historical context of FCD, highlighting its indispensable role in shaping our comprehension of epilepsy and cortical anomalies.
View Article and Find Full Text PDFAutoimmune pancreatitis (AIP) is an uncommon variant of chronic pancreatitis characterized by inflammatory changes within the pancreatic tissue triggered by autoimmune mechanisms. It is known to mimic pancreatic cancer due to its similar clinical and radiological presentations. We underline a case of a 55-year-old male who presented with weight loss, jaundice, and pruritus.
View Article and Find Full Text PDFBackground Cerebrovascular disease is the second leading cause of death and the third leading cause of disability following heart disease. In 2019, there were over 101 million people living with a stroke and 12.2 million incidents of stroke globally.
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