Infantile GM1 Gangliosidosis Presenting with Neuroregression and Leukodystrophy: A Case Report
GM1 gangliosidosis is a rare autosomal recessive lysosomal storage disorder caused by β-galactosidase deficiency, resulting in GM1 ganglioside accumulation. The infantile form presents early with developmental regression and hypotonia. We report a 20-month-old Malay girl with progressive neuroregression, macrocephaly,...