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Updated: Jan 19, 2026
Unusual Results
Unusual case of Juvenile Tay-Sachs disease
Huma A Cheema1, Nadia Waheed1, Anjum Saeed1
1Department of Pediatric Medicine, Division of Pediatric Gastroenterology, Hepatology and Nutrition, Children's Hospital and Institute of Child Health, Lahore, Pakistan.
Abstract:
Tay-Sachs disease (TSD) is a type 1 gangliosidosis (GM2) and caused by hexosaminidase A deficiency resulting in abnormal sphingolipid metabolism and deposition of precursors in different organs. It is a progressive neurodegenerative disorder transmitted in an autosomal-recessive manner. There is an accumulation of GM2 in neurocytes and retinal ganglions which result in progressive loss of neurological function and formation of the cherry-red spot which is the hallmark of TSD. We report the first case of juvenile TSD from Pakistan in a child with death of an older sibling without the diagnosis.
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