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Case report
Unusual case of Juvenile Tay-Sachs disease
  1. Huma A Cheema,
  2. Nadia Waheed and
  3. Anjum Saeed
  1. Department of Pediatric Medicine, Division of Pediatric Gastroenterology, Hepatology and Nutrition, Children’s Hospital and Institute of Child Health, Lahore, Pakistan
  1. Correspondence to Dr Anjum Saeed, anjuj2002{at}


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.

  • Paediatrics
  • Genetics
  • Metabolic Disorders
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  • Contributors HAC: manuscript design and writing. NW: review and reference collection. AS: initial review and reference provision.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Patient consent for publication Parental/guardian consent obtained.

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