Case Report
Year: 2021 | Month: July | Volume: 11 | Issue: 7 | Pages: 194-196
DOI: https://doi.org/10.52403/ijhsr.20210728
Tay-Sachs Disease: A Rare Storage Disorder in Children
Sunil Kumar Agarwalla1, Laxmipriya Tudu2, Arpita Jalan3
1Associate Professor, Dept of Pediatrics MKCG Medical College Berhampur, Odisha.
2Senior Resident, Dept of Pediatrics MKCG Medical College Berhampur, Odisha.
3Junior Resident, Dept of Pediatrics MKCG Medical College Berhampur, Odisha.
Corresponding Author: Laxmipriya Tudu
ABSTRACT
Tay-Sachs disease is an autosomal recessive lysosomal storage disorder cause by deficiency of enzyme Beta Hexosaminidase A and leading to accumulation of GM2 gangliosides mainly in CNS, results in progressive loss of neurological functions.
We report a case of 14 month old male child presented to us with neuro-developmental regression, convulsions and bilateral cherry red spot on funduscopy. The diagnosis of Tay-Sachs disease was made by marked decrease level of enzyme Hexosaminidase A.
Key words: Lysosomal storage disorder, GM2 gangliosides, neuro- regression, cherry red spot, Enzyme replacement therapy.