A Case of Regression of Mile Stones with Cherry Red Spot
International Journal of Science and Research (IJSR)

International Journal of Science and Research (IJSR)
www.ijsr.net | Most Trusted Research Journal Since Year 2012

ISSN: 2319-7064



Case Studies | Pediatrics | India | Volume 4 Issue 1, January 2015

A Case of Regression of Mile Stones with Cherry Red Spot

Dr. K. Rami Reddy, Dr. Y. Sivaram Krishna, Dr. B. Elizabeth

Taysachs disease is a autosomal recessive disorder of sphingolipid metabolism caused by enzyme hexoseaminidase A deficiency that leads to an accumulation of GM2 in neurocytes which results in progressive loss of neuronal function. The accumulation of lipids in retinal ganglion cells that leads to a chalky white appearance of the fundus other findings include cherry red spot is hallmark of taysachsdisease. This disease is particularly prevalent in ashkenazijews in whom a carrier state of 1 in 30 has been reported.This is a case report of infantile taysachs disease in 1 year 10 months old female baby born of non consanguineous parentage who presented with seizures, exaggerated startle response, nystagmus, and regression of the acquired mile stones.

Keywords: taysachs disease, sphingolipid, hexoseaminidase A, cherry red spot, nystagmus, startle response

Edition: Volume 4 Issue 1, January 2015

Pages: 1955 - 1957

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How to Cite this Article?

Dr. K. Rami Reddy, Dr. Y. Sivaram Krishna, Dr. B. Elizabeth, "A Case of Regression of Mile Stones with Cherry Red Spot", International Journal of Science and Research (IJSR), https://www.ijsr.net/search_index_results_paperid.php?id=SUB15748, Volume 4 Issue 1, January 2015, 1955 - 1957

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