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Case Studies | Pediatrics | Volume 4 Issue 1, January 2015 | Pages: 1955 - 1957 | India
A Case of Regression of Mile Stones with Cherry Red Spot
Abstract: 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
How to Cite?: Dr. K. Rami Reddy, Dr. Y. Sivaram Krishna, Dr. B. Elizabeth, "A Case of Regression of Mile Stones with Cherry Red Spot", Volume 4 Issue 1, January 2015, International Journal of Science and Research (IJSR), Pages: 1955-1957, https://www.ijsr.net/getabstract.php?paperid=SUB15748, DOI: https://dx.doi.org/10.21275/SUB15748