Abstract
Objectives: Report a case of Tay-Sachs disease. Methods: A complete ophthalmologic examination, retinography and blood dosage of hexosaminidase A (EHA) activity were performed. Results: A one year and seven months old male with a history of generalized tonic-clonic seizures, with delayed neuropsychomotor development from the eighth month of life. At the ophthalmologic examination the patient did not fix or follow objects, with bilateral horizontal nystagmus. The fundoscopy revealed an image of “cherry-red spot” in the macula in both eyes. Dosage of EHA activity confirmed diagnosis of Tay-Sachs disease. Conclusion: Tay-Sachs Disease is a genetic disease with an autosomal recessive inheritance pattern characterized by deficiency of EHA activity, leading to the accumulation of sphingolipids in neuronal cells that results in progressive neurological dysfunction. In the retina, there is deposition in the ganglion cells, resulting in the appearance of cherry-red spot macula. There is no curative treatment, aiming at the therapy, only the clinical support in the patient.
Highlights
Tay-Sachs disease is a neurodegenerative disorder that results in accumulation of a glycosphingolipidespecially in neurons
TaySachs Disease is a genetic disease with an autosomal recessive inheritance pattern characterized by deficiency of enzima hexosaminidase A (EHA) activity, leading to the accumulation of sphingolipids in neuronal cells that results in progressive neurological dysfunction
Its pathophysiology is a partial or total quantitative defect of the enzyme hexosaminidase A, a genetic condition determined by an autosomal recessive pattern.[1]
Summary
Tay-Sachs disease is a neurodegenerative disorder that results in accumulation of a glycosphingolipid (ganglioside GM2)especially in neurons. Its pathophysiology is a partial or total quantitative defect of the enzyme hexosaminidase A, a genetic condition determined by an autosomal recessive pattern.[1] In the first months of life there is minimal or no clinical abnormality, being only identified in the electronic microscopy of the brain and the retina.[2]. Signs and symptoms begin around the 5th month of life characterized by progressive psychomotor retardation, megaencephaly, cherry-red spot, retinal injury, blindness, deafness, paralysis and death between the 3rd and 5th year of life. The ophthalmological changes have been described since 1881 by Warren Tay and shows an unaltered optic nerve, pale-whitish macula well-delimited with a notoriously hyperchromic center in red-brown color. This color contrast draws attention and defines the injury in “cherry-red spot”.3
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