Tay-Sachs disease: case report

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.

Keywords

• tay-sachs disease
• hexosaminidase a
• sphingolipids