Tay-Sachs disease: case report
Journal: Revista de Medicina da UFC (Vol.60, No. 3)Publication Date: 2020-09-30
Authors : André Tigre Lima; Ricardo Evangelista Marrocos de Aragão; Igor Costa Menezes; Pedro Marques de Mesquita Filho; Lívia Studart de Menezes; Rafael Jorge Alves de Alcântara;
Page : 48-50
Keywords : Tay-Sachs disease; Hexosaminidase A; Sphingolipids;
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.
Other Latest Articles
- Is late thrombolysis effective for subacute renal vein thrombosis in patients with nephrotic syndrome? a case report
- Perfil clínico-epidemiológico de mulheres no ciclo gravídico-puerperal internadas em uma Unidade de Terapia Intensiva
- Acidentes de trabalho e o uso de equipamentos de proteção individuais pelos profissionais de saúde em um Hospital Terciário
- Mortalidade hospitalar de recém-nascidos de muito baixo peso em uma maternidade terciária no município de Fortaleza–CE
- Avaliação do tratamento das dislipidemias em pacientes acompanhados no ambulatório de cardiologia do Hospital Universitário Walter Cantídio
Last modified: 2020-10-09 23:35:09