Tay Sachs disease-case report

Abstract

Tay Sachs's disease is a rare disorder, genetically inherited from parents of a child. It is caused by the absence of an enzyme that helps dissolve the fatty substances. These fatty substances, called gangliosides, rise to toxic levels in the child's brain and affect the function of nerve cells. By progressing the disease, the child loses muscle control. Eventually, it leads to blindness, paralysis and death.Most often, the newborn begins to show symptoms at the age of about 6 months. Signs and symptoms of Tay Sachs' disease can be: loss of motor skills, loss of ability to overturn, sitting or crawling. Then there are seizures, loss of hearing and inability to move, increased reactions when the baby hears loud noises, loss of visual acuity, the appearance of "Cherry-red" spots in the eyes, muscle weakness.