Case study: Neurodegenerative Disease
Esther is eight-months old. Her parents, Sarah and David, have brought her to your pediatric office for a check-up. Up to six months of age, Esther was reaching normal growth and development milestones. She was sitting with support, holding her head up, laughing at her parents’ funny faces, reaching for toys, and playing with her toes. However, over the last two months, her parents have noticed that she seems “floppy” and tired. She seems to have trouble holding her head up, and doesn’t reach as quickly for toys. She also seems to cry more, and doesn’t follow the sound of her mother’s voice when she walks into the baby’s room. Her parents are seeking reassurance that they are over-reacting.
How would you proceed?
Questions to get you started:
- What types of symptoms is Esther showing?
- Why are these symptoms of particular concern in an 8-month-old?
- Is the gender of the patient important? What questions would you seek to answer during a patient/family history?
- What diagnostic tests would you order for Esther?
* * * * * * * * * * *
During the physical examination, Esther seems lethargic, and responds slowly to voices. During the family history, you learn that a nephew died at 2 years of age with similar symptoms, as well as a great-cousin. Upon learning that both Sarah and David are Jewish, you become concerned and obtain blood and check samples to test for Tay Sachs Disease. The tests come back positive.
How would you proceed?
Additional questions:
- Describe Tay Sachs disease. What are the primary signs and symptoms? How do you test for this disease? What is the prognosis for Esther?
- What is the cause of Tay Sachs disease?
- Explain how Tay Sachs disease relates to our discussion of cell biology.