BIOS251 WK 3 CASE STUDY

Introduction recap:

The cell is the structural & and functional unit of living organisms capable of carrying out life processes. The normal functions of an organism, as a whole, are the outcome of the activities & and interactions of cells and their organelles. An organelle may be defined as a structure made of molecules organized in such a way that it can perform a specific function. Think of organelles as “tiny organs” that allow each cell to live. Even though organelles cannot survive outside the cell, without organelles, the cell itself could not survive either. Examples of organelles are the nucleus, endoplasmic reticulum, Golgi apparatus, lysosomes, and mitochondria.

Scenario/Summary

In this case study, we look at the clinical implications of what happens to a client when one of a cell’s “tiny organ” organelles fails to function properly. In particular, we will use a lysosomal storage disease to demonstrate this.

Mrs. Anderson brings her 9-month-old daughter, Emily, to the pediatric clinic for a routine check-up. During the examination, the nurse practitioner notices that Emily is not reaching typical developmental milestones. Mrs. Anderson mentions that she has noticed a loss of formerly acquired skills, such as the ability to track objects with her eyes and respond to her name.

Upon further inquiry, Mrs. Anderson discloses that she and her husband are carriers of Tay-Sachs disease, a genetic disorder that runs in their Ashkenazi Jewish heritage. The nurse practitioner decides to conduct a thorough assessment, including a neurological examination.

During the examination, Emily exhibits decreased muscle tone, poor head control, and a lack of response to visual and auditory stimuli. The nurse also observes a cherry-red spot on the retina upon fundoscopic examination. Given Emily’s clinical presentation and the family history, the nurse suspects Tay-Sachs disease.

Additional diagnostic procedures, such as enzyme assays, validate the presence of hexosaminidase A deficiency, thereby establishing the diagnosis of Tay-Sachs disease. The nurse discusses the prognosis and challenges associated with Tay-Sachs with Mrs. Anderson, providing emotional support and referring the family to a genetic counselor for further guidance.

Over subsequent visits, the nurse collaborates with the healthcare team to implement a comprehensive care plan that focuses on symptom management, supportive therapies, and anticipatory guidance for the family. The interdisciplinary team works together to optimize Emily’s quality of life while addressing the complex medical and emotional aspects of Tay-Sachs disease.

KEY CHARACTERISTICS OF THIS CONDITION

• Developmental delay: clients may not reach developmental milestones.

• Fundoscopic examination shows a characteristic cherry red spot on the macule: due to the deposition of GM2 ganglioside. Gangliosides are a type of glycosphingolipid, which means they consist of a lipid (fatty acid) portion and a carbohydrate (sugar) portion. GM2 gangliosides are complex glycosphingolipids that are an integral part of cell membranes, particularly in nervous tissue.

• Cause: Hexosaminidase A gene (HEXA) gene mutation.

• Consequence: Hexosaminidase A enzyme (HEX A) is required to degrade GM2 ganglioside; without the HEX A enzyme, GM2 ganglioside accumulates in the lysosomes of brain and nerve cells.

• Inheritance pattern: autosomal recessive

Deliverables

Please address the following questions in complete sentences.

1. What is the normal function of Lysosomes?

2. What are the monomers of the Hexosaminidase A enzyme?

3. What is the composition of a cell’s plasma membrane?

4. List all the non-membrane-bound and all the membrane-bound cellular organelles in a eukaryotic cell.

5. A nurse is caring for a 6-month-old infant who has been diagnosed with Tay-Sachs disease. The parents express concern about the child’s developmental milestones. Which of the following statements by the nurse is most appropriate?

a. “Your child’s development may be delayed, but interventions can help improve outcomes.”

b. “Tay-Sachs disease typically does not affect developmental milestones in the first year of life.”

c. “Your child’s development is likely to progress normally, as Tay-Sachs primarily affects motor function.”

d. “There’s no need to worry about developmental delays in Tay-Sachs disease; it primarily affects cognitive function