Exam (elaborations)
BIOS251 WK 3 CASE STUDY
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BIOS251 WK 3 CASE STUDY BIOS251 WK 3 CASE STUDY BIOS251 WK 3 CASE STUDY
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BIOS251 WK 3 CASE STUDYIntroduction 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
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