Case Study 2

Anatomy and Physiology-Case Study #2
A new mother has just given birth to her first child. After initial delivery, physicians
observe the pia-arachnoid membrane. On this membrane and the associated CSF near the
lumbar region, a distinct cystic swelling is noted. The attending pediatrician conducts a
preliminary evaluation of the infant. The first test, placement of the physicians thumb on
the plantar region lacks any movement in the infant’s phalanges. The infant also lacks
mobility inferior the pelvic region. The physician orders a Spine CT and a Spine MRI
test, both tests confirm the fusion of the cyst, membrane, and nerve roots of the spinal
During the first trimester of the pregnancy, the mother was given a triple screen blood
test. However, for personal reasons she chose not to receive the results of the blood test.
According to the physicians file, high maternal levels of serum alpha fetoprotein were
detected in the blood sample. Also, during the second month of the pregnancy, the
mother had contracted Rubella. Other than this disease, the entire pregnancy was normal.
During consultation with the parents of the infant. The head physician informs the
parents that their child will exhibit permanent paralysis. The infant will also probably
have bladder and bowel control problems, and will have to undergo surgery.
1. What is the diagnosis of this infant? Support you answer with reasoning.
2. Explain the process of what causes this deformation.
3. There are 3 forms of this defect, which one does this infant have? And list the
incidence rates of this defect.
4. What causes the high levels of maternal serum alpha fetoprotein?
5. Does the mother’s case of Rubella have any effect on this situation? Why or why
6. What types of treatments will be made available to this child?
7. Can this defect be attributed to genetics? Why or why not?