case study # 2 (protec:ec v en ) worc Non-Commercia use) . evies View Help less
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case study # 2 (protec:ec v en ) worc Non-Commercia use) . evies View Help less you need to edit, it's safer to stay in Protected View. Enable Editing Case Study #2 A mother brings her infant daughter to the ER for evaluation. The mother stated the child was normal at birth, but started have exaggerated startle response to loud noises when the child turned six-months old. At first the child passes all of her developmental milestones which included social smiling, tracking objects in the line of sight, and sitting up without support. Over the last several days the infant had regressed so that she could not roll over or recognize her parents. The child's laboratory results came back normal. Physical exam was normal except for finding a "red spot" area in the tissue of the retina. The infant was referred further testing. 1. What is the inheritance pattern that has most likely occurred in the infant? Is there any predilection for any particular group? 2. How are the clinical symptoms classified? Explain each classification. 3. What clinical testing would be done to identify the pathology of symptoms that the infant has experienced? Explain all that apply. 4. What would be the therapeutic treatment plan that should be done for the infant? 5. Explain mechanism behind the cause the infant's symptoms and identify the name of the disease. . E ?@??e ..o «I EWLETT-PACKARDExplanation / Answer
1. The inheritance pattern is most likely autosomal recessive as both the parents are normal, but the infant is expressing a disease condition.
2. Clinical syptoms were classified as follows-
i) whether the infant showed all social behaviour which is suposed to be present at 6 moth age.
ii) whether the infant performed the activity milestone which is supposed to be present at a 6 month old infant.
iii) labortary result report and physical observation of the infant.
3. To confirm the diease a genetic test can be carried out with the DNA isolated from blood sample to identify the mutations or other possible outcome. Secondly enzyme assays can also be done to identify the causative agent behind the disease.
4. At this stage the infant can be offerd palliative care and providing comformt.
5.The symptoms of the infant point towards Tay–Sachs disease, which is a autosomal recessive disorder. In this case both of her parents should be carrier for the disease. Tay–Sachs disease generally identified at the age around 3 to 6 months and at this time the infant gradually lose the skills of turnover, sitting or crawling. The presence of red spot area in retinal tissue is one of the most prominent hallmark of Tay–Sachs disease. Lipid accumulation in retinal ganglion is responsible for such appearance, Tay–Sachs disease occurs due to a mutation in HEXA gene, which is present in chromosome no 15 and encodes a lysomal enzyme hexosaminidase A. When this enzyme is absent lipids such as sphingolipids are not breaking down properly and results in lipid accumulation in brain. In such situation normal biological responses get interrupted.
Secondly genetic testing using the DNA from blood sample can be carried out to check for the mutation in HEXA gene.
3. To onfirm
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