PHAR 6130 Group Number:
Active Learning Exercise: Cholesterol Metabolism
For the following case, you will work in your groups for the second hour of the class and prepare and answer the questions at the end of the exercise. Please only hand in one assignment for the group.
A fifteen-month old infant girl named Anna (shown below) is brought into the clinic. You immediately notice her distinctive facial features. Her parents, Jozef and Mária Horváth, brought Anna in immediately because she recently suffered a seizure. From observing Hannah, you notice she has not yet learned how to walk and doesn’t say any words. The parents confirm that Anna is not doing the things her two older brothers did when they were at her age. They comment that Anna always seems tired, but they have attributed it to her lack of interest in eating.
You take her measurements and find she weighs 8.1 kg and is 63 cm tall. You measure her head circumference and find it is 45 cm.
You send out a blood sample for a CBC (complete blood count), BMP (basic metabolic panel) and thyroid panel. You also order a total cholesterol test. The results show that Anna has a low level of total cholesterol in her plasma.
During your examination, you notice that the second and third toes on Anna’s feet are conjoined.
1) What is your initial diagnosis of Anna?
2) What test(s) would you order to confirm your diagnosis?
3) What treatment(s) would you recommend?
4) What is your prognosis for Hannah?
5) What type of genetic testing/counseling would you recommend?
6) Does the family’s last name have any special relevance?