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Clinical Cases for Exam 11.) 20-year-old male presents with anemia, hepatomegaly, splenomegaly, thrombocytopenia, nose bleed, and bruising. A test of peripheral leukocytes reveals a deficiency of glucocerebrosidase enzyme. What is the most likely diagnosis and treatment?2.) Upon studying the karyotype of a 15-year-old male, it was found that he had an extra X-chromosome due to a nondisjunction event that occurred during development. What kind of disorder/disease/syndrome would this patient have? What kinds of signs/symptoms can we predict this patient will suffer from? What is the best treatment?3.) A 6-month-old male infant presents with mental retardation, muscle spasms, ataxia, vision loss, and a cherry red spot on the eye was noted upon examination. The child was also found to have low levels of the enzyme “HEX A”, which is used to break down ganglioside GM2. What is the most likely diagnosis and treatment?4.) 14-year-old female goes to her primary care physician because her mother is worried about her short stature and lack of secondary sex characteristics. She was found to have low estrogen levels. Upon cardiovascular imaging, the patient was found to have a narrowing of the aorta known as coarctation of aorta. How should the physician treat this patient?5.) 64-year-old male presents to your office with persistent headaches, insomnia, slight loss of vision, and frequent thirst and desire to urinate. He also has a tingling sensation in his right foot. What test would you run next?6.) A 9-month-old infant girl presents with neurological disorders, seizure, hepatomegaly, splenomegaly, strabismus and failure to thrive. A test of peripheral leukocytes reveals a deficiency of glucocerebrosidase enzyme. What is the most likely diagnosis and treatment?7.) A 1-month-old female infant is found to have a mutation of the gene on chromosome 7 that encodes for CFTR. What kind of disease might the child have? What kinds of signs/symptoms can we predict the child might suffer from? What is the best treatment?8.) A 20-year-old male presents with fatigue, sluggishness, muscle weakness, and sleepy looking eyes. It is found that the patient has a deficiency of nicotinic acetyl choline receptors. What is the diagnosis? What is the treatment?9.) 7-year-old girl presents with frequent thirst, fatigue, and frequent urination, and irritability. What test would you run next?10.) 8-year-old male presents with abnormally long, thin fingers, abnormally long limbs, and heart murmurs (indicating an issue with a heart valve). Genetic testing reveled the patient has a defect in the fibrillin-1 gene on chromosome 15. What is the most likely diagnosis and treatment?11.) Upon routine newborn testing, it was found that a 3-week-old baby boy has a lack of galactose-1-phosphate uridyl transferase. What is the diagnosis? What is the treatment? What would be some of his symptoms if left untreated?12.) A 9-month-old male infant has a cold. His parents are doing everything they can to get him well but he still keeps crying from the pain. The parents can not figure out where it is coming from. The mother starts blaming the father for bringing germs home from work. The father says the baby is simply crying because he inherited the “pain in the ass” gene from his mother. They bring the child back to the pediatrician where it is found that the child has inflammation of the middle ear. What is the most likely diagnosis? What is the best treatment? ................
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