Case study #4Miguel is a 15-year-old male who presents for a sports physical. He is a healthy adolescent with no complaints. He plays basketball. He is 6 feet 5 inches tall and weighs 198 pounds. You note long arms andlong thin fingers. He has joint laxity in his wrists, shoulders, and elbows.Explain differential diagnosis: Loeys-Dietz syndrome (LDS)- Individuals diagnosed with Marfan syndrome (MFS) exhibit several findings not found in LDS patients. These include: ectopia lentis (dislocation of the lens of the eye) and dolichostenomelia (prominently long limbs). Individuals with LDS tend to have a more translucent quality to their skin, allowing veins to be easily visible. Abnormal scarring and easy bruising also may occur to a greater degree in individuals with LDS (Loeys-Dietz Syndrome Foundation, 2018).Erdheim deformity-Flask-like root dilation of the aortic root as in Marfan syndrome, but no eye or musculoskeletal findings or family history.Identify the primary diagnosis and rational and explain unique characteristics: Marfan syndrome often causes problems in the bones and joints, and these are often the features that first lead a person to suspect Marfan syndrome. These features happen when bones grow extra-long or become stretchy like loose rubber bands. Marfan syndrome can affect many different parts of the body, as well. Features of the disorder are most often found in the heart, blood vessels, bones, joints, and eyes. Some Marfan features for example, aortic enlargement can be life-threatening. The lungs, skin and nervous system may also be affected (Marfan Foundation, 2014).Marfan finding include tall, long limbs, connective tissue problems, including pectus deformities, and joint hyperextensibility (Burns et al, 2017). List treatment and management strategies that you will use to including appropriate doses: there is no cure for Marfan syndrome, treatment focuses on preventing the various complications of the disease. Specific exam(s): Echocardiogram to check the heart valves and the size of the aorta. Other heart-imaging options include computerized tomography (CT) scans and magnetic resonance imaging (MRI). Eye exams and genetic testing is recommended. Tests, cultures, lab work: FBN1, CBCPrescriptions(s): at this visit I don’t think any medication is needed until proper tests have been done andreferrals sent to the necessary physicians.
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- Spring '18
- Marfan syndrome, Loeys-Dietz syndrome, suspect Marfan syndrome