Question

A 12-year-old girl is brought to the physician by her parents, who are concerned about her loss of interest in playing sports at school. During a recent competition, she walked off the field in the middle of the game, complaining about the pain in her legs. The patient has no other medical conditions and takes no medications. Her vaccination schedule is up-to-date. Physical examination shows pulsatile vessels within the intercostal spaces and diminished femoral pulses relative to brachial pulses. This patient's symptoms are most likely associated with which of the following conditions?

Option 1: DiGeorge syndrome
Option 2: Down syndrome
Option 3: Friedreich ataxia
Option 4: Kartagener syndrome
Option 5: Marfan syndrome
Option 6: Tuberous sclerosis
Option 7: Turner syndrome

Answer 1

The most likely condition associated with the given symptoms is Turner syndrome, a chromosomal disorder in females that can include congenital heart defects such as coarctation of the aorta.

Step-by-step explanation:

The symptoms and physical examination findings of diminished femoral pulses relative to brachial pulses and pulsatile vessels within the intercostal spaces in the 12-year-old girl are highly suggestive of a condition called coarctation of the aorta. It is not directly listed in the given options, but the condition most closely associated with these findings that is listed among the options is Turner syndrome (Option 7). Turner syndrome is a chromosomal disorder in females characterized by the absence of all or part of a second sex chromosome. It can present with various congenital heart defects, including coarctation of the aorta, leading to symptoms such as leg pain due to decreased blood flow during exercise. The patient's lack of interest in sports could be related to the discomfort or pain she experiences due to this cardiovascular issue.