Medical Analysis Report

1. Imaging Findings

Based on the provided imaging data, the following main features can be observed:

• Chest X-ray (Figure 1): Demonstrates abnormal thoracic cage morphology, showing signs of spinal scoliosis and a relatively narrow, elongated thorax, suggesting possible sternal deformities (e.g., pectus excavatum or pectus carinatum).
• Hand X-ray (Figure 2): Reveals long, slender fingers with elongated bones, indicating possible arachnodactyly and a higher metacarpal index.
• MRI of the lumbar spine (Figure 3): Shows enlargement of the dural sac, consistent with dural ectasia.
• Chest CT (Figure 4): Demonstrates dilation of the ascending aorta or the aortic root, suggesting a possible aneurysmal change or root dilation.

Taken together, these imaging findings strongly suggest a connective tissue disorder, which is highly consistent with the typical radiological features of Marfan syndrome.

2. Possible Diagnoses

Considering the patient is an 18-year-old male presenting with dyspnea (possibly related to thoracic cage deformity or cardiovascular involvement), chronic lower back pain, and bilateral leg numbness (possibly caused by scoliosis or dural ectasia compressing nerves), the following differential diagnoses are considered:

1. Marfan syndrome:
   • Caused by a gene mutation leading to abnormal connective tissue. Common presentations include enlargement of the ascending aorta, thoracic cage deformities, scoliosis, arachnodactyly, and dural ectasia.
   • The patient’s imaging findings—such as aortic enlargement, spinal morphology changes, and characteristic hand X-ray features—are highly consistent with this diagnosis.
2. Other connective tissue disorders (e.g., Ehlers-Danlos syndrome):
   • These can also present with skeletal abnormalities and joint hypermobility, but thoracic cage deformities and aortic root changes are generally less pronounced than in Marfan syndrome.
3. Congenital spinal or thoracic cage developmental anomalies:
   • In isolated congenital thoracic cage deformity or scoliosis, skeletal abnormalities exist but aortic root dilation and dural ectasia are less common.

3. Final Diagnosis

Based on the patient’s symptoms (dyspnea, lower back pain, leg numbness), physical characteristics (tall and thin stature, possible arachnodactyly, scoliosis), and imaging findings (aortic root enlargement, dural ectasia, distinctive hand skeletal features, thoracic cage abnormalities), combined with documented literature and the Modified Ghent Diagnostic Criteria, Marfan syndrome is the most likely final diagnosis.

To further confirm this diagnosis, genetic testing (FBN1 gene mutation screening) and dynamic cardiovascular monitoring (e.g., echocardiography) are recommended. Additionally, a detailed slit-lamp examination should be performed to evaluate for possible lens subluxation or other ocular abnormalities.

4. Treatment Plan and Rehabilitation

4.1 Treatment Plan

• Cardiovascular management: Regular monitoring of aortic root size and cardiac valve function is necessary. If the aortic root enlarges progressively or significant valve regurgitation is detected, surgical intervention (e.g., aortic root replacement or valve repair) should be considered. Beta-blockers (such as metoprolol) or angiotensin II receptor blockers can help slow the rate of aortic expansion.
• Correction of skeletal deformities: For significant thoracic cage deformities and scoliosis, follow-up with spinal or thoracic surgeons is advised. Surgical correction may be considered if necessary.
• Neurological symptom management: If dural ectasia leads to nerve compression or pain, neurosurgical evaluation is recommended. Surgical decompression or stabilization may be considered.
• Ophthalmic intervention: In cases of lens subluxation, retinal detachment, or glaucoma, patients should promptly visit an ophthalmologist for appropriate medical or surgical treatments.
• Genetic monitoring and family screening: Immediate family members should undergo genetic testing and cardiovascular examinations to identify any potential cardiac complications at an early stage.

4.2 Rehabilitation Plan and Exercise Prescription

Since patients with Marfan syndrome often have fragile skeletal and cardiovascular systems, rehabilitation should be gradual and safety-oriented, following the FITT-VP principle:

1. Frequency: Engage in low-to-moderate intensity exercise 3–5 times per week, such as walking, swimming, or low-impact stationary cycling.
2. Intensity: Maintain moderate or lower intensity (heart rate at 50–60% of the maximum) and avoid high-impact or strenuous activities (e.g., intensive running, heavy weightlifting) to reduce stress on the aorta.
3. Time: Gradually extend each session from 15 minutes up to 30 minutes or longer, based on individual tolerance.
4. Type: Favor aerobic exercises that place less stress on the joints and heart, such as swimming, brisk walking on flat surfaces, or using an elliptical machine. For severe spinal deformities, use protective training equipment under professional supervision.
5. Progression: Increase exercise duration or slightly escalate intensity within safe limits. Regularly assess cardiovascular and skeletal loads; if chest pain or significant breathing difficulty arises, cease activity immediately and seek medical advice.

In addition, incorporating core and back muscle training (e.g., limited core stability exercises and stretching routines) can help enhance spinal stability, relieve back pain, and maintain correct posture. Where thoracic cage deformity is present, appropriate respiratory muscle training should be included to improve lung function.

Disclaimer

This report is a reference analysis based solely on the provided images and information, and does not replace in-person consultations or professional medical advice. Actual treatment and rehabilitation plans must be formulated considering a complete medical history, physical examination, and further evaluations. If you have any concerns, please consult a specialist for additional examinations and treatment.