What is the best course of management for a young adult with a history of congenital thoracic cage abnormality presenting with mid-back pain, left arm numbness, tingling, and difficulty with chest expansion?

Management of Young Adult with Congenital Thoracic Cage Abnormality Presenting with Mid-Back Pain and Neurological Symptoms

This patient requires immediate advanced imaging with chest x-ray and thoracic spine x-ray as planned, followed by MRI or CT to evaluate for spinal cord compression, nerve root impingement, or cardiopulmonary complications related to the thoracic cage abnormality. The combination of mid-back pain, unilateral arm paresthesias, and restricted chest expansion in a patient with known skeletal dysplasia raises concern for both neurological compromise and thoracic insufficiency.

Initial Diagnostic Evaluation

Imaging Priority

• Obtain chest radiography and thoracic spine x-rays immediately as these are first-line studies for evaluating thoracic cage abnormalities and can identify gross cardiac and mediastinal contours, pulmonary vascularity, thoracic cage anomalies, and spinal deformities 1
• Proceed to MRI of the thoracic spine if x-rays show concerning findings or if neurological symptoms persist, as MRI provides superior soft tissue detail for evaluating spinal cord compression, nerve root impingement, and associated abnormalities 1
• CT may be used as an alternative if MRI is contraindicated, though radiation exposure must be considered in this young patient 1

Specific Findings to Assess

• Evaluate for progressive spinal deformity including scoliosis, kyphosis, or vertebral anomalies (hemivertebrae, congenital bars, fused ribs) that can cause neurological compression 2, 3
• Assess thoracic cage geometry for restrictive changes that may compromise respiratory function, as severe restriction can cause respiratory insufficiency even without obvious clinical deformity 4, 5
• Look for cardiac silhouette abnormalities on chest x-ray, as congenital thoracic cage abnormalities can be associated with congenital heart disease 1, 6

Neurological Assessment Algorithm

Immediate Concerns

• The left arm numbness and tingling pattern suggests C8-T1 nerve root involvement or brachial plexus compression, which can occur from thoracic outlet syndrome related to skeletal abnormalities 3
• Difficulty with chest expansion is a red flag for either restrictive pulmonary mechanics from thoracic cage deformity or intercostal nerve dysfunction 5, 2

Clinical Examination Priorities

• Perform detailed neurological examination documenting specific dermatomal distribution of sensory changes, motor strength in hand intrinsic muscles, and reflexes 3
• Assess respiratory mechanics including chest wall excursion symmetry, respiratory rate, and oxygen saturation 1
• Palpate the thoracic spine for tenderness, step-offs, or paraspinal muscle spasm 5

Management Strategy Based on Findings

If Imaging Reveals Spinal Cord or Nerve Root Compression

• Urgent neurosurgical consultation is indicated for progressive neurological deficits or evidence of spinal cord compression 3
• Consider corticosteroids for acute spinal cord compression while awaiting definitive intervention, though this is not specifically addressed in congenital spine guidelines 3

If Thoracic Insufficiency Syndrome is Present

• Thoracic insufficiency syndrome (TIS) is defined as inability of the thorax to ensure normal breathing and can develop with severe thoracic cage deformities, particularly with costovertebral malformations 2
• Pulmonary function testing should be obtained to quantify restrictive defect if TIS is suspected 5
• Surgical enlargement of the thoracic cage may be lifesaving in severe cases where respiratory failure is imminent 4

If Associated Cardiac Abnormalities are Suspected

• Echocardiography is essential if chest x-ray shows cardiac abnormalities, as congenital thoracic cage deformities can be associated with congenital heart disease 1
• Thoracic cage deformities, particularly in conditions like Marfan syndrome, can be associated with life-threatening cardiovascular complications including aortic dissection 6

Pain Management Considerations

Conservative Management

• NSAIDs or acetaminophen are reasonable first-line options for musculoskeletal pain, though the patient did not use medication during the prior episode 5
• Physical therapy focusing on postural correction and chest wall mobility may be beneficial if structural abnormalities are not severe 5

Red Flags Requiring Escalation

• Progressive neurological deficits warrant urgent intervention regardless of pain severity 3
• Worsening respiratory symptoms or oxygen desaturation require immediate pulmonary and potentially surgical consultation 4, 2

Follow-Up and Monitoring

Short-Term

• Repeat clinical assessment within 48-72 hours if symptoms are not improving with conservative management 5
• Ensure imaging results are reviewed promptly and acted upon based on severity of findings 1

Long-Term Surveillance

• Patients with congenital thoracic cage abnormalities require ongoing monitoring for progressive deformity, particularly during growth periods, though this patient at age 21 is likely past peak growth 2
• Serial pulmonary function testing may be indicated if restrictive physiology is present 5

Critical Pitfalls to Avoid

• Do not dismiss unilateral arm paresthesias as simple musculoskeletal pain without ruling out nerve root or spinal cord compression, as delayed diagnosis can lead to permanent neurological deficit 3
• Do not overlook respiratory compromise that may be subtle initially but can progress to respiratory failure in severe thoracic cage deformities 4, 2
• Do not assume the congenital abnormality is isolated to the skeleton—screen for associated cardiac and pulmonary abnormalities 1, 6
• Recognize that difficulty with chest expansion is not normal and requires thorough evaluation for both mechanical restriction and neurological causes 5, 2