Case Study: Klippel-Feil Syndrome

Patient Information:

Name: Sarah Johnson

Age: 27 years

Gender: Female

Date of Admission: 25,6,2022

Admitting Physician: Dr. Emily Anderson

Presenting Complaints:

Sarah Johnson presented to the clinic with complaints of severe neck pain, limited neck movement, and persistent headaches. She reported these symptoms had been progressively worsening over the past three months.

History of Presenting Complaints:

The patient described her neck pain as a dull, constant ache that radiated into her shoulders. She noted that her headaches were mainly located at the base of her skull and had become increasingly frequent. Sarah reported that her neck movement had become significantly restricted, making it difficult for her to perform daily activities, such as driving and turning her head to check blind spots.

Chief Complaints:

Severe neck pain

Limited neck movement

Persistent headaches

Past Medical and Surgical History:

Sarah had no significant past medical or surgical history.

Family History:

No known family history of Klippel-Feil syndrome or similar congenital disorders.

Socioeconomic Status:

The patient is employed as a teacher and has private health insurance.

Present and Pre-morbid Functional Status:

Prior to the onset of her symptoms, Sarah was an active individual, regularly participating in recreational sports and maintaining a physically active lifestyle. However, her current symptoms have significantly impaired her functional status.

General Health Status:

Sarah’s general health was previously excellent, with no chronic medical conditions.

Vitals:

Blood Pressure:128/85

Heart Rate: 75

Respiratory Rate: 18

Temperature: 98

Aggravating Factors:

Neck movements

Prolonged sitting or standing

Stress

Easing Factors:

Rest

Application of ice to the neck

Examination:

Neck: Limited range of motion, muscle stiffness, tenderness on palpation, no signs of skin abnormalities.

Neurological: No motor or sensory deficits.

Posture: Forward head posture, elevated right shoulder.

Spinal Curve: Loss of cervical lordosis.

Upper Limbs: No neurological deficits, normal strength, and reflexes.

Lower Limbs: Normal neurological findings.

Sleep and 24-hour Pattern:

Sarah reported disrupted sleep due to her neck pain and headaches, leading to poor sleep quality.

Duration of Current Symptoms:

Approximately 3 months.

Mechanism of Injury/Current Symptoms:

No specific injury reported. Symptoms have gradually progressed.

Progression Since the Current Episode:

Symptoms have worsened over time, impacting her daily life more severely.

Significant Prior History:

No significant prior history of neck pain or musculoskeletal issues.

Previous Treatment:

The patient tried over-the-counter pain relievers with minimal relief.

She consulted a chiropractor briefly, which provided temporary relief but did not address the underlying issue.

Diagnostic Tests/Imaging:

X-ray: Showed fusion of multiple cervical vertebrae, consistent with Klippel-Feil syndrome.

MRI: To assess soft tissue involvement and rule out any cord compression.

Differential Diagnosis:

Cervical spondylosis

Cervical disc herniation

Cervical myofascial pain syndrome

Postural Observation:

Forward head posture and elevated right shoulder.

Precautions and Contraindications:

Avoidance of high-impact activities

Gentle mobilization techniques due to the risk of instability

Functional Movement Analysis (Sign):

Limited cervical range of motion

Impaired neck stability

Quick Screening Tests/Clearing of Additional Joint Structures:

Shoulder and upper limb neurovascular assessment – no abnormalities detected.

Range of Motion (ROM):

Limited cervical spine range of motion in all directions.

Special Tests:

None reported at this stage.

Assessment:

Klippel-Feil Syndrome

Cervical myofascial pain syndrome

Forward head posture

Problem List/Complaints:

Severe neck pain and limited range of motion.

Persistent headaches.

Forward head posture and elevated right shoulder.

Treatment:

Pain management with non-steroidal anti-inflammatory drugs (NSAIDs) as needed.

Physical therapy for cervical spine mobilization and strengthening exercises.

Postural correction exercises.

Education on ergonomic principles and lifestyle modifications.

Cervical collar for short-term pain relief and support.

Prognosis:

The prognosis for managing Sarah’s symptoms and improving her functional status is favorable with proper physical therapy and lifestyle modifications.

Goals:

Reduce neck pain and improve range of motion.

Decrease the frequency and intensity of headaches.

Correct posture and prevent further progression of Klippel-Feil-related issues.

Interventions:

Physical therapy sessions twice a week for six weeks.

Home exercises and stretches for daily practice.

Ergonomic assessment and modifications at work and home.

Patient Education:

Education on Klippel-Feil syndrome, its implications, and management strategies.

Proper posture and body mechanics.

Importance of compliance with physical therapy exercises.

Patient/Family Education:

Family members educated about Klippel-Feil syndrome, its hereditary nature, and the need for ongoing support and encouragement.

Discharge Plan:

Gradual return to work and normal activities with ongoing physical therapy.

Regular follow-up appointments with Dr. Anderson.

Patient instructed to contact the clinic in case of worsening symptoms or new issues.

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