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Published on: September 20, 2018
Young adult with Gorham's disease presenting in an emergency department: a case report
Markku Grönroos1, Ari Palomäki2,3
1Department of Emergency Medicine, Central Hospital of Kanta-Häme, Ahvenistontie 20, 13530, Hämeenlinna, Finland. markku.gronroos@khshp.fi.
Insights
Gorham's disease, a rare bone disorder, can be challenging to diagnose in the Emergency Department. Early diagnosis and surgical intervention led to a good outcome for a young patient with this condition.
Area of Science:
- Orthopedics
- Rare Diseases
- Musculoskeletal Disorders
Background:
- Gorham's disease is a rare condition causing progressive bone resorption.
- Diagnosis is often delayed due to its rarity, especially in emergency settings.
- Most reported cases occur before age 40.
Observation:
- A 23-year-old male presented with lower limb weakness and sensory loss.
- Imaging revealed thoracic vertebral and rib resorption, kyphosis, and spinal stenosis.
- Biopsy confirmed Gorham's disease.
Findings:
- The patient underwent spinal decompression and fusion (spondylodesis).
- Initial recovery was positive following surgical management.
- The exact cause of Gorham's disease remains unknown.
Implications:
- Highlights the importance of considering rare diseases in emergency diagnostics.
- Demonstrates the potential for positive outcomes with timely surgical intervention.
- Emphasizes the need for further research into Gorham's disease etiology.
Introduction:
Gorham's disease is a very rare musculoskeletal disorder characterized by progressive resorption of one or more skeletal bones. Most of the 200 cases reported earlier are diagnosed before the age of 40 years. Due to rarity, the diagnosis of Gorham's disease in the Emergency Department may be very difficult.
Case Presentation:
We report a case of Gorham's disease. A 23-year old Caucasian man presented to the Emergency Department with a significant loss of power and sensation of the lower limbs and lower torso. Clinical examination, computed tomography, and magnetic resonance imaging revealed resorption of the ribs and vertebrae, severe kyphosis, and spinal stenosis in the thoracic area. The patient underwent several surgical procedures, including spondylodesis and decompression, and made a good initial recovery. Biopsy confirmed the diagnosis of Gorham's disease.
Conclusion:
We present a young man with Gorham's disease visiting the Emergency Department. After the proper diagnosis and treatment, our patient had good outcome, although the etiology of this rare disease is uncertain.
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