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Orthopedic problems in Lesch-Nyhan syndrome
P D Sponseller1, N U Ahn, J C Choi
1Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore, Maryland, USA.
Journal of Pediatric Orthopedics
|September 17, 1999
Summary
Lesch-Nyhan syndrome patients experience significant orthopedic issues like hip dislocations and fractures. However, orthopedic surgeries are safe and effective, yielding results comparable to those in cerebral palsy patients.
Area of Science:
- Orthopedics
- Genetics
- Metabolic Disorders
Background:
- Lesch-Nyhan syndrome is an X-linked purine metabolism disorder.
- Patients often present with severe orthopedic complications.
Purpose of the Study:
- To review orthopedic problems in Lesch-Nyhan syndrome patients.
- To evaluate the outcomes of orthopedic treatments and surgeries.
Main Methods:
- Retrospective review of nine Lesch-Nyhan syndrome patients.
- Analysis of orthopedic conditions and surgical interventions.
Main Results:
- Common issues include hip subluxation/dislocation (9/18 hips), fractures (3), autoamputation, infections (3), scoliosis, and contractures.
- Seven operated hips maintained good reduction at a 6-year follow-up.
- Orthopedic procedures were safe with satisfactory outcomes.
Conclusions:
- Lesch-Nyhan syndrome patients tolerate orthopedic surgery well.
- Successful treatment of fractures and hip issues is achievable with proper techniques.
- Awareness of heterotopic ossification and potential complications like hardware failure is crucial.