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Challenges of spine surgery in patients with chondrodysplasia punctata
Marios G Lykissas1, Peter F Sturm, Anna McClung
1*Division of Orthopaedic Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH †Department of Orthopaedic Surgery, Scottish Rite Hospital for Children, Dallas, TX ‡Department of Orthopaedic Surgery, Shriners Hospitals for Children, Chicago, IL.
Insights
Spinal deformities in Chondrodysplasia punctata (CDP) patients often require surgery, with a high rate of revision surgery, especially in females with X-linked dominant CDP. Combined anterior and posterior fusion showed better results than posterior fusion alone.
Area of Science:
- Orthopedics
- Genetics
- Pediatric Spine Surgery
Background:
- Chondrodysplasia punctata (CDP) is a heterogeneous group of disorders with limited data on spinal deformity development and management.
- Spinal deformities are a significant concern in CDP patients, impacting their long-term health and mobility.
Purpose of the Study:
- To present a multicenter case series of Chondrodysplasia punctata (CDP).
- To describe surgical outcomes for spinal deformities in CDP patients.
- To highlight key considerations for surgical treatment of spinal deformity in this population.
Main Methods:
- Retrospective review of medical records and spinal radiographs from 1975 to 2011.
- Inclusion criteria required clinical diagnosis of CDP with epiphyseal stippling on radiographs.
- Analysis of surgical interventions and outcomes for spinal deformities.
Main Results:
- 13 out of 17 CDP patients (76%) had spinal deformities, diagnosed at a mean age of 14.6 months.
- 12 patients (92%) underwent surgery, with a median follow-up of 8.4 years.
- Females with X-linked dominant CDP had higher revision rates (80% required >1 procedure); 50% revision rate for combined fusion vs. 20% for posterior fusion alone.
Conclusions:
- Spinal deformity in CDP varies, necessitating tailored treatment approaches.
- Spine surgery in CDP patients has a high incidence of revision and post-fusion curve progression.
- Combined anterior and posterior fusion appears more effective than isolated posterior fusion in reducing revision surgery rates.
Background:
Chondrodysplasia punctata (CDP) is a common manifestation of an etiologically heterogenous group of disorders. There is very little data regarding the development and management of spinal deformity in patients with CDP. The purpose of this study was to present a multicenter series of CDP, to describe the surgical outcomes of spinal deformities in CDP patients and to emphasize important considerations that may influence choice of surgical treatment of spinal deformity in this patient population.
Methods:
The medical records and spinal radiographs of patients with the diagnosis of CDP followed in 2 centers between 1975 and 2011 were retrospectively reviewed. Epiphyseal stippling was present on radiographs in all patients who fulfilled the clinical criteria.
Results:
Among the 17 patients who were diagnosed with CDP, 13 had spinal deformities. The mean age at diagnosis of spinal deformity was 14.6 months (range, 1 wk to 9 y). Males and females were close to equally represented (10 males and 7 females). Twelve patients (92%) required surgery to correct spinal deformity. Patients were followed for a median of 8.4 years (range, 2.8 to 19.5 y). The total number of surgical procedures performed was 17 averaging 1.5 per patient. Four patients required >1 procedure. Eighty percent of the patients who required >1 surgical procedure were females with probable diagnosis of X-linked dominant CDP. Revision surgery was indicated in 50% of the patients treated with combined anterior and posterior fusion and 20% of the patients treated with posterior fusion alone.
Conclusions:
Spinal deformity in CPD patients may range from significant kyphoscoliosis to minimal deformity that does not require any treatment. For those patients in whom spine surgery was indicated, a high incidence of revision surgery and curve progression after fusion was recorded. Female patients with probable diagnosis of X-linked dominant CDP were more likely to require a second surgical procedure. Isolated posterior fusion showed less favorable results compared with combined anteroposterior fusion in terms of revision surgery.
Level Of Evidence:
Level IV-therapeutic study.
