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. 2023 Nov 20;6(21):CASE23302.
doi: 10.3171/CASE23302. Print 2023 Nov 20.

Cervical corpectomy in a pediatric patient with chondrodysplasia punctata and C5 dysplasia with spinal cord compression: illustrative case

Nirali P Patel  1 , Mark W Youngblood  2   3 , Melissa A LoPresti  2   4 , Tord D Alden  2   3
Affiliations

Cervical corpectomy in a pediatric patient with chondrodysplasia punctata and C5 dysplasia with spinal cord compression: illustrative case

Nirali P Patel et al. J Neurosurg Case Lessons. .

Abstract

Background: Chondrodysplasia punctata (CDP) describes skeletal dysplasia secondary to a variety of genetic underpinnings characterized by cartilaginous stippling from abnormal calcium deposition during endochondral bone formation. Approximately 20%-38% of patients with CDP have cervical spine abnormalities, resulting in stenosis and cord compression. However, approaches to management differ among patients.

Observations: The authors present an 18-year-old male with a known history of CDP and cervical kyphosis with worsening paresthesias and increased spasticity. Imaging confirmed dysplastic C4 and C5 vertebra with focal kyphosis, bony retropulsion, spinal cord compression, and myelomalacia. To treat the stenosis and deformity, the patient underwent C4 and C5 vertebrectomies with C3 to C6 anterior fusion with resolution of symptoms.

Lessons: Despite many CDP patients having cervical deformities with spinal cord compression and associated neurological symptoms, there is a paucity of data on surgical management and outcomes. There are only scattered reports, and most authors recommend initial conservative management because of the high risk of operative morbidity and mortality secondary to comorbidities. When surgery is performed, long-term follow-up is recommended because of the high rates of progression of deformity, requiring subsequent operations. The authors hope that their experience adds to the literature describing the surgical management of cervical deformities in these patients.

Keywords: cervical stenosis; chondrodysplasia punctata; corpectomy; pediatric spine; vertebral dysplasia.

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Figures

FIG. 1
FIG. 1
Magnetic resonance imaging shows progressive cervical kyphosis and development of spinal cord edema and myelomalacia from October 2021 (A and B) to March 2023 (C and D). Preoperative sagittal (E) and axial (F) computed tomography scans demonstrate dysplastic vertebra at C4 and C5 with loss of normal cervical alignment, bony retropulsion, and focal kyphosis.
FIG. 2
FIG. 2
Intraoperative photographs showing bone noted during surgery. Left: The abnormal bone at C5 that was infiltrated with cartilaginous tissue. Right: The decompression achieved.
FIG. 3
FIG. 3
Upright radiographs, lateral (left) and anteroposterior (right) views, obtained postoperatively demonstrating appropriate interbody cage and hardware placement with the restoration of normal alignment. No immediate postoperative complications were noted.
FIG. 4
FIG. 4
Upright dynamic radiographs, flexion (left) and extension (right) views, obtained 12 weeks postoperatively, showing no dynamic instability.
See this image and copyright information in PMC

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References

    1. Irving MD, Chitty LS, Mansour S, Hall CM. Chondrodysplasia punctata: a clinical diagnostic and radiological review. Clin Dysmorphol. 2008;17(4):229–241. - PubMed
    1. Mason DE, Sanders JO, MacKenzie WG, Nakata Y, Winter R. Spinal deformity in chondrodysplasia punctata. Spine (Phila Pa 1976) 2002;27(18):1995–2002. - PubMed
    1. Vogel TW, Menezes AH. Natural history and management of cervical spine disease in chondrodysplasia punctata and coumarin embryopathy. Childs Nerv Syst. 2012;28(4):609–619. - PubMed
    1. Abousamra O, Kandula V, Duker AL, Rogers KJ, Bober MB, Mackenzie WG. Cervical spine deformities in children with rhizomelic chondrodysplasia punctata. J Pediatr Orthop. 2019;39(9):e680–e686. - PubMed
    1. White AL, Modaff P, Holland-Morris F, Pauli RM. Natural history of rhizomelic chondrodysplasia punctata. Am J Med Genet A. 2003;118A(4):332–342. - PubMed