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Congenital cervical kyphosis in an infant with Ehlers-Danlos syndrome

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Abstract

Background

Ehler-Danlos syndome (EDS) refers to a group of heritable connective tissue disorders; rare manifestations of which are cervical kyphosis and clinical myelopathy. Surgical treatment is described for the deformity in the thoracolumbar spine in adolescents but not for infantile cervical spine. Internal fixation for deformity correction in the infantile cervical spine is challenging due to the diminutive size of the bony anatomy and the lack of spinal instrumentation specifically designed for young children. We describe the first case of successful surgical treatment in an infant with a high cervical kyphotic deformity in EDS.

Case presentation

A 15-month-old female with EDS presented with several months of regression in gross motor skills in all four extremities. Imaging demonstrated 45° of kyphosis from the C2–4 levels with spinal cord compression. Corrective surgery consisted of a C3 corpectomy and C2–4 anterior fusion with allograft block and anterior fixation with dual 2 × 2 hole craniofacial miniplates, supplemented by C2–4 posterior fusion using four craniofacial miniplates fixated to the lamina. Radiographs at 20 months post-surgery demonstrated solid fusion both anteriorly and posteriorly with maintenance of correction.

Conclusions

Ehlers-Danlos syndrome may present in the pediatric population with congenital kyphosis from cervical deformity in addition to the more commonly seen thoracolumbar deformities.

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Authors and Affiliations

  1. Department of Neurological Surgery, Montefiore Medical Center and Albert Einstein College of Medicine, 3316 Rochambeau Avenue, First Floor, Bronx, NY, 10463, USA

    Andrew J. Kobets

  2. Department of Orthopedic Surgery, Maimonides Medical Center, 4802 Tenth Avenue, Brooklyn, NY, 11219, USA

    Daniel Komlos & John K. Houten

  3. Department of Neurosurgery, Hofstra Northwell School of Medicine, 500 Hofstra Blvd, Hempstead, NY, 11549, USA

    John K. Houten

  4. Department of Neurosurgery, Maimonides Medical Center, 4802 Tenth Avenue, Brooklyn, NY, 11219, USA

    John K. Houten

Authors
  1. Andrew J. Kobets
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  2. Daniel Komlos
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  3. John K. Houten
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Corresponding author

Correspondence to John K. Houten.

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There is no conflict of interest to report.

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Informed consent was obtained for the study subject and the study followed the institute’s committee on human research protocols.

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Kobets, A.J., Komlos, D. & Houten, J.K. Congenital cervical kyphosis in an infant with Ehlers-Danlos syndrome. Childs Nerv Syst 34, 1411–1415 (2018). https://doi.org/10.1007/s00381-018-3750-9

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  • DOI: https://doi.org/10.1007/s00381-018-3750-9

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