Andrew J Kobets1, Daniel Komlos2, John K Houten3,4,5. 1. Department of Neurological Surgery, Montefiore Medical Center and Albert Einstein College of Medicine, 3316 Rochambeau Avenue, First Floor, Bronx, NY, 10463, USA. 2. Department of Orthopedic Surgery, Maimonides Medical Center, 4802 Tenth Avenue, Brooklyn, NY, 11219, USA. 3. Department of Orthopedic Surgery, Maimonides Medical Center, 4802 Tenth Avenue, Brooklyn, NY, 11219, USA. jkhmd@yahoo.com. 4. Department of Neurosurgery, Hofstra Northwell School of Medicine, 500 Hofstra Blvd, Hempstead, NY, 11549, USA. jkhmd@yahoo.com. 5. Department of Neurosurgery, Maimonides Medical Center, 4802 Tenth Avenue, Brooklyn, NY, 11219, USA. jkhmd@yahoo.com.
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.
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.