Cervical disc prolapse in childhood associated with Klippel-Feil syndrome

Abstract

Klippel-Feil syndrome is characterized by a variable degree of congenital fusion of the cervical spine. It can exist in association with other mesodermal deformities affecting several systems. Symptomatic cervical disc prolapse in the context of the syndrome is well documented in young adults. We present a case of a 5-year-old girl with the syndrome, who presented with mild motor developmental delay and cervical cord compression from a prolapsed C3/4 intervertebral disc, seen on MR scan. She also had posterior elements fused from C-2 to C-4. She improved after cervical discectomy. The presence of degenerative disc disease at such a young age and at a level mechanically protected by posterior element fusion indicates a congenital primary defect, rather than mechanical stress fatigue.

Symptomatic Cervical Disc Herniation in a Pediatric Klippel-Feil Patient

“…Furthermore, such motion at nonfused levels could increase as less motion segments are available. 12,20 Several authors have discussed the notion of the presence of a congenital primary defect in the central nervous system of KFS patients that predisposes the disc to accelerated changes in contrast to mechanical fatigue often associated with normal cervical spine patients with disc degeneration or disc herniations. 3,[12][13][14] In addition, various reports have also underlined the increased risk of degenerative changes at the level of a nonfused cervical segment in KFS, 11,13 whereas others persisted that such changes develop in regions other than hypermobile segments.…”

“…Thus, hypermobility of the nonfused cervical segment adjacent to a fused KFS construct is a concern that could contribute to undesirable instability and potential injury to neural elements. 16,20,21 In a report by Allsopp et al, a 5-year-old KFS girl with no previous noted traumatic event, presented with a symptomatic prolapsed disc at C3-C4 causing cord compression. 19 According to a study by Guille et al evaluating 22 adult KFS patients, 72.7% were noted as having cervical disc protrusions.…”

“…3,[12][13][14] In addition, various reports have also underlined the increased risk of degenerative changes at the level of a nonfused cervical segment in KFS, 11,13 whereas others persisted that such changes develop in regions other than hypermobile segments. 20 Their patient had a posterior element fusion from C2-C4 and was operatively treated with an anterior cervical discectomy without the use of an interbody graft. 11 In an assessment of 24 adult and pediatric KFS patients, Ulmer et al noted a herniated cervical disc in 15.8% of adult patients and none in pediatric patients.…”

Anterior approach to the subaxial cervical spine in children: a brief review

“…Allsopp, et al, 1 described the case of a child who had experienced cervical myelopathy for 1 year secondary to C3-4 disc herniation, with subsequent spinal cord compression. The child underwent C3-4 ACDF with autograft fusion, and had excellent results at the 1-year follow-up visit.…”

Clinical, Genetic and Environmental Factors Associated with Congenital Vertebral Malformations

“…MRI findings have revealed degenerative changes in the disc in 100% of patients studied (n = 22); however, there are no studies which delineate the progression of degenerative changes, which presumably could begin during childhood [Guille et al, 1995]. While cervical degenerative disk disease is not present in every child, in some children it may be evident at an early age [Ulmer et al, 1993;Allsopp et al, 2001]. The cause(s) for this are not known and a primary defect of formation has been postulated [Ulmer et al, 1993].…”