Klippel-Feil syndrome associated with a craniocervico-thoracic dermoid cyst

Daniel Shedid,Nancy Mclaughlin,Alexanderg Weil,Jacques Demers

doi:10.4103/2152-7806.109440

Daniel Shedid, Nancy Mclaughlin + Show 2 more

Open Access

https://doi.org/10.4103/2152-7806.109440

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Abstract

Background:Uncommonly, Klippel–Feil syndrome (KFS) has been associated with intracranial or spinal tumors, most frequently dermoid or epidermoid cysts. Although the associated dermoid cyst (DC) is usually located in the posterior fossa, isolated upper cervical DC has been reported. Extension from the posterior fossa to the upper cervical spine (C2) has been reported once. We report a rare case of KFS in association with a posterior fossa DC that extended down to the upper thoracic spine and review the current literature.Case Description:A 47-year-old female with presented cervical myelopathy related to a cranio-cervico-thoracic DC in association with KPS-related cervicothoracic fusion (C2-T6) and thoracic kyphosis. The patient underwent complete tumor resection following sub-occipital craniectomy and C1-C4 cervical laminectomy. The patient exhibited complete resolution of symptoms with no tumor recurrence and no deformity at 6-year follow-up.Conclusion:DC should be added to the list of congenital central nervous system abnormalities, which should be sought in patients with KFS. Therefore, the presence of a cystic lesion in the posterior fossa, the craniocervical junction or the anterior cervical spine should suggest the possibility of a DC in patients with KFS. In cases of cranio-cervical DC, the tumor may extend quite far down the spinal column (reaching the thoracic spine), as demonstrated in the present case.

Highlights

Klippel–Feil syndrome (KFS) has been associated with intracranial or spinal tumors, most frequently dermoid or epidermoid cysts
Klippel–Feil syndrome (KFS) is a congenital spinal malformation characterized by the failure in segmentation of two or more cervical vertebrae due to an abnormal division of the mesodermal somites.[2,4,6,10]
Dermoid cyst (DC) development is thought to result from entrapment of dermal elements and their appendages within the closing neural tube, which occurs during the same period as somite development.[7,10]

Summary

Conclusion

DC should be added to the list of congenital central nervous system abnormalities, which should be sought in patients with KFS. The presence of a cystic lesion in the posterior fossa, the craniocervical junction or the anterior cervical spine should suggest the possibility of a DC in patients with KFS. The patient had a short webbed neck, a low occipital hairline, and restricted neck mobility She did not report any symptoms and did not present any neurological deficits in her upper extremities. Computed tomography (CT) of the head, cervical, and thoracic spine confirmed congenital Klippel–Feil fusion of the cervical and thoracic vertebral bodies from C2 to T6, involving the anterior spinal column and posterior elements which were fused ‘en bloc’ [Figures 2 and 3]. The patient is doing very well, and remains symptom-free, without evidence of deformity on plain radiographs [Figure 8] or tumor recurrence on follow-up MRIs studies [Figure 9]

Findings

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CONCLUSION