- Department of Surgery, Division of Neurosurgery, Spine Unit, Centre Hospitalier de l’Université de Montréal – Hôpital Notre-Dame, Canada
- Department of Neurosurgery, Centre Hospitalier de l’Université de Sherbrooke – Hôpital Charles-Lemoyne, Montreal, QC, Canada
Department of Surgery, Division of Neurosurgery, Spine Unit, Centre Hospitalier de l’Université de Montréal – Hôpital Notre-Dame, Canada
DOI:10.4103/2152-7806.109440Copyright: © 2013 McLaughlin N This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
How to cite this article: McLaughlin N, Weil AG, Demers J, Shedid D. Klippel–Feil syndrome associated with a craniocervico-thoracic dermoid cyst. Surg Neurol Int 22-Mar-2013;4:
How to cite this URL: McLaughlin N, Weil AG, Demers J, Shedid D. Klippel–Feil syndrome associated with a craniocervico-thoracic dermoid cyst. Surg Neurol Int 22-Mar-2013;4:. Available from: http://sni.wpengine.com/surgicalint_articles/klippel-feil-syndrome-associated-with-a-craniocervico-thoracic-dermoid-cyst/
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.
Keywords: Congenital spinal malformation, craniocervical junction, dermal sinus, dermoid cyst, Klippel–Feil syndrome
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.[
Clinical complaints and neurological findings
A 47-year-old female in good health was referred for progressive gait disturbance. At birth she had been operated for a palatal fissure and had been diagnosed with KFS at 1 year of age. Two months prior to presentation, the patient developed bilateral lower extremity paresthesias associated with progressive paraparesis.
On physical evaluation, 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. On examination she exhibited bilateral proximal paresis (4/5) in the iliopsoas and quadriceps muscles. Her motor deficit was accompanied by marked patellar hyperreflexia (4+), but without hyperactive Achilles responses (no clonus) or Babinski responses. Her sensory deficit included a loss of position and vibration appreciation in the distal lower extremities involving the ankles but not the knees, decreased superficial touch sensation in the L1-L3 distributions, and decreased pin-prick sensation on the left hemibody from the clavicle down and on the right hemibody from the lower thorax down. She also exhibited difficulty with tandem gait testing, falling to either side, while finger-nose-finger remained intact.
Plain cervical radiographs (anterolateral, Lateral) demonstrated spontaneous/congenital fusion of all vertebral bodies from C2 down to T6 associated with significant 40° thoracic kyphosis centered at T4-T5. No instability was documented on flexion-extension studies throughout her spine, notably not at occiput-C1 or C1-C2 [
Computed tomography findings
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
(a-d) Pre-operative cranio-cervico-thoracic CT scan showing a mass in the posterior fossa behind the fourth ventricle and below the cerebellum extending down behind the spinal cord to the posterior thoracic vertebra to T1. In the posterior fossa, it obstructed the foramen of Magendie, thus resulting in secondary obstructive hydrocephalus. In addition, fusion of the cervical and thoracic vertebral bodies from C2 to T6, involving the anterior spinal column and posterior elements is seen
Magnetic resonance imaging examinations
Cerebral and cervical magnetic resonance imaging (MRI) documented a craniocervical mass that measured 3.2 cm anteroposteriorly, by 8.4 cm rostrocaudally [
Pre-operative magnetic resonance imaging, T1WI sagittal (a), T2WI sagittal (b), and Stir axial (c) sections documenting an expansive midline lesion extending from the cranio-cervical junction down to T1. The dermal sinus tract, extending from the dermis to the suboccipital bone below the occipital protuberance is identified on T1WI and T2WI (arrow)
The patient underwent awake fiberoptic endotracheal intubation and prone positioning. There was no electrophysiological monitoring. During preparation of the sub-occipital region, a small dimple located below the occipital protuberance and connecting to a sinus tract during preparation of the sub-occipital region, a small dimple located below the occipital protuberance and connecting to a sinus tract was identified [
Post-operatively, the patient's motor exam was normal and her sensory exam, notably superficial touch and proprioception modalities, significantly improved. The MRI performed 4 days after surgery documented complete resection of the DC [
Klippel–Feil syndrome triad and other congenital anomalies
KFS was initially described as a triad of short neck, limited neck mobility and low posterior hairline due to the congenital fusion of two or more cervical vertebrae. The classic triad is seen in approximately 52% of patients with KFS.[
Neurological anomalies seen with KFS
Mulitple neuronal tissue anomalies have also been described in patients with KPS. These include: diastematomyelia, syringomyelia, agenesis of the corpus callosum, meningocele, cervical occult spina bifida, intramedullary lipoma, extradural hemangiolipoma.[
However, a review of the literature revealed 26 cases (including the present case) of KFS associated with DC. Together, these series include 16 females and 10 males, averaging 21.6 years of age (range 1-61 years) [
Of interest, two other cases showed DC located purely within the anterior spinal cervical canal.
Location and extend of excision of dermoid cyst in adults vs. children
The DC was located purely within the posterior fossa in 100% (n = 14) of the pediatric KPS cases compared with 66% of the DCs in the adult patients (8/12).
Complete Dc removal was achieved in 83% (20/24) of cases that detailed the extent of resection. Most patients (except two cases) did not require fusions as they did not demonstrate instability.
Several hypotheses have been suggested to explain the occurrence of DC in patients with KFS. Shortening of the cervical spine due to Klippel–Feil abnormality may result in an abnormal flexure, altering tissue tension at the craniocervical junction favoring entrapment of ectodermal elements during neural tube closure resulting in the DC.[
Uncommonly, KFS has been associated with intracranial or spinal DCs. We report a unique case of KFS in association with a posterior fossa DC that extended to the upper thoracic spine (T1).
1. Diekmann-Guiroy B, Huang PS. Klippel-Feil syndrome in association with a craniocervical dermoid cyst presenting as aseptic meningitis in an adult: Case report. Neurosurgery. 1989. 25: 652-5
2. Gonzalez-Darder JM, Feliu-Tatay R, Pesudo-Martinez JV, Vera-Roman JM. Klippel-Feil syndrome associated with posterior fossa dermoid cyst. Case report. Neurol Res. 2002. 24: 501-4
3. Hensinger RN, Lang JE, MacEwen GD. Klippel-Feil syndrome; a constellation of associated anomalies. J Bone Joint Surg Am. 1974. 56: 1246-53
4. Hinojosa M, Tatagiba M, Harada K, Samii M. Dermoid cyst in the posterior fossa accompanied by Klippel-Feil syndrome. Childs Nerv Syst. 2001. 17: 97-100
5. Kaya RA, Turkmenoglu O, Dalkilic T, Aydin Y. Removal of an anterior spinal dermoid cyst with fenestra corpectomy in Klippel-Feil syndrome: Technical case report. Neurosurgery. 2003. 53: 1230-3
6. Muzumdar D, Goel A. Posterior cranial fossa dermoid in association with craniovertebral and cervical spinal anomaly: Report of two cases. Pediatr Neurosurg. 2001. 35: 158-61
7. Nagib MG, Maxwell RE, Chou SN. Klippel-Feil syndrome in children: Clinical features and management. Childs Nerv Syst. 1985. 1: 255-63
8. Ramzan A, Khursheed N, Rumana M, Abrar W, Ashish J. Posterior fossa dermoid with klippel-feil syndrome in a child. Pediatr Neurol. 2011. 45: 197-9
9. Rish BL. Klippel-Feil syndrome: Case report. Va Med. 1982. 109: 520-1
10. Tracy MR, Dormans JP, Kusumi K. Klippel-Feil syndrome: Clinical features and current understanding of etiology. Clin Orthop Relat Res. 2004. 424: 183-90