Craniocervical arachnoid cyst in a patient with Klippel-Feil syndrome: a unique case

Case report

Restricted access

Klippel-Feil syndrome, or brevicollis, is a complex congenital disorder caused by the improper segmentation of the cervical vertebrae. The authors present the very rare case of a patient with Klippel-Feil syndrome who presented with an intradural arachnoid cyst at the craniocervical junction. They also examine possible factors contributing to this association.

A 46-year-old woman presented with complaints of progressively worsening headaches and dizziness of 18 months' duration. She also demonstrated mild bilateral upper-extremity weakness. Magnetic resonance imaging revealed fused cervical vertebrae and a dorsal intradural arachnoid cyst at the craniocervical junction, extending down to the fourth cervical level. Because of worsening myelopathy and the presence of brainstem compression, the patient underwent surgical excision of the arachnoid cyst, which was approached via a midline posterior suboccipital/upper cervical route. An endoscope was introduced through a gap between the occiput and fused upper cervical vertebrae, and the arachnoid cyst was widely fenestrated. Postoperatively, the patient has remained symptom free for more than 2 years with evidence of good radiological decompression.

The authors report a unique association between craniocervical arachnoid cyst and Klippel-Feil syndrome. To their knowledge, no other cases of this association have been reported in the literature. Arachnoid cysts should be part of the differential diagnosis in the presence of worsening myelopathic symptoms or pain in patients with Klippel-Feil syndrome.

Article Information

Address correspondence to: Bharat Guthikonda, M.D., Department of Neurosurgery, 1501 Kings Highway, Louisiana State University Health Center-Shreveport, Shreveport, Louisiana 71130. email: bguthi@lsuhsc.edu.

Please include this information when citing this paper: published online December 14, 2012; DOI: 10.3171/2012.11.SPINE12463.

© AANS, except where prohibited by US copyright law.

Headings

Figures

  • View in gallery

    Preoperative sagittal T1-weighted (A) and T2-weighted (B) MR images depicting a craniocervical arachnoid cyst with fused cervical vertebrae.

  • View in gallery

    Postoperative sagittal T1-weighted (A) and T2-weighted (B) MR images showing good decompression of the cyst.

References

1

Akgün BKaplan MYıldırım H: Klippel-Feil syndrome with upper cervical intradural arachnoid cyst. J Pediatr Neurol 6:3813842008

2

Aksoy FGAksoy OGGomori JM: Klippel-Feil syndrome in association with posterior fossa suboccipital dermoid cyst. Eur Radiol 11:1421442001

3

Berke JPMagee KR: Craniofacial dysostosis with syringomyelia and associated anomalies. Arch Neurol 33:63651976

4

Bhatia SThakur RCDevi BIRadotra BDKak VK: Craniospinal intradural arachnoid cyst. Postgrad Med J 68:829 8301992

5

Clarke RASingh SMcKenzie HKearsley JHYip MY: Familial Klippel-Feil syndrome and paracentric inversion inv(8) (q22.2q23.3). Am J Hum Genet 57:136413701995

6

Diekmann-Guiroy BHuang PS: Klippel-Feil syndrome in association with a craniocervical dermoid cyst presenting as aseptic meningitis in an adult: case report. Neurosurgery 25:6526551989

7

Fukushima YSato MTaguchi JSasaki MKanai NHayakawa T: Craniospinal arachnoid cyst: case report. No Shinkei Geka 24:75791996

8

Gunderson CHGreenspan RHGlaser GHLubs HA: The Klippel-Feil syndrome: genetic and clinical reevaluation of cervical fusion. Medicine (Baltimore) 46:4915121967

9

Hadley MNGrahm TWDaspit CPSpetzler RF: Otolaryngologic manifestations of posterior fossa arachnoid cysts. Laryngoscope 95:6786811985

10

Hall JESimmons EDDanylchuk KBarnes PD: Instability of the cervical spine and neurological involvement in Klippel- Feil syndrome. A case report. J Bone Joint Surg Am 72:4604621990

11

Hensinger RNLang JEMacEwen GD: Klippel-Feil syndrome; a constellation of associated anomalies. J Bone Joint Surg Am 56:124612531974

12

Huang HLi YXu KLi YQu LYu J: Foramen magnum arachnoid cyst induces compression of the spinal cord and syringomyelia: case report and literature review. Int J Med Sci 8:3453502011

13

Jarvis JFSellars SL: Klippel-Feil deformity associated with congenital conductive deafness. J Laryngol Otol 88:285 2891974

14

Kaplan KMSpivak JMBendo JA: Embryology of the spine and associated congenital abnormalities. Spine J 5:5645762005

15

Kennedy PTMcAuley DJ: Association of posterior fossa dermoid cyst and Klippel-Feil syndrome. AJNR Am J Neuroradiol 19:1951961998

16

Klippel MFeil A: The classic: A case of absence of cervical vertebrae with the thoracic cage rising to the base of the cranium (cervical thoracic cage). Clin Orthop Relat Res (109) 381975

17

Kuroiwa TTakeuchi EYamada KOhta TMiyaji YOnomura T: [An intradural arachnoid cyst of the craniovertebral junction; a case report.]. No Shinkei Geka 19:109710991991. (Jpn)

18

Kutlay MQolak ADemircan NAkin O: Craniocervical junction arachnoid cyst causing hydrocephalus: case report and review of the literature. Mil Med 172:6696722007

19

McGaughran JMOates ADonnai DRead APTassabehji M: Mutations in PAX1 may be associated with Klippel-Feil syndrome. Eur J Hum Genet 11:4684742003

20

Menezes AHVogel TW: Specific entities affecting the craniocervical region: syndromes affecting the craniocervical junction. Childs Nerv Syst 24:115511632008

21

Nagib MGMaxwell REChou SN: Klippel-Feil syndrome in children: clinical features and management. Childs Nerv Syst 1:2552631985

22

Naidich TPMcLone DGRadkowski MA: Intracranial arachnoid cysts. Pediatr Neurosci 12:1121221986

23

Nolting DHansen BFKeeling JKjaer I: Prenatal development of the normal human vertebral corpora in different segments of the spine. Spine (Phila Pa 1976) 23:226522711998

24

Pego-Reigosa RBrañas-Fernández FMartínez-Vázquez FCortés-Laiño JA: Craniospinal intradural arachnoid cyst. Arch Neurol 57:1282000

25

Price SJDavid KMO'Donovan DGAspoas AR: Arachnoid cyst of the craniocervical junction: case report. Neurosurgery 49:2122152001

26

Rabb CHMcComb JGRaffel CKennedy JG: Spinal arachnoid cysts in the pediatric age group: an association with neural tube defects. J Neurosurg 77:3693721992

27

Samartzis DKalluri PHerman JLubicky JPShen FH: 2008 Young Investigator Award: The role of congenitally fused cervical segments upon the space available for the cord and associated symptoms in Klippel-Feil patients. Spine (Phila Pa 1976) 33:144214502008

28

Shukla RSharma AVatsal DK: Posterior fossa arachnoid cyst presenting as high cervical cord compression. Br J Neurosurg 12:2712731998

29

Spillane JDPallis CJones AM: Developmental abnormalities in the region of the foramen magnum. Brain 80:11481957

30

Stadnicki GRassumowski D: The association of cleft palate with the Klippel-Feil syndrome. Oral Surg Oral Med Oral Pathol 33:3353401972

31

Takanashi YMochimatsu YShyudo TYamamoto I: [A case report of an arachnoid cyst in the craniovertebral junction.]. No To Shinkei 47:68701995. (Jpn)

32

Toyoshima MMaegaki YYuasa IOhno K: Monozygotic twins discordant for Klippel-Feil syndrome. Pediatr Neurol 34:76782006

33

Tracy MRDormans JPKusumi K: Klippel-Feil syndrome: clinical features and current understanding of etiology. Clin Orthop Relat Res (424) 1831902004

34

Wang MYLevi ADOGreen BA: Intradural spinal arachnoid cysts in adults. Surg Neurol 60:49562003

35

Whittle IRBesser M: Congenital neural abnormalities presenting with mirror movements in a patient with Klippel-Feil syndrome. Case report. J Neurosurg 59:8918941983

TrendMD

Metrics

Metrics

All Time Past Year Past 30 Days
Abstract Views 45 45 5
Full Text Views 90 90 29
PDF Downloads 158 158 37
EPUB Downloads 0 0 0

PubMed

Google Scholar