Top

Journal of Medical Case Reports

Published in:

Open Access 01-12-2015 | Case report

Malignant teratoma in Klippel–Feil syndrome: a case report and review of the literature

Authors: A. Adorno, C. Alafaci, F. Sanfilippo, D. Cafarella, M. Scordino, F. Granata, G. Grasso, F M Salpietro

Published in: Journal of Medical Case Reports | Issue 1/2015

Abstract

Introduction

Klippel–Feil syndrome is characterized by a congenital fusion of cervical vertebrae. Intracranial teratomas are nongerminomatous germ cell tumors and they account for 0.3 to 0.9% of all intracranial tumors. Teratomas with malignant transformation refer to lesions which give rise to malignant cancer of somatic type. The association between tumors of dermoid origin and Klippel–Feil malformation is extremely rare. Only 23 other cases have so far been reported, and only one case of dermoid tumor with areas of dedifferentiation on squamous cell carcinoma has been described.

Case presentation

We report the case of a 72-year-old white man with a 2-year history of gait and balance disturbances. A brain magnetic resonance imaging revealed a fourth ventricle neoplastic process with infiltrative features. He was operated through a suboccipital craniectomy with a C1 laminotomy and bilateral vertebral artery transposition. At 6-months follow-up, magnetic resonance imaging showed an early regrowth of the fourth ventricle tumor, with the same radiological features.

Conclusions

Patients with Klippel–Feil malformation could develop posterior fossa dermoid tumors. The malignant potential of such tumors must be considered and surgery is recommended. Particular attention must be focused on the histopathological analysis in order to identify possible foci of malignant transformation.

Thomsen MN, Schneider U, Weber M, Johannisson R, Niethard FU. Scoliosis and congenital anomalies associated with Klippel-Feil syndrome types I-III. Spine. 1997;22(4):396–401.CrossRefPubMed

Arseni C, Danaila L, Nicola N, Georgian M, Istrati C. Intracranial teratomas. Acta Neurochir. 1969;20(1):37–51.CrossRefPubMed

Alagappan A, Shattuck KE, Rowe T, Hawkins H. Massive intracranial immature teratoma with extracranial extension into oral cavity, nose, and neck. Fetal Diagn Ther. 1998;13(5):321–4.CrossRefPubMed

Matsutani M, Sano K, Takakura K, Fujimaki T, Nakamura O, Funata N, et al. Primary intracranial germ cell tumors: a clinical analysis of 153 histologically verified cases. J Neurosurg. 1997;86(3):446–55. doi:10.3171/jns.1997.86.3.0446.CrossRefPubMed

Maccarty CS, Leavens ME, Love JG, Kernohan JW. Dermoid and epidermoid tumors in the central nervous system of adults. Surg Gynecol Obstet. 1959;108(2):191–8.PubMed

Caldarelli M, Massimi L, Kondageski C, Di Rocco C. Intracranial midline dermoid and epidermoid cysts in children. J Neurosurg. 2004;100(5 Suppl Pediatrics):473–80. doi:10.3171/ped.2004.100.5.0473.PubMed

Dickey W, Hawkins SA, Kirkpatrick DH, McKinstry CS, Gray WJ. Posterior fossa dermoid cysts and the Klippel-Feil syndrome. J Neurol Neurosurg Psychiatry. 1991;54(11):1016–7.CrossRefPubMedPubMedCentral

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(4):652–5.CrossRefPubMed

Hinojosa M, Tatagiba M, Harada K, Samii M. Dermoid cyst in the posterior fossa accompanied by Klippel-Feil syndrome. Childs Nerv Syst. 2001;17(1-2):97–100.CrossRefPubMed

10.

Kennedy PT, McAuley DJ. Association of posterior fossa dermoid cyst and Klippel-Feil syndrome. AJNR Am J Neuroradiol. 1998;19(1):195. discussion 6.PubMed

11.

Muzumdar D, Goel A. Posterior cranial fossa dermoid in association with craniovertebral and cervical spinal anomaly: report of two cases. Pediatr Neurosurg. 2001;35(3):158–61. doi:50412.

12.

Pai VV, Lowe LH, Castillo M, Huang BY, Shao L. Posterior fossa dermoid cysts in association with Klippel-Feil syndrome: report of three cases. AJNR Am J Neuroradiol. 2007;28(10):1926–8. doi:10.3174/ajnr.A0711.CrossRefPubMed

13.

Ramzan A, Khursheed N, Rumana M, Abrar W, Ashish J. Posterior fossa dermoid with Klippel-Feil syndrome in a child. Pediatr Neurol. 2011;45(3):197–9. doi:10.1016/j.pediatrneurol.2011.05.005.CrossRefPubMed

14.

Whittle IR, Besser M. Congenital neural abnormalities presenting with mirror movements in a patient with Klippel-Feil syndrome. Case report. J Neurosurg. 1983;59(5):891–4. doi:10.3171/jns.1983.59.5.0891.CrossRefPubMed

15.

Oertel J, Piek J, Muller JU, Vogelgesang S, Warzok R, Gaab RM. Posterior fossa squamous cell carcinoma due to dedifferentiation of a dermoid cyst in Klippel-Feil syndrome case illustration. J Neurosurg. 2002;97(5):1244. doi:10.3171/jns.2002.97.5.1244.CrossRefPubMed

16.

Gardner WJ. Klippel-Feil syndrome, iniencephalus, anencephalus, hindbrain hernia and mirror movements: overdistention of the neural tube. Childs Brain. 1979;5(4):361–79.PubMed

17.

Sato T, Joyner AL. The duration of Fgf8 isthmic organizer expression is key to patterning different tectal-isthmo-cerebellum structures. Development. 2009;136(21):3617–26. doi:10.1242/dev.041210.CrossRefPubMedPubMedCentral

18.

Jagani Z, Mora-Blanco EL, Sansam CG, McKenna ES, Wilson B, Chen D, et al. Loss of the tumor suppressor Snf5 leads to aberrant activation of the Hedgehog-Gli pathway. Nat Med. 2010;16(12):1429–33. doi:10.1038/nm.2251.CrossRefPubMed

19.

Bi WL, Bannykh SI, Baehring J. The growing teratoma syndrome after subtotal resection of an intracranial nongerminomatous germ cell tumor in an adult: case report. Neurosurgery. 2005;56(1):188.CrossRefPubMed

Title: Malignant teratoma in Klippel–Feil syndrome: a case report and review of the literature
Authors: A. Adorno
C. Alafaci
F. Sanfilippo
D. Cafarella
M. Scordino
F. Granata
G. Grasso
F M Salpietro
Publication date: 01-12-2015
Publisher: BioMed Central
Published in: Journal of Medical Case Reports / Issue 1/2015
Electronic ISSN: 1752-1947
DOI: https://doi.org/10.1186/s13256-015-0700-y

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Malignant teratoma in Klippel–Feil syndrome: a case report and review of the literature

Abstract

Introduction

Case presentation

Conclusions

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Introduction

Case presentation

Conclusions

Please log in to get access to this content

Other articles of this Issue 1/2015

Recurrent intestinal intussusception in an adult due to intestinal pseudopolyps not associated with inflammatory bowel disease: a case report

Malignant renal epithelioid angiomyolipoma associated with abdominopelvic hydatid cysts: a case report

Red eyes presenting with a fistulous lesion in the left lower extremity: a case report

Aortopulmonary collateral artery in prenatal exposure to carbamazepine – endovascular therapy and technical considerations: a case report

Retraction Note: Novel two-stage surgical treatment for Cantrell syndrome complicated by severe pulmonary hypertension: a case report

Parainfectious encephalomyeloradiculitis associated with bacterial meningitis: a case report