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Year : 2001  |  Volume : 49  |  Issue : 2  |  Page : 210-2

Posterior fossa dermoid in association with Klippel-Feil syndrome--a short report.

Department of Neurosurgery, Postgraduate Institute of Medical Education and Research, Chandigarh, 160 012, India.

Correspondence Address:
Department of Neurosurgery, Postgraduate Institute of Medical Education and Research, Chandigarh, 160 012, India.

  »  Abstract

A posterior fossa dermoid cyst in association with the Klippel-Feil syndrome, in a 4 year old child is reported. Early diagnosis to prevent complications like neural compression, cyst rupture and staphylococcal meningitis justifies investigation for posterior fossa dermoids in cases of Klippel-Feil syndrome. Their embryological basis is discussed.

How to cite this article:
Sharma M S, Sharma B S, Yadav A, Khosla V K. Posterior fossa dermoid in association with Klippel-Feil syndrome--a short report. Neurol India 2001;49:210

How to cite this URL:
Sharma M S, Sharma B S, Yadav A, Khosla V K. Posterior fossa dermoid in association with Klippel-Feil syndrome--a short report. Neurol India [serial online] 2001 [cited 2022 Sep 26];49:210. Available from: https://www.neurologyindia.com/text.asp?2001/49/2/210/1257

   »   Introduction Top

Dermoid cyst of the CNS is an entity constituting 0.04 to 0.7% of all primary intracranial tumours.[1] The Klippel-Feil syndrome has been reported to be associated with cardiac and central nervous system anomalies. Documented CNS anomalies include diastematomyelia, syringomyelia, and agenesis of the corpus callosum.[2] There are only 9 cases of posterior fossa dermoid cysts associated with the Klippel-Feil syndrome reported in literatures.[3] One such case is being reported.

   »   Case report Top

A 4 year old male child, a full term uneventful breech delivery, was born with a head tilt to the left. He subsequently developed periodic, self-limiting, febrile episodes with vomiting, since the age of 3 months. His parents noticed a pea-sized midline occipital lump which was excised at a local hospital at the age of one year; following which the febrile episodes ceased. His mother had received a full course of anti-tuberculosis therapy for pulmonary Kochs a year before his birth. His four elder female siblings were normal. Three years later, in July 1998 he experienced similar complaints with remissions and exacerbations. On examination the child was irritable, small for his age, with a head tilt to the left, neck stiffness and restricted mobility. Neurological examination revealed bilateral early papilloedema, truncal ataxia and difficulty in sitting upright. His skull circumference corresponded to the second percentile. A well healed 6 cm transverse occipital scar and a right sided preauricular skin tag were seen.
Haematological investigations and chest roentgenogram were normal. The cervical spine skiagram revealed fused second and third cervical vertebrae with scoliosis, concave to the left, and hemivertebrae C5, C6 and C7. The posterior arch of C1 was absent and occipitalised [Figure - 1]. Cranial CT depicted a 4x3x3 cm3 hypodense posterior cranial fossa lesion compressing the 4th ventricle and producing an obstructive hydrocephalus. A right sided ventriculo-peritoneal shunt was inserted. He was advised posterior fossa surgery but refused.
Two months later, he was readmitted with mental obtundation, and aspiration pneumonitis. Neurological examination revealed bulbar palsy. A cranial CT displayed decompressed ventricles and a slight enlargement of the posterior fossa cystic lesion. MRI revealed the 5.2 x 4.9 cm well circumscribed lesion, hypointense at T1WI and hyperintense at T2WI weighted images, to have a few curvilinear isointense septae. The lesion was pressing onto the floor of the 4th ventricle, which was displaced anterosuperiorly. The lesion was predominantly in the posterior-inferior vermis with lateral extensions into the cerebellar hemispheres. There was ascending tentorial herniation of the superior vermis [Figure - 2]. He underwent a sub-occipital craniectomy. The tense dura was decompressed by aspirating 20 cc of thick yellow material, which was negative for cells and micro organisms. The opening of the dura revealed a pearly white cyst wall, densely adherent to the same. The cheesy white pultaceous contents with abundant hair were removed in piecemeal. The cyst wall was partially excised under magnification leaving behind the densely adherent parts. The histopathology was consistent with a dermoid cyst. The bulbar palsy resolved by the 8th postoperative day. The child was discharged with no deficit other than the pre-existing head tilt.

   »   Discussion Top

The most common site for an intracranial dermoid is the midline infratentorial segment of the posterior cranial fossa.[4] Posterior fossa dermoids may present with symptoms and signs of a mass lesion or with staphylococcal meningitis. The infection is via the dermal sinus which may be seen as a small punctum or dimple over the occiput. CT and MRI are an invaluable guide to the diagnosis. Computed tomography (CT) demonstrates a markedly hypodense area with values ranging from 0 to -150 HU. However, it may become hyperdense due to saponification of cell detritus, a high concentration of proteins and the presence of haemosiderin and haemoglobin deposits within the cysts.[5] Usually, they do not enhance with contrast, although one enhancing infratentorial dermoid cyst has been reported.[6] On MRI, dermoids shows increased signal intensity on T1WI and a variable signal on T2WI. When the dermoid contains hair, fine curvilinear low signal components may be seen as in the present case.[7] The hypointense T1WI has also been reported. The occipital lump excised at the age of one year may have been a dermal sinus.
Any child with recurrent meningitis (esp. S. aureus) should be assessed for the presence of congenital dermal sinuses. Microneurosurgical removal carries the best prognosis although partial removal alone carries a remarkable freedom from recurrence.[4] During the third to eighth weeks of gestation, failure of formation and rearrangement of the segmental cervical sclerotomes leads to the Klippel-Feil abnormality.[3] During the third to fifth week of embryonic life, closure of the neural tube may trap nests of ectoblasts with cutaneous committment producing dermoids and epidermoid cysts of the CNS. If there is persistence of the cutaneous tract, a communicating dermal sinus may develop due to failure of the cleavage of the neuroectoderm from the epithelial ectoderm along the mid-dorsal aspect of the embryo. The resultant persistent cutaneous defect may extend from the skin into the substance or central canal of the central nervous system, and expand into a cyst containing sebaceous material, hair and epithelial debris. If a posterior fossa mass is seen on MRI or computed tomography in patients with Klippel-Feil syndrome, dermoid cyst should be considered.[3]
Recently, an elegant hypothesis relates to the reduced expression of the Pax genes in sclerotomes during the chondrification of the vertebral centra, producing abnormal segmentation and cervical fusion. This may produce altered tissue tension at the cervico medullary junction during cervical flexure formation (day 28) and rhombencephalic division (day 35) trapping dermal elements which would give rise to posterior fossa dermoid cysts with or without dermal communication.[3] It is concluded that the posterior fossa dermoid cyst and/or congenital dermal sinus should be included in the list of congenital anomalies which must be sought in a patient with the Klippel-Feil syndrome. Early recognition with MRI is important to prevent complications like neural compression, cyst rupture and staphylococcal meningitis.


  »   References Top

1.Rubin G, Scienza R, Rasqualin A et al : Craniocerebral epidermoids and dermoids. A review of 44 cases. Acta Neurochir 1989; 97 : 1-16.   Back to cited text no. 1    
2.Diekmann - Guiroy B, Huang PS : Klippel-feil syndrome in association with a cranio-cervical dermoid cyst presenting as aseptic meningitis in an adult: case report (review). Neurosurgery1989; 25 : 652-655.   Back to cited text no. 2    
3.Kennedy PT, McAuley DJ : Association of posterior fossa dermoid cyst and Klippel-feil syndrome. AJNR 1998; 19(l) : 195-196.   Back to cited text no. 3    
4.Lunardi P, Missori P, Gagliardi FM et al : Dermoid cysts of the posterior cranial fossa in children. Report of 9 cases and review of literature. Surg Neurol 1990; 34 : 39-42.   Back to cited text no. 4    
5.Drolshagen LF, Standefer M : Dense dermoid cyst of the posterior fossa. AJNR 1991; 12 : 317.   Back to cited text no. 5    
6.Yasargil MB, Aberinathey CD, Sarioglu AC : Microneurosurgical treatment of intracranial dermoid and epidermoid tumors. Neurosurgery 1989; 24 : 561-567.   Back to cited text no. 6    
7.Harkus H, Kendall BE : MRI of a dermoid cyst containing hair. Neuroradiology 1993; 35 : 256-257.   Back to cited text no. 7    


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