Gardner's syndrome

A patient with association of Klippel-Fell syndrome and posterior fossa dermoid cyst is presented. The patient, a 36-year-old man, presented with an acute obstructive hydrocephalus due to the cyst and exhibited the typical triad of the Klippel-Feil abnormality with short neck, low hairline implantation and limited neck motion along with a complex cervical vertebrae fusion. The anatomical and clinical features as well as the pathophysiology of this rare association are discussed after a review of the literature. [Neurol Res 2002; 24: 501-504]

Keywords: Dermoid cyst, Klippel-Feil syndrome; posterior fossa tumor

INTRODUCTION

Dermoid cysts of the central nervous system located within the posterior fossa are a rare entity. Intracranial dermoid cysts represent less than 0.5% of all intracranial tumors and those located in the posterior fossa account for less than a third of them. On the other hand, Klippel-- Feil syndrome is a more frequent finding, although its real prevalence is difficult to assert due to the wide range of its radiological and clinical manifestations. Both diseases have a malformative origin. Dermoid cyst development is related to a failure of the neural tube closure and Klippel-Feil syndrome to an abnormal division of the mesodermal somites. Moreover, both abnormalities occur during the same time period of the embryonal life and involve two anatomic and embryologic related areas. However, the association of posterior fossa dermoid cyst and Klippel-Feil syndrome is exceptional and only six cases have been previously reported1-6. This case report describes a new patient with this rare association and presents also a review of the literature.

CASE REPORT

This 36-year-old man presented with a sudden headache followed by a transitory loss of consciousness associated with dizziness, blurring vision, nausea and vomiting. On examination at admission his Glasgow Coma Scale was 14 points and a mild ataxia and horizontal nistagmus was found. The patient had a short neck with a low hairline implantation and restricted neck motion. The patient was the fifth of six brothers and suffered from a juvenile diabetes. Two weeks before admission started with a mild headache and neck pain. Emergent computed tomographic (CT) scan showed an acute tetraventricular hydrocephalus due to a huge tumor located in the midline of the posterior fossa and placed dorsally to the fourth ventricle. The lesion was well defined mass with a paramedial nodule with calcium and fat densities and without changes after contrast infusion (Figure IA). Magnetic resonance imaging (MRI) revealed similar findings and demonstrated a midline fibroadipous tract coming from the pericranial tissues to the dermoid cyst through the occipital bone (Figure IBC). Cervical X-ray showed a complex fusion from C3 to C6, absence of fusion of the posterior arch of Cl and fused cervical and dorsal ribs (Figure 2). Cervical MRI disclosed no abnormalities in the spinal cord or in the soft tissues.

An external ventricular drainage was inserted just after admission. Cerebrospinal fluid study was normal, including alpha-fetoprotein, embryogenic carcinogenic antigen and human chorionic gonadotropin levels. Surgical management of the tumor was done through a bilateral suboccipital craniotomy. A very rudimentary dermal sinus was discovered in the skin surrounded by a few hairs followed by a fibroadipous tract reaching the duramater through a small midline hole in the occipital bone. A well encapsulated intradural lesion was found filled by a green dense material. A nodule with calcifications and a lot of hairs was found inside the cyst. Both the capsule and its contents were totally removed. Pathological examination confirmed the diagnosis of dermoid cyst and dermoid tract. The post-- operative course of the patient was uneventful and 18 months after surgery he remains free of symptoms.

DISCUSSION

Clinical considerations

The most important clinical and anatomical features of the published cases of patients with Klippel-Feil syndrome harboring a posterior fossa dermoid cyst are shown in Table 1. Most of the patients were young adults and only two cases have been described in children. Almost all patients exhibited the typical triad of the Klippel-Feil syndrome with short neck, low hairline implantation and limitation in the neck motion, and their radiological study disclosed a complex spinal malformation. Some patients showed mirror movements in the upper limbs, a usual sign in the Klippel-Feil syndrome. These findings correspond to the most typical clinical picture of the Klippel-Feil syndrome or type 17. The case described by Kuribayashi et aL4 had only a limited fusion of C2 and C3 vertebrae, but this patient associated with an hypertrophy of the zygomatic arch, that is also a consequence of a somite segmentation failure. The dermoid cysts were located intradurally in the midline of the posterior fossa lying dorsally to the fourth ventricle. Only in the case described by Dickmann and Huang the cyst was placed at the craniocervical junction and in a paramedial location. Clinical manifestations leading to diagnosis and surgical treatment were due to the dermoid cyst, in most of the cases an intracranial hypertension syndrome or focal symptoms due to compression of cerebellum or brain stem. In spite of the finding of a dermal sinus in a half of the patients, only one of them presented with bacterial meningitis. Finally, a patient had an aseptic meningitis due to the spilling of the intracystic material to the subarachnoid space. Most of the patients described have been operated on for their dermoid cysts with a very favorable follow-up.

Embryological considerations

In the Klippel-Feil syndrome there is a failure in the segmentation of some cervical mesodermic somites, namely an inhibition or necrosis of the chrondrogenic centers of the vertebrae. The first somites are developed between the 20th and 30th days of the embryonal life. In the early phase of development thi failure leads to the absence of one or more vertebral bodies. If the failure occurs later on a vertebral fusion is developed leading to a Klippel-Feil abnormality. Sporadic cases of this syndrome have been described as well as familiar cases with both autonomic recessive or dominant patterns. Dermoid and epidermoid tumors are due to the entrapment and dislocation of ectodermal elements within the closing neural tube. This closure begins the 22nd day of embryonal life and the anterior neuropore closes the 28th day.

One important question is whether Klippel-Feil syndrome and posterior fossa dermoid cysts are a casual association or they are truly related by any type of malformative mechanism. Most of the authors consider that a coincidental association between both entities is possible. Whittle and Bessers use Gardner's theory to explain the abnormalities found in their patient. In this case the patient had a Klippel-Feil syndrome and a dermoid cyst in addition to a cervical diastematomyelia with duplication of the spinal cord. However, Kuribayashi et al.4 suggest that the disturbance of the mesoderm might play an important role in causing the dermoid cyst. Castillo and Scatlitt, in their comment to the case reported by Kennedy and McAuley3, introduce an alternative explanation where the first malformative event would be the somite development failure. This would produce the cervical vertebral fusion leading to a shortening of the embryonal cervical spine. At the same time the neural tube closure would run normally unaffected by the mesodermic malformative mechanism. However, after its closure the neural tube suffers a cervical flexure around the 28th day and later on, at the 35th day, the rhomboencaphalon begins to divide into the metencephalon and myelencephalon and the fourth ventricle is formed between them. If there is a shortening of the cervical spine secondary to the Klippel-Feil abnormality those authors speculate that an abnormal bent of this area will occur and this may result in the entrapment of ectodermal elements giving a dermoid cyst. This mechanism may explain the presence of dermoids in the fourth ventricle or posterior to it in patients with a complete Klippel-Feil syndrome.

CONCLUSION

The association of KIippel-Feil syndrome and posterior fossa dermoid cyst is a rare entity. However, due to the possible association of Klippel-Feil syndrome with some neurological signs and symptoms as well as with other neurological malformations, including these rare dermoid cysts, a complete cranial imaging study should be included in the work-up diagnostic process of symptomatic patients.

REFERENCES

1 Dickey W, Hawkins SA, Kirkpatrick DH, McKinstry CS, Gray WJ. Posterior fossa dermoid cysts and the Klippel-Feil syndrome. J Neural Neurosurg Psychiatry 1991; 54: 1016-1017

2 Diekmann-Guiroy B, Huang PS. Klippel-Feil syndrome in association with craniocervical dermoid cyst presenting as aseptic

meningitis in an adult: Case report. Neurosurgery 1989; 25: 652-655

3 Kennedy PT, McAuley DJ. Association of posterior fossa dermoid cyst and Klippel-Feil syndrome. AJNR 1998; 19: 195-196

4 Kurabayashi K, Nakasu S, Matsumara K, Matsuda M, Handa J. Dermoid cyst in the fourth ventricle associated with Klippel-Feil syndrome. No To Shinkei 1993; 45: 747-751 Jpn)

5 Roberts AP. A case of intracranial dermoid cyst associated with the Klippel-Feil deformity and recurrent meningitis. Arch Dis Child 1958; 33:222-225

6 Whittle IR, Besser M. Congenital neural abnormalities presenting with mirror movements in a patient with Klippel-Feil syndrome. J Neurosurg 1983; 59: 891-894

7 Wilkinson M. The Klippel-Feil syndrome. In: Vinken PJ, Bruyn GW, eds. Handbook of Clinical Neurology, Vol 32. Congenital Malformations of the Spine and Spinal Cord, Amsterdam: Elsevier/North Holland, 1978: pp. 111-121

Jose M. Gonzalez-Darder*, Rosana Feliu-Tatay*, Jose V. Pesudo-Martinez* and Jose M. Vera-Romany

*Department of Neurosurgery, tDepartment of Pathology, Hospital General de Castell6n, Castell6n, Spain

Correspondence and reprint requests to: Dr Jose M. Gonzalez-Darder, Department of Neurosurgery, Hospital General de Castellon, 12004-- Castell6n, Spain. [gonzalez-jos@gva.es] Accepted for publication March 2002.

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