Familial colloid cyst of the third ventricle in non-twin sisters: Case report, review of the literature, controversies, and screening strategies

Familial colloid cyst of the third ventricle in non-twin sisters: Case report, review of the literature, controversies, and screening strategies

Clinical Neurology and Neurosurgery 109 (2007) 597–601 Case report Familial colloid cyst of the third ventricle in non-twin sisters: Case report, re...

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Clinical Neurology and Neurosurgery 109 (2007) 597–601

Case report

Familial colloid cyst of the third ventricle in non-twin sisters: Case report, review of the literature, controversies, and screening strategies Moslem Shakeri Bavil 1 , Payman Vahedi ∗ Department of Neurological Surgery, Tabriz University of Medical Sciences, Tabriz, Iran Received 12 January 2007; received in revised form 25 March 2007; accepted 10 April 2007

Abstract Colloid cyst of the third ventricle is a known primary brain tumor. The familial occurrence of this cyst and associated conditions has been rarely discussed in the literature. To our knowledge only 10 affected families have been previously reported in the literature. We report the 11th family with this potentially life-threatening tumor and discuss the associated conditions and, existing controversies and plan screening strategies. © 2007 Elsevier B.V. All rights reserved. Keywords: Familial colloid cyst; Third ventricle; Screening; Genetic

1. Introduction Colloid cyst is a slow growing tumor comprising about 0.5–1% of all intracranial tumors [1] and 10–20% of intraventricular tumors [2]. It is the most common third ventricular mass in adults which presents typically in midadulthood [3]. The cyst was first described by Wallman [4] in 1858 and Dandy depicted these cysts via ventriculography and pneumoencephalography in 1922 [5,6]. The cyst is located mostly at the level of foramen of Monro and the pathogenesis of the cyst is a matter of debate [7]. Although a neuroepithelial origin has become increasingly accepted, Rathke cleft cyst, ectopic respiratory tissue and other endodermal sources have been suggested as the origin of these cysts [8]. Many colloid cysts are asymptomatic and merely discovered coincidentally. In the symptomatic patients, headache is the most common complaint. Other symptoms include disturbed mentation, vomiting, seizure (20%), vertigo, drop ∗

Corresponding author at: Department of Neurological Surgery, Imam Hospital, Tabriz University of Medical Sciences, Daneshgah St, PO Box 5166614756, Tabriz, Iran. Tel.: +98 411 3373208. E-mail addresses: [email protected] (M.S. Bavil), [email protected] (P. Vahedi). 1 Fax: +98 411 3340839. 0303-8467/$ – see front matter © 2007 Elsevier B.V. All rights reserved. doi:10.1016/j.clineuro.2007.04.017

attacks and sudden attacks of leg weakness [7]. The latter may be rarely found in other intracranial tumors [9]. The association of some clinical conditions with colloid cyst have been described, such as craniopharyngioma [10], astrocytoma [11], capillary hemangioma of the choroids plexus [12], xanthogranuloma [13,14], agenesis of the corpus callosum [15,16] and multinodular goiter [17]. The familial occurrence of colloid cyst has been noted in the literature, but it is still a very rare clinical entity with only 10 previous reports in the literature. Genetic propensity has been advocated by most authors, but no definite pattern of inheritance has been documented through chromosomal studies. Despite conjecture spanning three decades, the underlying genetic mechanism remains unknown.

2. Case reports 2.1. Case 1 A 25-year-old lady complained of non-throbbing headache and vertigo over 1 week. Thorough neurological exam revealed bilateral optic disc swelling. Papilloedema without neurological deficit was detected. CT revealed a

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Fig. 1. Axial computed tomographic scan in case 1 reveals hyperdense colloid cyst at the level of foramen of Monro (A). Axial FLAIR (B), coronal T2-weighted (C) and sagittal T1-weighted (D) MRI demonstrate intraventricular location of the cyst. The cyst is of high signal intensity on T1, low on T2 and high on FLAIR images.

hyperdense round mass of the third ventricle with acute hydrocephalus and periventricular edema. MRI confirmed the presence of a round mass with high signal intensity on T1, low on T2 and high on FLAIR images (Fig. 1). Systemic enquiry and examination, along with routine laboratory investigations, were all normal. The cyst was totally resected via a right trans-frontal transcortical approach. (Fig. 2). Histopathological exam revealed a cyst containing colloid and ceel ghosts with fibrous wall lined by inner ciliated columnar epithelium in favor of colloid cyst of the third ventricle. The patient did well after the surgery and was discharged a few days later.

enquiry and examination, along with routine laboratory investigations, were all normal. Brain CT scan revealed hyperdense round mass at the level of foramen of Monro with dilatation of lateral ventricles. MRI revealed a mass which was high signal on T1, low signal on T2, and of high signal intensity on FLAIR images. The cyst was resected successfully with anterior transfronal approach (Fig. 3). The patient was on two anticonvulsants during hospitalization period and was discharged with Carbamazepine 200 mg three times a day. No episode of seizure occurred during hospitalization and 6 months follow up.

2.2. Case 2

3. Discussion

Approximately 9 months following the presentation of case 1, her 28-year-old sister presented to the emergency room with acute onset of headache. Soon after her arrival, she developed generalized tonic clonic seizure lasting for 2 min, which was controlled by intravenous diazepam. Thorough neurological exam revealed bilateral papilledema. Systemic

Colloid cyst of the third ventricle is a known primary brain mass; however the familial occurrence of the disease has been rarely discussed in the literature. To our knowledge only 10 previous reports of familial colloid cysts have been described in the literature to date, including two cases of identical twins (Table 1). The occurrence of colloid cyst

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Fig. 2. (A) Macroscopic appearance of intact colloid cyst of the third ventricle. (Case 2) (B), photomicrograph of the same cyst showing the cyst wall contains colloid and ceel ghosts. (C) colloid cyst: fibrous wall lined by inner ciliated columnar epithelium.

Fig. 3. Presurgical (left) and postsurgical (right) CT scans showing total resection of the cyst and improved hydrocephalus. Table 1 Familial colloid cyst of the third ventricle: current concepts and review of the Literature Year

Symptom(s)

Patients

Sex

Age

Clinical condition

Surgical outcome

1986 [23]

Identical twin brothers

M/M

?/?

Non-twin brothers

M/M

?/62

Cataracts/retinal detachment, lateral rectus palsy –/Parkinson’s disease

Successful/successful

1990 [8]

Recurrent attacks of headache/asymptomatic ?

1995 [18]

?

Three sisters

F/F/F

33/14/?

–/–/–

1996 [24] 1999 [25]

? Acute onset of headache/headache, vomiting and unconsciousness Intermittent headache/asymptomatic

Son/father Brother/sister

M/M M/F

28/68 25/41

–/– –/–

Mother/daughter/daughter F/F/F

41/36/33

–/–/–

Headache/asymptomatic Holocranial headache/headache, galactorrhea Headache/headache Headache, cardiopulmonary arrest Headache, vertigo/headache, seizure

Identical twins Half sisters

M/M F/F

?/? 28/38

–/– Goiter/Goiter, Macroprolactinoma

Father/daughter ?

M/F F/?

?/? 24/?

– –

? ?

Non-twin sisters

F/F

25/28

–/–

Successful/successful

2000 [20]

2002 [26] 2002 [17]

2004 [21] 2005 [27] This case

Passed away in 2 months/successful Successful/passed away before surgery/successful Successful/successful Passed away before surgery/successful

Passed away before surgery/successful/no surgery Successful/no surgery Successful/successful

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in identical twins supports the possible genetic inheritance in familial cases. The possibility of a colloid cyst occurring by chance in a kinship has been calculated as one in 100,000,000,000 [18]. Most reports suggest a genetic propensity for the disease and the simultaneous occurrence of other congenital abnormalities (craniopharyngioma [10], astrocytoma [11], capillary hemangioma of the choroids plexus [12], xanthogranuloma [13,14], agenesis of the corpus callosum [15,16] and multinodular goiter [17]) strengthens this theory, however no confirmatory evidence has been yet provided via chromosomal studies [19]. Some authors suggest an autosomal inheritance for this condition. The family studied here was unwilling for a chromosomal study and refused to sign an agreement. There is no gender preponderance and the highest incidence is in patients from 20 to 40 years of age. Of the 24 patients described as the familial cases 13 patients are female and 11 are male and the majority of patients have been diagnosed in the third to fifth decades of life (Table 1). This is as the same in non-familial cases. Nader Sepahi et al. [20] reported the largest family with these lesions. The entire three affected members- mother and her two daughters- were female and imaging screening was valuable to detect the third symptomatic case. The authors suggest CT scanning and magnetic resonance imaging (MRI) as the screening tools in families with at least two members affected. In their review of patients with colloid cysts, Socin et al. [17], observed two cases of familial colloid cyst among eight cases with this lesion over a 10 year period. The authors suggest that the incidence of familial colloid cyst seems not to be negligible. In this study, family screening by CT scanning found no new case among other members of the family. The cyst is usually found in the anterior roof of the third ventricle, but may be seen elsewhere, e.g. in septum pellucidum. The pathogenesis of the cyst is still unknown; however four theories of pathogenesis have been postulated. These include derivation from choroidal epithelium, from ependymal cells, from paraphysis and from endoderm [7]. The cyst contains viscous material which is surrounded by a fibrous epithelial-lined wall. This dense hybrid substance gives rise to the typical appearance of the cyst on CT scan images; however MRI with the ability to reveal the cyst and the nearby structures remains the optimal diagnostic study [3]. In the symptomatic patients, headache is the most common complaint that occurs as the initial symptom in 75% of patients. It may be constant, intermittent or migrainous. Some patients feel better while lying down or changing head position [7]. Other symptoms include disturbed mentation, vomiting, seizure (20%), vertigo, drop attacks and sudden attacks of leg weakness [7]. The latter may be rarely found in other intracranial tumors [9]. Symptomatic cysts are typically between 1 and 2 cm in diameter [3]. Sudden attacks of leg weakness owing to stretching of corticospinal nerve fibers to the legs following acute hydro-

cephalus have also been described [7]. This clinical picture may be rarely found in other intracranial tumors [9]. Screening is of value for families in which two or more members (of either sex) are affected [20]. CT scan was performed for other members of the family (father, one brother and one sister) which was unable to find any new case. None of the patients had any children at the time of diagnosis. Sudden death is the most dreadful and challenging feature of the disease. The definite cause of this lethal phenomenon is still a matter of debate, but acute blockage of cerebrospinal fluid (CSF) with instant herniation or decompensation in chronic hydrocephalus have been postulated. Another proposed mechanism is disturbance of hypothalamic mediated cardiovascular reflex control [21]. It has been estimated that, at least one-third of symptomatic patients are at risk for precipitate decline or death [22]. Further studies, especially chromosomal studied are key elements to unmask hidden features of this potentially lifethreatening disease.

4. Conclusion Although there are still rare reports on the familial occurrence of colloid cyst of the third ventricle, the issue needs to be discussed with recently diagnosed patients. Screening is valuable in families with two or more members affected. MRI, with its ability to delineate surrounding structures and the privilege of avoiding irradiation hazards, is a better screening tool than CT scan. Once diagnosed, the possibility of concurrent conditions should be considered. To conclude, until the data are far from providing conclusive evidence regarding the genetic propensity of familial colloid cyst of the third ventricle, family screening by neuroimaging should be considered in families with more than one member affected.

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