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CASE REPORT
Year : 2020  |  Volume : 15  |  Issue : 2  |  Page : 414-417

Familial colloid cysts of the third ventricle: Case report and literature review


Department of Surgery, Section of Neurosurgery, School of Medicine, University of Puerto Rico, San Juan, PR

Date of Submission08-Nov-2019
Date of Acceptance18-Feb-2020
Date of Web Publication07-Apr-2020

Correspondence Address:
Orlando De Jesus
Section of Neurosurgery, School of Medicine, University of Puerto, Po Box 365067, San Juan
PR
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ajns.AJNS_332_19

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  Abstract 


Colloid cysts of the third ventricle are rare lesions. To our knowledge, only 23 familial cases of colloid cysts have been reported in the literature. The country of origin of the patients with familial cases had not been previously studied as a group. A 49-year-old female patient from Puerto Rico and her 21-year-old daughter underwent surgical resection for colloid cysts within a period of 5 years. The daughter presented with symptomatic hydrocephalus, while the mother only had mild chronic headaches. The occurrence of a colloid cyst in this family prompted us to perform a literature review and tabulate all the familial cases. This report presents the 24th case of a familial colloid cyst, and the fourth involving a mother and daughter. Australia is the country with the largest amount of reported cases. For smaller countries such as Sweden and Finland, two cases had been reported for each of them. Due to the unlikely probability of familial colloid cyst occurring at random, a genetic component is likely to be involved. The occurrence of several reports from patients from Australia, Finland, Sweden, and Puerto Rico where the population is smaller or more segregated may also suggest a genetic inheritance. Screening of first-degree-related subjects is recommended for families in which two or more members are affected. The presence of a colloid cyst in a twin mandates neuroimaging in the other twin, as there are five familial cases in twins reported in the literature.

Keywords: Colloid cyst, familial, genetic, third ventricle


How to cite this article:
Calderon C, Fernandez-de Thomas RJ, De Jesus O. Familial colloid cysts of the third ventricle: Case report and literature review. Asian J Neurosurg 2020;15:414-7

How to cite this URL:
Calderon C, Fernandez-de Thomas RJ, De Jesus O. Familial colloid cysts of the third ventricle: Case report and literature review. Asian J Neurosurg [serial online] 2020 [cited 2020 Aug 9];15:414-7. Available from: http://www.asianjns.org/text.asp?2020/15/2/414/282003




  Introduction Top


Colloid cysts are benign intracranial lesions located anterosuperior to the third ventricular roof, with only a small part protruding into the foramen of Monro.[1] These lesions comprise about 0.5%–2% of all intracranial tumors and 15%–20% of all intraventricular tumors.[1],[2],[3] The incidence of these lesions is at least 3.2/1 million/year.[2] The first case was reported by Wallmann in 1858.[4] Dandy successfully removed the first colloid cyst in 1921.[5] They can be an incidental finding on imaging or present with headaches or with symptomatic hydrocephalus due to obstruction of cerebrospinal fluid flow. Although this type of lesion is rare, familial cases have been reported.[6],[7],[8],[9],[10],[11],[12],[13],[14],[15],[16],[17],[18],[19],[20],[21],[22],[23],[24],[25],[26],[27],[28] They have been found in twins (monozygotic and dizygotic), brothers and/or sisters, and on a parent and siblings. This report represents, to the best of our knowledge, the 23rd case of familial colloid cysts [Table 1].
Table 1: Familial colloid cysts reported in the literature

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  Case Report Top


A 49-year-old female patient from Puerto Rico complained of chronic headache for several months and her primary physician ordered a brain magnetic resonance imaging (MRI) which showed a colloid cyst measuring 13 mm without ventriculomegaly [Figure 1]. She was consulted with a neurosurgeon, and due to the large size, the surgery was recommended. The cyst was removed through a right transcallosal approach. The patient made an excellent recovery and was discharged 3 days later. Five years prior, her 21-year-old daughter presented to the emergency room with a severe headache over the last week. A brain MRI revealed a colloid cyst measuring 10 mm with obstructive hydrocephalus with an asymmetric large left ventricle [Figure 2]. The cyst was removed successfully through a left transcallosal approach. She was discharged after 3 days and returned to her daily routine the following month. The mother denied that any other family member has had a brain surgery, sudden death, or been diagnosed with a colloid cyst. Congenital defects in the family and consanguinity between father and mother have been denied.
Figure 1: T1-weighted axial magnetic resonance imaging showing a 13 mm anterior third ventricularcolloid cyst

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Figure 2: T1-weighted axial magnetic resonance imaging showing a 10 mm anterior third ventricularcolloid cyst with asymmetric dilatation of the left lateral ventricle

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  Discussion Top


Colloid cysts of the third ventricle are a slow-growing intraventricular lesion. They contain colloid material and are located anterosuperior to the third ventricular roof with only a small part protruding into the foramen of Monro.[1] Although a neuroepithelial origin has become increasingly accepted, other sources have been suggested.[6],[7],[26] Recently, histopathologic and electron microscope studies have suggested an endodermal origin.[21],[26]

Colloid cysts usually occur as sporadic cases. To our knowledge, only 23 familial cases of colloid cysts have been reported.[6],[7],[8],[9],[10],[11],[12],[13],[14],[15],[16],[17],[18],[19],[20],[21],[22],[23],[24],[25],[26],[27],[28] This report presents the 24th case of familial colloid cysts. [Table 1] shows all the reported cases, including ours. This is the fourth report of familial colloid cysts that occurred between a mother and daughter, and the first case of familial colloid cyst reported in Puerto Rico. The probability of this lesion occurring at random within the same family is 1 in 10,000,000,000.[13],[29] The occurrence of colloid cysts in identical twins suggests a possible genetic inheritance in familial cases.[6] Vandertop et al. reported the occurrence of a colloid cyst in three sisters of a family and concluded that a monogeneous Mendelian mode of inheritance may be involved in familial colloid cysts.[8] Some authors have advocated an autosomal dominant pattern of inheritance.[13],[18],[19],[22],[23],[24],[27] Other authors think that an autosomal recessive inheritance is more likely.[11],[15],[16] A multifactorial inheritance has also been proposed.[11],[12] The genetic inheritance for familial colloid cysts is far from clear. Further genetic testing needs to be made to elucidate the pattern of inheritance.

Familial colloid cysts reports have a worldwide distribution [Table 1]. Australian patients have been reported four times.[11],[12],[13],[18] Three families in the USA had also been reported.[7],[9],[28] Saudi Arabia, Sweden, United Kingdom, Iran, and Finland had been reported twice. For the largest countries in the world where the population is over 100 million, only the United States has reported cases. This could be the effect of a better scientific reporting system in the United States compared to other countries. The absence of reports from any other of the largest countries may be due to the diversity of the population but may also be due to a gap in the reporting system. The high incidence of reported cases in Australia and in small populated and segregated countries such as Sweden and Finland also suggests a genetic inheritance. The population is Puerto Rico is smaller than any of the other countries with reported cases. Although in our case and in the majority of the cases, no consanguinity was noted, the occurrence of these familial cases may be due to inbreeding in these small countries.

Chang et al. reported on a young patient with a nasal dermoid sinus cyst and a colloid cyst and proposed that a colloid cyst is a congenital midline defect associated with the anterior neuropore closure.[30] Saarinen et al. identify a family with familial nasal dermoid sinus cysts in which two out of the six affected members had a colloid cyst and suggested an autosomal dominant inheritance with complete penetrance in familial cases.[22] Kurwale et al. reported a patient with a suprasellar dermoid cyst who also had a colloid cyst and proposed that both cysts occur as a congenital midline defect associated with the anterior neuropore closure.[31] Akins et al. recognized that colloid cysts may be associated to several midline developmental malformations which represent a spectrum of neural tube closure defects.[9] Whether these cases may help to elucidate the inheritance for familial colloid cyst remains unclear.


  Conclusion and Recommendations Top


Screening by MRI of first-degree-related subjects is recommended for families in which two or more members are affected. The presence of a colloid cyst in a twin mandates an MRI in the other twins as there are five familial cases in twins reported in the literature. A thorough family history is of great value to understand the type of inheritance by which familial colloid cysts are transmitted. Colloid cysts can be associated with other midline developmental malformations or lesions.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Hernesniemi J, Romani R, Dashti R, Albayrak BS, Savolainen S, Ramsey C 3rd, et al. Microsurgical treatment of third ventricular colloid cysts by interhemispheric far lateral transcallosal approach–experience of 134 patients. Surg Neurol 2008;69:447-53.  Back to cited text no. 1
    
2.
Hernesniemi J, Leivo S. Management outcome in third ventricular colloid cysts in a defined population: A series of 40 patients treated mainly by transcallosal microsurgery. Surg Neurol 1996;45:2-14.  Back to cited text no. 2
    
3.
Little JR, MacCarty CS. Colloid cysts of the third ventricle. J Neurosurg 1974;40:230-5.  Back to cited text no. 3
    
4.
Wallmann H. Eine colloidcyste im dritten hirnventrikel und ein lipom im plexes choroides. Virchows Arch Pathol Anat 1858;11:385-8.  Back to cited text no. 4
    
5.
Dandy WE. Diagnosis localization and removal of tumors of the third ventricle. Bull Johns Hopkins Hosp 1922;33:188-9.  Back to cited text no. 5
    
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Ibrahim AW, Farag H, Naguib M, Ibrahim E. Neuro- epithelial (colloid) cyst of the third ventricle in identical twins. J Neurosurg 1986;65:401-3.  Back to cited text no. 6
    
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Bengtson BP, Hedeman LS, Bauserman SC. Symptomatic neuroepithelial (colloid) cysts of the third ventricle. A unique case report in nontwin brothers. Cancer 1990;66:779-85.  Back to cited text no. 7
    
8.
Vandertop WP, Gosselaar PH, Nesselrooij B. Three sisters with colloid cyst of third ventricle. Lancet 1995;346:643-4.  Back to cited text no. 8
    
9.
Akins PT, Roberts R, Coxe WS, Kaufman BA. Familial colloid cyst of the third ventricle: Case report and review of associated conditions. Neurosurgery 1996;38:392-5.  Back to cited text no. 9
    
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Mathiesen T, Grane P, Lindgren L, Lindquist C. Third ventricle colloid cysts: A consecutive 12-year series. J Neurosurg 1997;86:5-12.  Back to cited text no. 10
    
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van Gelder JM, Dahlstrom JE, Newcombe RL. Colloid cyst of the third ventricle in opposite sex, non-twin siblings. J Clin Neurosci 1998;5:207-9.  Back to cited text no. 11
    
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Stoodley MA, Nguyen TP, Robbins P. Familial fatal and near-fatal third ventricle colloid cysts. Aust N Z J Surg 1999;69:733-6.  Back to cited text no. 12
    
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Sadeghi S, Sharifi G, Aliasgari A. Familial colloid cyst of the third ventricle: A case report and review of the literature. Med J Islam Repub Iran 2003;17:267-9.  Back to cited text no. 17
    
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Partington MW, Bookalil AJ. Familial colloid cysts of the third ventricle. Clin Genet 2004;66:473-5.  Back to cited text no. 18
    
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Joshi SM, Gnanalingham KK, Mohaghegh P, Wilson A, Elsmore A. A case of familial third ventricular colloid cyst. Emerg Med J 2005;22:909-10.  Back to cited text no. 19
    
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Bavil MS, Vahedi P. Familial colloid cyst of the third ventricle in non-twin sisters: Case report, review of the literature, controversies, and screening strategies. Clin Neurol Neurosurg 2007;109:597-601.  Back to cited text no. 20
    
21.
Romani R, Niemelä M, Korja M, Hernesniemi JA. Dizygotic twins with a colloid cyst of the third ventricle: Case report. Neurosurgery 2008;63:E1003.  Back to cited text no. 21
    
22.
Saarinen I, Karppinen A, Saarinen P, Hytönen M, Klockars T. Inheritance of nasal dermoid sinus cyst and evidence for association with third ventricle colloid cyst. Childs Nerv Syst 2012;28:117-20.  Back to cited text no. 22
    
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Salaud C, Hamel O, Buffenoir-Billet K, Nguyen JP. [Familial colloid cyst of the third ventricle: Case report and review of the literature]. Neurochirurgie 2013;59:81-4.  Back to cited text no. 23
    
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Benoiton LA, Correia J, Kamat AS, Wickremesekera A. Familial colloid cyst. J Clin Neurosci 2014;21:533-5.  Back to cited text no. 24
    
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Ronne-Engström E, Popek E. Symptomatic colloid cysts in the third ventricle of monozygotic twins. Ups J Med Sci 2015;120:59-62.  Back to cited text no. 25
    
26.
Niknejad HR, Samii A, Shen SH, Samii M. Huge familial colloid cyst of the third ventricle: An extraordinary presentation. Surg Neurol Int 2015;6:S349-53.  Back to cited text no. 26
    
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Yaish M, Török L, Zanotti B, Alfieri A. Familial colloid cyst of the third ventricle in monozygotic twins. J Neurol Stroke 2017;6:219.  Back to cited text no. 27
    
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Weisbrod LJ, Smith KA, Chamoun RB. Familial colloid of the third ventricle. Interdiscip Neurosurg 2018;14:186-7.  Back to cited text no. 28
    
29.
Vandertop WP. Familial colloid cyst of the third ventricle: Case report and review of associated conditions. Neurosurgery 1996;39:421.  Back to cited text no. 29
    
30.
Cheng ML, Chang SD, Pang D, Adler JR. Intracranial nasal dermoid sinus cyst associated with colloid cyst of the third ventricle. Case report and new concepts. Pediatr Neurosurg 1999;31:201-6.  Back to cited text no. 30
    
31.
Kurwale N, Kumar R, Sharma MC, Sharma BS. Suprasellar dermoid cyst associated with colloid cyst of the third ventricle: Disordered embryogenesis or a mere coincidence? J Neurosci Rural Pract 2013;4:345-7.  Back to cited text no. 31
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