Disease characteristics and patterns of familial colloid cyst of the third ventricle: An international survey of the Colloid Cyst Survivors Group.

BACKGROUND: Colloid cysts of the third ventricle are rare benign tumors, accounting for approximately 1% of all intracranial tumors. Familial colloid cysts are less common, only 25 cases have been previously reported in the literature. We aim to describe demographic and disease-specific characteristics to reduce the knowledge gap with this potentially life-threatening tumor. METHODS: We conducted a retrospective cohort study of 211 colloid cyst patients from the Colloid Cyst Survivors Group who completed a survey that included demographicandclinical data andinquired aboutfamily members diagnosed with a colloid cyst. Datawascollected from October 14th, 2021 to October 27th, 2021. We compared our data with previously published cases from the literature. RESULTS: A total of 211 responses from patients with a previous diagnosis of a colloid cyst completed our survey. 11.8 % were familial colloid cysts, of this group 60.8 % were symptomatic and 39.2 % incidental. We observed significant difference between symptom incidence between reports from the literature and our cohort: headache 75.5 % versus 49 % (p = 0.005); imbalance 13.2 % versus 31.4 % (p = 0.03); nausea 11.3 % versus 29.4 % (p = 0.02), and difficulty walking 1.9 % versus 19.6 % (p = 0.003). Additionally, we found first degree family member as the most frequent relative diagnosed with this disease. CONCLUSION: Our study involved the largestcohortof patients with familial colloid cysts. According to previous literature, siblings are the most prevalent family member affected by this disease, specifically among monozygotic twins. This suggests strong inheritance patterns and even genetic mechanism underlying the development of this disease.

Familial colloid cysts: not a chance occurrence.

PURPOSE: Colloid cysts are rare, benign brain tumors of the third ventricle with an estimated population prevalence of 1 in 5800. Sudden deterioration and death secondary to obstructive hydrocephalus are well-described presentations in patients with a colloid cyst. Although historically conceptualized as driven by sporadic genetic events, a growing body of literature supports the possibility of an inherited predisposition. METHODS: A prospective registry of patients with colloid cysts was maintained between 1996 and 2021. Data pertaining to a family history of colloid cyst was collected retrospectively; self-reporting was validated in each case by medical record or imaging review. Frequency of patients with a documented first-degree family member with a colloid cyst based on self-reporting was calculated. The rate of familial co-occurrence within our series was then compared to a systematic literature review and aggregation of familial case studies, as well as population-based prevalence rates of sporadic colloid cysts. RESULTS: Thirteen cases with affected first-degree relatives were identified in our series. Of the entire cohort, 19/26 were symptomatic from the lesion (73%), 12/26 (46.2%) underwent resection, and 2/26 (7.7%) had sudden death from presumed obstructive hydrocephalus. The majority of transmission patterns were between mother and child (9/13). Compared with the estimated prevalence of colloid cysts, our FCC rate of 13 cases in 383 (3.4%) estimates a greater-than-chance rate of co-occurrence. CONCLUSION: Systematic screening for FCCs may facilitate early recognition and treatment of indolent cysts, thereby preventing the rapid deterioration that can occur with an unrecognized third ventricular tumor. Furthermore, identifying a transmission pattern may yield more insight into the molecular and genetic underpinnings of colloid cysts.

Magnetic resonance characterization of the 'dot sign' in colloid cysts of the third ventricle.

PURPOSE: To determine the incidence of the 'dot sign' in patients with colloid cysts of the third ventricle and to characterise its MRI appearances. MATERIALS AND METHODS: Single institution retrospective analysis between January 2007 and October 2016 of all patients with either an imaging or imaging and histology-confirmed diagnosis of colloid cysts of the 3rd ventricle was undertaken. For all cases, MRI signal intensities of the cyst fluid component were graded by two independent radiologists relative to brain parenchyma. Presence of a dot, and if present, its size and relative position within the cyst were recorded. Signal intensities of the dot were then similarly assessed. RESULTS: 37 cases of colloid cyst were identified. Of these 37.8% (n = 14) demonstrated the dot sign. The majority (11 of 14) were observed inferiorly within the cyst; two cases were anteroinferior, and one other was posterior. All identified intracystic nodules displayed low signal intensity with respect to cyst fluid on T2 weighted sequences, and only two nodules were hypointense to fluid on T1-weighted imaging, with the remainder either iso- or hyperintense. CONCLUSIONS: An intracystic low T2 'dot' is a common MRI feature of colloid cysts of the third ventricle, and to our knowledge not previously systematically described. Presence of such a dot should not only not dissuade from a diagnosis of colloid cyst being made, but should in fact be used to strengthen the imaging diagnosis.

Symptomatic Surgically Treated Non-neoplastic Cysts of the Central Nervous System: A Clinicopathological Study From Pakistan.

OBJECTIVE: To report clinicopathologic features of symptomatic surgically removed non-neoplastic cysts of the central nervous system (CNS). STUDY DESIGN: Case series. PLACE AND DURATION OF STUDY: The Aga Khan University Hospital, Karachi, from 2003 to 2012. METHODOLOGY: All non-neoplastic CNS cysts reported during the study period were retrieved and reviewed. Age, gender, location, histologic type and clinical features were noted. RESULTS: A total of 124 cysts were diagnosed in the study period. These included 44 epidermoid cysts (mean age 30.5 ± 13.8 years), 35 colloid cysts (mean age 31 ±13.2 years), 32 arachnoid cysts (mean age 24.8 ±20.2 years), 6 dermoid cysts, 3 enterogenous cysts and Rathke's cleft cysts each and 1 ependymal cyst. All cyst types mainly presented in young adults in both genders with signs and symptoms of a mass lesion. CONCLUSION: Non-neoplastic cyst mainly presented like a CNS mass lesion in young adults. Epidermoids were the most common type of these cysts in the present series followed by the colloid and the arachnoid cysts.

Endoscopic treatment of intraventricular cystic tumors.

OBJECTIVE: Intraventricular cystic tumors constitute a surgical challenge, because of their deep location and the histologically benign nature of most of them. We aim to present concisely, yet comprehensively, the role of neuroendoscopy in the treatment of intraventricular cystic tumors. METHODS: A literature review searching for applications of endoscopy in the treatment of intraventricular cystic tumors is presented. Our experience is added to the presented data. In controversial issues, a comparison is made with traditional treatment methods. RESULTS: Intraventricular endoscopy has been successfully used in the treatment of the whole range of intraventricular cystic tumors. The most common indication is the treatment of colloid cysts. In the treatment of colloid cysts, a comparison with microsurgical techniques showed that endoscopy is advantageous in regard to operative morbidity and postoperative shunt dependency but is associated with a slightly higher recurrence rate. CONCLUSION: Intraventricular endoscopy has emerged as a viable option in the treatment of intraventricular cystic tumors.

Rate of recurrence following stereotactic aspiration of colloid cysts of the third ventricle.

BACKGROUND: The rate of recurrence following stereotactic aspiration of colloid cysts is not defined in the literature. AIMS: To study the long-term imaging and clinical outcome in patients who had stereotactic aspiration of colloid cysts of the third ventricle. METHODS: Between 1987 and 1994, computerized tomography-guided stereotactic aspiration was attempted in 26 consecutive patients with colloid cysts of the third ventricle. RESULTS: There was no mortality or permanent morbidity. A complete aspiration of the cyst was possible in 17 patients, a partial aspiration of the cyst was achieved in 6 and the aspiration failed in 3 patients. On long-term follow-up, symptomatic recurrence was noted in 5/6 patients after partial aspiration and 4/17 patients after complete aspiration (mean follow-up 84.8 months). Kaplan-Meier analysis revealed that after complete aspiration of the cyst, median time to recurrence on imaging is 42 months (95% CI 23.0-60.9 months) but median time to symptomatic recurrence is much later at 184 months (95% CI 88.2-279.7 months). CONCLUSIONS: Stereotactic aspiration of colloid cysts remains a valid surgical option as complete aspiration leads to a good long-term outcome in several patients. Partial aspiration of the cyst should be followed by excision of the cyst, due to the high rate of symptomatic recurrence. However, periodic follow-up imaging is mandatory even after complete aspiration as delayed recurrences are possible.