TY - JOUR
T1 - Disease characteristics and patterns of familial colloid cyst of the third ventricle
T2 - An international survey of the Colloid Cyst Survivors Group
AU - Otamendi-Lopez, Andrea
AU - Marenco-Hillembrand, Lina C.
AU - De Biase, Gaetano
AU - Snyman, Claire
AU - Quiñones-Hinojosa, Alfredo
N1 - Publisher Copyright:
© 2022 Elsevier Ltd
PY - 2022/12
Y1 - 2022/12
N2 - 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 demographic and clinical data and inquired about family members diagnosed with a colloid cyst. Data was collected 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 largest cohort of 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.
AB - 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 demographic and clinical data and inquired about family members diagnosed with a colloid cyst. Data was collected 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 largest cohort of 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.
KW - Colloid cyst
KW - Familial
KW - Genetics
KW - Third ventricle
KW - Tumor
UR - http://www.scopus.com/inward/record.url?scp=85142402785&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85142402785&partnerID=8YFLogxK
U2 - 10.1016/j.jocn.2022.09.018
DO - 10.1016/j.jocn.2022.09.018
M3 - Article
C2 - 36265365
AN - SCOPUS:85142402785
SN - 0967-5868
VL - 106
SP - 49
EP - 54
JO - Journal of Clinical Neuroscience
JF - Journal of Clinical Neuroscience
ER -