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.

Genetics of Colloid Cyst in Monozygotic Twins: Case Report and Review of Literature.

BACKGROUND: Colloid cysts are rare developmental lesions, accounting for approximately 1% of intracranial tumors. Often, these benign lesions are asymptomatic, but they are associated with significant mortality as a result of acute hydrocephalus. This mortality in patients with vague or no symptoms dictates a need for better understanding of the etiology of colloid cysts to expedite diagnosis and management. We present a case of monozygotic twins with colloid cysts to propose a genetic etiology for colloid cyst. CASE DESCRIPTION: Previously healthy male monozygotic twins presented 4 years apart with headache secondary to hydrocephalus as a result of colloid cysts. Both patients underwent multiple surgeries and were doing well at last follow-up. CONCLUSIONS: The present case adds to a body of literature of familial colloid cysts, suggesting higher concordance in monozygotic compared with dizygotic twins. This may be due to high genetic load, shared intrauterine environment, epigenetic changes, or genetic mutation. This literature review suggests that given high morbidity and mortality of colloid cysts, screening may be beneficial. Even in the absence of a single, definitive genetic etiology, we recommend consideration of genetic screening or, at a minimum, screening with neuroimaging for monozygotic twins in cases where 1 twin is diagnosed with colloid cyst.

Familial colloid cyst.

Colloid cysts of the third ventricle are rare benign tumours that can present as symptomatic hydrocephalus or be an incidental finding on imaging. This report presents familial colloid cysts found in a mother and daughter. Prior examples of familial colloid cysts are also reviewed and suggestions regarding the mode of inheritance and screening strategy are proposed.