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.

Transseptal interforniceal endoscopic removal of superiorly recessed colloid cysts.

OBJECTIVE: Transforaminal endoscopic colloid cyst resection is well described. However, some anatomical colloid cyst variants may warrant a modified approach. Rarely, colloid cysts separate the forniceal columns and grow superiorly within the leaflets of the septum pellucidum. Thus, the authors' goal was to characterize the imaging features, clinical presentation, surgical strategy, and outcomes of patients with this superiorly recessed colloid cyst variant. METHODS: A retrospective evaluation of patients who underwent endoscopic resection of colloid cysts from 1999 to 2020 was performed. The patients were dichotomized depending on whether the cyst was located predominately below the forniceal columns or was superiorly recessed (forniceal column separation with variable intraseptal extension). This comparative cohort study focused on clinical presentation, imaging features, operative technique, and patient outcome. RESULTS: In total, 182 patients were identified. Seventeen patients had colloid cysts that were defined as superiorly recessed and underwent transseptal interforniceal removal, and 165 patients underwent a standard transforaminal approach. Patients had similar demographic characteristics. However, transseptal cysts were on average larger (17.8 mm vs 11.4 mm, p < 0.0001), and these patients had a greater frontal-occipital horn ratio (0.45 vs 0.41, p = 0.012). They were also more likely to have undergone a previous resection (p = 0.02). The two cohorts had similar surgical outcomes, with no differences in extent of resection, recurrence, or complications. CONCLUSIONS: Superiorly recessed intraseptal colloid cysts are larger and tend to splay the bodies of the fornix, thus requiring a parasagittal transseptal interforniceal endoscopic approach. This achieves complete removal with comparatively negligible morbidity or rare recurrence (5.9%).

Outcomes of a virtual craniofacial clinic for assessing plagiocephaly during the COVID-19 pandemic.

OBJECTIVE: The aim of this study was to carry out a quantitative analysis of a virtual craniofacial clinic during the COVID-19 pandemic. METHODS: The charts of 90 patients from a single institution were reviewed. Of these patients, 45 visited the virtual clinic during the COVID-19 pandemic. The other 45 patients visited the clinic in the 3 months prior to COVID-19. Demographics including the mean age at the visit, chief complaint, visit diagnosis, appointment duration, helmet usage, accuracy of the diagnosis, need for a CT scan, and the need for a follow-up appointment were assessed. Diagnostic accuracy, the frequency of follow-up appointments, and patient satisfaction (via survey), as well as additional associated factors, were analyzed to determine the efficacy and satisfaction associated with the virtual clinic approach. RESULTS: The mean patient age at time of the visit was 5.6 and 7.3 months (p = 0.244), and the mean time from referral to appointment was 19.2 and 19 days (p = 0.934), in the in-person and virtual cohorts, respectively. There was no significant difference in the variety of chief complaints between the in-person and virtual visits, with 97.8% and 93.3% of patients' parents reporting abnormal head shape, respectively, and the remainder reporting more infrequent complaints (p = 0.435). The visit diagnosis was plagiocephaly in 93.3% of the in-person cohort and 80.0% of the virtual cohort (p = 0.118). The final diagnosis exhibited a similar pattern, with 95.6% of the in-person cohort and 88.9% of the virtual cohort observed as positional plagiocephaly; the remaining diagnoses were more infrequent (p = 0.434). The most common alternative diagnosis in the virtual visit cohort was a metopic ridge (8.4%). In the in-person visit cohort, the most common alternative diagnosis was equally a benign enlargement of the subarachnoid space in infancy, scalp mass, and skull lesion (2.2% each). None of the patients in either cohort were diagnosed with synostosis. Eighty percent of the in-person visits were 15 to 30 minutes in duration, with the remaining 20% being 31 minutes or longer; virtual visits were all 30 minutes or less, with 95.6% being 15 to 30 minutes (p = 0.002). Helmets were prescribed for 2 patients in the in-person cohort and no patients in the virtual cohort (p = 0.494). Alterations in diagnosis were made in 2.2% of in-person visits and 6.7% of virtual visits (p = 0.616). Follow-up was required in 15.6% of the in-person visits and 31.1% of the virtual visits (p = 0.134). CT was only utilized twice, once in the in-person visit cohort and once in the virtual visit cohort. CONCLUSIONS: Virtual clinic encounters resulted in comparable diagnostic accuracy. The trend toward frequent follow-up assessments and changes in the final diagnosis in the virtual clinic cohort has indicated a level of diagnostic uncertainty via the virtual interface, which required in-person assessment for confirmation. This finding did not contribute toward diagnostic inaccuracy with respect to missed synostosis. The study results have indicated that telemedicine can be an effective modality in assessing craniofacial pathology.