Vakharia, Vejay Niranjan; Toescu, Sebastien; Copp, Andrew J; Thompson, Dominic NP; (2023) A topographical analysis of encephalocele locations: generation of a standardised atlas and cluster analysis. Child's Nervous System , 39 pp. 1911-1920. 10.1007/s00381-023-05883-7.

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Abstract

OBJECTIVE: Encephaloceles are considered to result from defects in the developing skull through which meninges, and potentially brain tissue, herniate. The pathological mechanism underlying this process is incompletely understood. We aimed to describe the location of encephaloceles through the generation of a group atlas to determine whether they occur at random sites or clusters within distinct anatomical regions. METHODS: Patients diagnosed with cranial encephaloceles or meningoceles were identified from a prospectively maintained database between 1984 and 2021. Images were transformed to atlas space using non-linear registration. The bone defect, encephalocele and herniated brain contents were manually segmented allowing for a 3-dimensional heat map of encephalocele locations to be generated. The centroids of the bone defects were clustered utilising a K-mean clustering machine learning algorithm in which the elbow method was used to identify the optimal number of clusters. RESULTS: Of the 124 patients identified, 55 had volumetric imaging in the form of MRI (48/55) or CT (7/55) that could be used for atlas generation. Median encephalocele volume was 14,704 (IQR 3655-86,746) mm3 and the median surface area of the skull defect was 679 (IQR 374-765) mm2. Brain herniation into the encephalocele was found in 45% (25/55) with a median volume of 7433 (IQR 3123-14,237) mm3. Application of the elbow method revealed 3 discrete clusters: (1) anterior skull base (22%; 12/55), (2) parieto-occipital junction (45%; 25/55) and (3) peri-torcular (33%; 18/55). Cluster analysis revealed no correlation between the location of the encephalocele with gender (χ2 (2, n = 91) = 3.86, p = 0.15). Compared to expected population frequencies, encephaloceles were relatively more common in Black, Asian and Other compared to White ethnicities. A falcine sinus was identified in 51% (28/55) of cases. Falcine sinuses were more common (χ2 (2, n = 55) = 6.09, p = 0.05) whilst brain herniation was less common (χ2 (2, n = 55) = .16.24, p < 0.0003) in the parieto-occipital location. CONCLUSION: This analysis revealed three predominant clusters for the location of encephaloceles, with the parieto-occipital junction being the most common. The stereotypic location of encephaloceles into anatomically distinct clusters and the coexistence of distinct venous malformations at certain sites suggests that their location is not random and raises the possibility of distinct pathogenic mechanisms unique to each of these regions.

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