Dandy Walker malformation with occipital encephalocele - personal series and updated literature review

Co-existence of Dandy Walker malformation (DWM) and occipital encephalocele (OE) is extremely unique, and only a limited number of cases have been documented in literature. Their rarity poses distinct diagnostic and therapeutic challenges across the prenatal-postnatal continuum.

To describe the correlation of these two diverse congenital disorders, and to perform a systematic review of the existing literature.

Retrospective review of prospectively maintained database identified 5/128 DWM + OE patients (3.9%) managed between 2012 and 2024. Several parameters were noted and appropriate analysis was performed. Systematic literature review following PRISMA guidelines identified 79 cases for pooled comparison.

Mean age was 5.6 ± 2.41 months; male-to-female ratio 4:1. Four were first-order children, requiring NICU admission with all having delayed milestones. Two had significant microcephaly while one had macrocephaly. Giant sized OE was seen in four cases. On follow-up, two cases (40%) subsequently developed age-appropriate milestones. Systematic review confirmed significant statistical correlation between patients who underwent only repair vs patient who were shunted ± repair; the cases that were shunted fared better (p-value0.03).

VP/CP shunt is essential in surgical management leading to better prognosis as compared to repair alone. Giant size of OE/OM and associated anomalies may also dictate long-term outcomes. We affirmed that the pathophysiology resulting in hydrocephalus and OE/OM in DWM to be co-dependent. Our experience adds to this limited pool of data and our analysis of the largest studied number of cases in literature to date provides comprehensive insights into the clinical implications of this association.

Not applicable.